Human Genes Group 6 Flashcards
CEP131
Centrosomal protein of 131 kDa (5-azacytidine-induced protein 1) (Pre-acrosome localization protein 1) Q9UPN4 FUNCTION: Component of centriolar satellites contributing to the building of a complex and dynamic network required to regulate cilia/flagellum formation (, ). In proliferating cells, MIB1-mediated ubiquitination induces its sequestration within centriolar satellites, precluding untimely cilia formation initiation . In contrast, during normal and ultraviolet or heat shock cellular stress-induced ciliogenesis, its non-ubiquitinated form is rapidly displaced from centriolar satellites and recruited to centrosome/basal bodies in a microtubule- and p38 MAPK-dependent manner (, ). Acts also as a negative regulator of BBSome ciliary trafficking . Plays a role in sperm flagellar formation; may be involved in the regulation of intraflagellar transport (IFT) and/or intramanchette (IMT) trafficking, which are important for axoneme extension and/or cargo delivery to the nascent sperm tail (By similarity). Required for optimal cell proliferation and cell cycle progression; may play a role in the regulation of genome stability in non-ciliogenic cells (, ). Involved in centriole duplication (By similarity). Required for CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 .
CCDC32
Coiled-coil domain-containing protein 32 Q9BV29
ARSH
Arylsulfatase H (ASH) (EC 3.6.-) Q5FYA8 SUBCELLULAR LOCATION: Membrane .
CCDC102B
Coiled-coil domain-containing protein 102B Q68D86
ATP5PO
ATP synthase subunit O, mitochondrial (ATP synthase peripheral stalk subunit OSCP) (Oligomycin sensitivity conferral protein) (OSCP) P48047 FUNCTION: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements. SUBCELLULAR LOCATION: Mitochondrion .
CCDC102A
Coiled-coil domain-containing protein 102A Q96A19
ARHGEF1
Rho guanine nucleotide exchange factor 1 (115 kDa guanine nucleotide exchange factor) (p115-RhoGEF) (p115RhoGEF) (Sub1.5) Q92888 FUNCTION: Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits (, ). Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase (, , , ). Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain . This GEF activity is inhibited by binding to activated GNA12 . Mediates angiotensin-2-induced RhoA activation . Note=Translocated to the membrane by activated GNA13 or LPA stimulation.
ATXN3L
Ataxin-3-like protein (EC 3.19.12) (Machado-Joseph disease protein 1-like) Q9H3M9 FUNCTION: Deubiquitinating enzyme that cleaves both ‘Lys-48’-linked and ‘Lys-63’-linked poly-ubiquitin chains (in vitro). SUBCELLULAR LOCATION: Nucleus .
AWAT1
Acyl-CoA wax alcohol acyltransferase 1 (EC 2.1.75) (Diacylglycerol O-acyltransferase 2-like protein 3) (Diacylglycerol acyltransferase 2) (Long-chain-alcohol O-fatty-acyltransferase 1) Q58HT5 FUNCTION: Acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to form wax monoesters . Shows a strong preference for decyl alcohol (C10), with less activity towards C16 and C18 alcohols . Shows a strong preference for saturated acyl-CoAs .
C1orf167
Uncharacterized protein C1orf167 Q5SNV9
CDC45
Cell division control protein 45 homolog (PORC-PI-1) O75419 FUNCTION: Required for initiation of chromosomal DNA replication. SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
SLC4A1
Band 3 anion transport protein (Anion exchange protein 1) (AE 1) (Anion exchanger 1) (Solute carrier family 4 member 1) (CD antigen CD233) P02730 FUNCTION: Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Major integral membrane glycoprotein of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine.
TMEM63C
Calcium permeable stress-gated cation channel 1 (Transmembrane protein 63C) Q9P1W3 FUNCTION: Acts as an osmosensitive calcium-permeable cation channel.
AHNAK2
Protein AHNAK2 Q8IVF2 SUBCELLULAR LOCATION: Nucleus .
CIRBP-AS1
Putative uncharacterized protein CIRBP-AS1 (CIRBP antisense RNA 1) (CIRBP antisense gene protein 1) Q8TBR5
AP1S2
AP-1 complex subunit sigma-2 (Adaptor protein complex AP-1 subunit sigma-1B) (Adaptor-related protein complex 1 subunit sigma-1B) (Clathrin assembly protein complex 1 sigma-1B small chain) (Golgi adaptor HA1/AP1 adaptin sigma-1B subunit) (Sigma 1B subunit of AP-1 clathrin) (Sigma-adaptin 1B) (Sigma1B-adaptin) P56377 FUNCTION: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
AIFM3
Apoptosis-inducing factor 3 (EC 1.-.-) (Apoptosis-inducing factor-like protein) Q96NN9 FUNCTION: Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential. Note=Does not translocate to the nucleus upon induction of apoptosis.
CLDN6
Claudin-6 (Skullin) P56747 FUNCTION: Plays a major role in tight junction-specific obliteration of the intercellular space.
BAMBI
BMP and activin membrane-bound inhibitor homolog (Non-metastatic gene A protein) (Putative transmembrane protein NMA) Q13145 FUNCTION: Negatively regulates TGF-beta signaling. SUBCELLULAR LOCATION: Membrane .
CHP2
Calcineurin B homologous protein 2 (Hepatocellular carcinoma-associated antigen 520) O43745 FUNCTION: Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Binds to and activates SLC9A1/NHE1 in a serum-independent manner, thus increasing pH and protecting cells from serum deprivation-induced death. Also plays a role in the regulation of cell proliferation and tumor growth by increasing the phosphatase activity of PPP3CA in a calcium-dependent manner. Activator of the calcineurin/NFAT signaling pathway. Involved in the cytoplasmic translocation of the transcription factor NFATC3 to the nucleus.
AP2A2
AP-2 complex subunit alpha-2 (100 kDa coated vesicle protein C) (Adaptor protein complex AP-2 subunit alpha-2) (Adaptor-related protein complex 2 subunit alpha-2) (Alpha-adaptin C) (Alpha2-adaptin) (Clathrin assembly protein complex 2 alpha-C large chain) (Huntingtin yeast partner J) (Huntingtin-interacting protein 9) (HIP-9) (Huntingtin-interacting protein J) (Plasma membrane adaptor HA2/AP2 adaptin alpha C subunit) O94973 FUNCTION: Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 . The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity).
BCAS3
Breast carcinoma-amplified sequence 3 (GAOB1) Q9H6U6 FUNCTION: Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin.
CHPT1
Cholinephosphotransferase 1 (hCPT1) (EC 2.8.2) (AAPT1-like protein) (Diacylglycerol cholinephosphotransferase 1) Q8WUD6 FUNCTION: Catalyzes phosphatidylcholine biosynthesis from CDP-choline. It thereby plays a central role in the formation and maintenance of vesicular membranes. SUBCELLULAR LOCATION: Golgi apparatus membrane .
NBEAP1
Putative protein BCL8 (Neurobeachin pseudogene 1) P0C6P0
ARL6IP1
ADP-ribosylation factor-like protein 6-interacting protein 1 (ARL-6-interacting protein 1) (Aip-1) (Apoptotic regulator in the membrane of the endoplasmic reticulum) Q15041 FUNCTION: Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity-dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport (By similarity). Plays a role in the formation and stabilization of endoplasmic reticulum tubules . Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-dependent substrates and downstream markers of apoptosis but not CASP9 itself . May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation .
CHAD
Chondroadherin (Cartilage leucine-rich protein) O15335 FUNCTION: Promotes attachment of chondrocytes, fibroblasts, and osteoblasts. This binding is mediated (at least for chondrocytes and fibroblasts) by the integrin alpha(2)beta(1). May play an important role in the regulation of chondrocyte growth and proliferation (By similarity).
CPSF1
Cleavage and polyadenylation specificity factor subunit 1 (Cleavage and polyadenylation specificity factor 160 kDa subunit) (CPSF 160 kDa subunit) Q10570 FUNCTION: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3’-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. This subunit is involved in the RNA recognition step of the polyadenylation reaction. SUBCELLULAR LOCATION: Nucleus, nucleoplasm.
CPSF7
Cleavage and polyadenylation specificity factor subunit 7 (Cleavage and polyadenylation specificity factor 59 kDa subunit) (CPSF 59 kDa subunit) (Cleavage factor Im complex 59 kDa subunit) (CFIm59) (Pre-mRNA cleavage factor Im 59 kDa subunit) Q8N684 FUNCTION: Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3’-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (, , ). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3’-end, so called cleavage and polyadenylation signals (pA signals) (, ). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3’-end formation (, ). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5’-UGUA-3’ elements localized in the 3’-untranslated region (UTR) for a huge number of pre-mRNAs (, ). CPSF7 activates directly the mRNA 3’-processing machinery . Binds to pA signals in RNA substrates (, ).
FKBP4
Peptidyl-prolyl cis-trans isomerase FKBP4 (PPIase FKBP4) (EC 5.1.8) (51 kDa FK506-binding protein) (FKBP51) (52 kDa FK506-binding protein) (52 kDa FKBP) (FKBP-52) (59 kDa immunophilin) (p59) (FK506-binding protein 4) (FKBP-4) (FKBP59) (HSP-binding immunophilin) (HBI) (Immunophilin FKBP52) (Rotamase) [Cleaved into: Peptidyl-prolyl cis-trans isomerase FKBP4, N-terminally processed] Q02790 FUNCTION: Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. May have a protective role against oxidative stress in mitochondria.
CPT1B
Carnitine O-palmitoyltransferase 1, muscle isoform (CPT1-M) (EC 2.1.21) (Carnitine O-palmitoyltransferase I, muscle isoform) (CPT I) (CPTI-M) (Carnitine palmitoyltransferase 1B) (Carnitine palmitoyltransferase I-like protein) Q92523 SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein.
CHD2
Chromodomain-helicase-DNA-binding protein 2 (CHD-2) (EC 3.4.12) (ATP-dependent helicase CHD2) O14647 FUNCTION: DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity).
CLCN5
H(+)/Cl(-) exchange transporter 5 (Chloride channel protein 5) (ClC-5) (Chloride transporter ClC-5) P51795 FUNCTION: Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. SUBCELLULAR LOCATION: Golgi apparatus membrane .
ALDH16A1
Aldehyde dehydrogenase family 16 member A1 Q8IZ83
CHD5
Chromodomain-helicase-DNA-binding protein 5 (CHD-5) (EC 3.4.12) (ATP-dependent helicase CHD5) Q8TDI0 FUNCTION: Chromatin-remodeling protein that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated ‘Lys-27’ (H3K27me3) and non-methylated ‘Lys-4’ of histone H3. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at ‘Lys-27’ thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Tumor suppressor, it regulates the expression of genes involved in cell proliferation and differentiation. Downstream activated genes may include CDKN2A that positively regulates the p53/TP53 pathway, which in turn, prevents cell proliferation. In spermatogenesis, it probably regulates histone hyperacetylation and the replacement of histones by transition proteins in chromatin, a crucial step in the condensation of spermatid chromatin and the production of functional spermatozoa.
SERPINA1
Alpha-1-antitrypsin (Alpha-1 protease inhibitor) (Alpha-1-antiproteinase) (Serpin A1) [Cleaved into: Short peptide from AAT (SPAAT)] P01009 FUNCTION: Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin.; FUNCTION: [Short peptide from AAT]: reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human leukocyte elastase (HLE). SUBCELLULAR LOCATION: Secreted. Endoplasmic reticulum. Note=The S and Z allele are not secreted effectively and accumulate intracellularly in the endoplasmic reticulum.; SUBCELLULAR LOCATION: [Short peptide from AAT]: Secreted, extracellular space, extracellular matrix.
PPP2R5A
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform (PP2A B subunit isoform B’-alpha) (PP2A B subunit isoform B56-alpha) (PP2A B subunit isoform PR61-alpha) (PR61alpha) (PP2A B subunit isoform R5-alpha) Q15172 FUNCTION: The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. SUBCELLULAR LOCATION: Cytoplasm .
ANKRD33B
Ankyrin repeat domain-containing protein 33B A6NCL7
AAK1
AP2-associated protein kinase 1 (EC 2.11.1) (Adaptor-associated kinase 1) Q2M2I8 FUNCTION: Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis. Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1. Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes. Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes. Binds to and stabilizes the activated form of NOTCH1, increases its localization in endosomes and regulates its transcriptional activity.
ACSF2
Medium-chain acyl-CoA ligase ACSF2, mitochondrial (EC 6.1.2) Q96CM8 FUNCTION: Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA . Has some preference toward medium-chain substrates . Plays a role in adipocyte differentiation .
CRP
C-reactive protein [Cleaved into: C-reactive protein(1-205)] P02741 FUNCTION: Displays several functions associated with host defense: it promotes agglutination, bacterial capsular swelling, phagocytosis and complement fixation through its calcium-dependent binding to phosphorylcholine. Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. SUBCELLULAR LOCATION: Secreted.
AARSD1
Alanyl-tRNA editing protein Aarsd1 (Alanyl-tRNA synthetase domain-containing protein 1) Q9BTE6 FUNCTION: Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala).
POTEKP
Putative beta-actin-like protein 3 (Kappa-actin) (POTE ankyrin domain family member K) Q9BYX7 SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton .
ACVR1
Activin receptor type-1 (EC 2.11.30) (Activin receptor type I) (ACTR-I) (Activin receptor-like kinase 2) (ALK-2) (Serine/threonine-protein kinase receptor R1) (SKR1) (TGF-B superfamily receptor type I) (TSR-I) Q04771 FUNCTION: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
ACVR1B
Activin receptor type-1B (EC 2.11.30) (Activin receptor type IB) (ACTR-IB) (Activin receptor-like kinase 4) (ALK-4) (Serine/threonine-protein kinase receptor R2) (SKR2) P36896 FUNCTION: Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2.
PRMT6
Protein arginine N-methyltransferase 6 (EC 2.1.319) (Heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 6) (Histone-arginine N-methyltransferase PRMT6) Q96LA8 FUNCTION: Arginine methyltransferase that can catalyze the formation of both omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA), with a strong preference for the formation of aDMA (, , , , ). Preferentially methylates arginyl residues present in a glycine and arginine-rich domain and displays preference for monomethylated substrates (, , , ). Specifically mediates the asymmetric dimethylation of histone H3 ‘Arg-2’ to form H3R2me2a (, , ). H3R2me2a represents a specific tag for epigenetic transcriptional repression and is mutually exclusive with methylation on histone H3 ‘Lys-4’ (H3K4me2 and H3K4me3) (, ). Acts as a transcriptional repressor of various genes such as HOXA2, THBS1 and TP53 . Repression of TP53 blocks cellular senescence (By similarity). Also methylates histone H2A and H4 ‘Arg-3’ (H2AR3me and H4R3me, respectively). Acts as a regulator of DNA base excision during DNA repair by mediating the methylation of DNA polymerase beta (POLB), leading to the stimulation of its polymerase activity by enhancing DNA binding and processivity . Methylates HMGA1 (, ). Regulates alternative splicing events. Acts as a transcriptional coactivator of a number of steroid hormone receptors including ESR1, ESR2, PGR and NR3C1. Promotes fasting-induced transcriptional activation of the gluconeogenic program through methylation of the CRTC2 transcription coactivator (By similarity). May play a role in innate immunity against HIV-1 in case of infection by methylating and impairing the function of various HIV-1 proteins such as Tat, Rev and Nucleocapsid protein p7 (NC) . Methylates GPS2, protecting GPS2 from ubiquitination and degradation (By similarity). Methylates SIRT7, inhibiting SIRT7 histone deacetylase activity and promoting mitochondria biogenesis .
ANKRD22
Ankyrin repeat domain-containing protein 22 Q5VYY1
ANO2
Anoctamin-2 (Transmembrane protein 16B) Q9NQ90 FUNCTION: Calcium-activated chloride channel (CaCC) which may play a role in olfactory signal transduction. Odorant molecules bind to odor-sensing receptors (OSRs), leading to an increase in calcium entry that activates CaCC current which amplifies the depolarization of the OSR cells, ANO2 seems to be the underlying chloride channel involved in this process. May mediate light perception amplification in retina.
ABCE1
ATP-binding cassette sub-family E member 1 (2’-5’-oligoadenylate-binding protein) (HuHP68) (RNase L inhibitor) (Ribonuclease 4 inhibitor) (RNS4I) P61221 FUNCTION: Antagonizes the binding of 2-5A (5’-phosphorylated 2’,5’-linked oligoadenylates) by RNase L through direct interaction with RNase L and therefore inhibits its endoribonuclease activity. May play a central role in the regulation of mRNA turnover. Antagonizes the anti-viral effect of the interferon-regulated 2-5A/RNase L pathway. May act as a chaperone for post-translational events during HIV-1 capsid assembly. Note=Localized to clusters of virus formation at the plasma membrane.
ABCB6
ATP-binding cassette sub-family B member 6, mitochondrial (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter) Q9NP58 FUNCTION: Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.
ANTXR1
Anthrax toxin receptor 1 (Tumor endothelial marker 8) Q9H6X2 FUNCTION: Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells. Note=At the membrane of lamellipodia and at the tip of actin-enriched filopodia. Colocalizes with actin at the base of lamellipodia.
FGF8
Fibroblast growth factor 8 (FGF-8) (Androgen-induced growth factor) (AIGF) (Heparin-binding growth factor 8) (HBGF-8) P55075 FUNCTION: Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system (, , ). Plays a role in neurite outgrowth in hippocampal cells . SUBCELLULAR LOCATION: Secreted.
ACAP1
Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 (Centaurin-beta-1) (Cnt-b1) Q15027 FUNCTION: GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration.
FBXO34
F-box only protein 34 Q9NWN3 FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
FGFR4
Fibroblast growth factor receptor 4 (FGFR-4) (EC 2.10.1) (CD antigen CD334) P22455 FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, glucose uptake, vitamin D metabolism and phosphate homeostasis. Required for normal down-regulation of the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, in response to FGF19. Phosphorylates PLCG1 and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes SRC-dependent phosphorylation of the matrix protease MMP14 and its lysosomal degradation. FGFR4 signaling is down-regulated by receptor internalization and degradation; MMP14 promotes internalization and degradation of FGFR4. Mutations that lead to constitutive kinase activation or impair normal FGFR4 inactivation lead to aberrant signaling.
DDIT4
DNA damage-inducible transcript 4 protein (HIF-1 responsive protein RTP801) (Protein regulated in development and DNA damage response 1) (REDD-1) Q9NX09 FUNCTION: Regulates cell growth, proliferation and survival via inhibition of the activity of the mammalian target of rapamycin complex 1 (mTORC1). Inhibition of mTORC1 is mediated by a pathway that involves DDIT4/REDD1, AKT1, the TSC1-TSC2 complex and the GTPase RHEB. Plays an important role in responses to cellular energy levels and cellular stress, including responses to hypoxia and DNA damage. Regulates p53/TP53-mediated apoptosis in response to DNA damage via its effect on mTORC1 activity. Its role in the response to hypoxia depends on the cell type; it mediates mTORC1 inhibition in fibroblasts and thymocytes, but not in hepatocytes (By similarity). Required for mTORC1-mediated defense against viral protein synthesis and virus replication (By similarity). Inhibits neuronal differentiation and neurite outgrowth mediated by NGF via its effect on mTORC1 activity. Required for normal neuron migration during embryonic brain development. Plays a role in neuronal cell death.
DDI2
Protein DDI1 homolog 2 (EC 3.23.-) Q5TDH0 FUNCTION: Aspartic protease that mediates the cleavage of NFE2L1/NRF1 at ‘Leu-104’, thereby promoting release of NFE2L1/NRF1 from the endoplasmic reticulum membrane (, ). Ubiquitination of NFE2L1/NRF1 is a prerequisite for cleavage, suggesting that DDI2 specifically recognizes and binds ubiquitinated NFE2L1/NRF1 . Seems to act as a proteasomal shuttle which links the proteasome and replication fork proteins like RTF2 (Probable). Required, with DDI1, for cellular survival following replication stress. Together or redudantly with DDI1, removes RTF2 from stalled forks to allow cell cycle progression after replication stress and maintains genome integrity .
FGL1
Fibrinogen-like protein 1 (HP-041) (Hepassocin) (HPS) (Hepatocyte-derived fibrinogen-related protein 1) (HFREP-1) (Liver fibrinogen-related protein 1) (LFIRE-1) Q08830 FUNCTION: Immune suppressive molecule that inhibits antigen-specific T-cell activation by acting as a major ligand of LAG3 . Responsible for LAG3 T-cell inhibitory function . Binds LAG3 independently from MHC class II (MHC-II) . Secreted by, and promotes growth of, hepatocytes (, ).
FGFR1OP2
FGFR1 oncogene partner 2 Q9NVK5 FUNCTION: May be involved in wound healing pathway.
GLRA3
Glycine receptor subunit alpha-3 O75311 FUNCTION: Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (, ). Channel characteristics depend on the subunit composition; heteropentameric channels display faster channel closure (By similarity). Plays an important role in the down-regulation of neuronal excitability (By similarity). Contributes to the generation of inhibitory postsynaptic currents (By similarity). Contributes to increased pain perception in response to increased prostaglandin E2 levels (By similarity). Plays a role in cellular responses to ethanol (By similarity).
EXT1
Exostosin-1 (EC 2.1.224) (EC 2.1.225) (Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Multiple exostoses protein 1) (Putative tumor suppressor protein EXT1) Q16394 FUNCTION: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan . Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.
ARHGEF6
Rho guanine nucleotide exchange factor 6 (Alpha-Pix) (COOL-2) (PAK-interacting exchange factor alpha) (Rac/Cdc42 guanine nucleotide exchange factor 6) Q15052 FUNCTION: Acts as a RAC1 guanine nucleotide exchange factor (GEF). SUBCELLULAR LOCATION: Cell projection, lamellipodium .
CCL7
C-C motif chemokine 7 (Monocyte chemoattractant protein 3) (Monocyte chemotactic protein 3) (MCP-3) (NC28) (Small-inducible cytokine A7) P80098 FUNCTION: Chemotactic factor that attracts monocytes and eosinophils, but not neutrophils. Augments monocyte anti-tumor activity. Also induces the release of gelatinase B. This protein can bind heparin. Binds to CCR1, CCR2 and CCR3. SUBCELLULAR LOCATION: Secreted.
ARFGEF2
Brefeldin A-inhibited guanine nucleotide-exchange protein 2 (Brefeldin A-inhibited GEP 2) (ADP-ribosylation factor guanine nucleotide-exchange factor 2) Q9Y6D5 FUNCTION: Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma membrane. Probably is involved in the exit of GABA(A) receptors from the endoplasmic reticulum. Involved in constitutive release of tumor necrosis factor receptor 1 via exosome-like vesicles; the function seems to involve PKA and specifically PRKAR2B. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Note=Translocates from cytoplasm to membranes upon cAMP treatment. Localized in recycling endosomes.
BID
BH3-interacting domain death agonist (p22 BID) (BID) [Cleaved into: BH3-interacting domain death agonist p15 (p15 BID); BH3-interacting domain death agonist p13 (p13 BID); BH3-interacting domain death agonist p11 (p11 BID)] P55957 FUNCTION: The major proteolytic product p15 BID allows the release of cytochrome c (By similarity). Isoform 1, isoform 2 and isoform 4 induce ICE-like proteases and apoptosis. Isoform 3 does not induce apoptosis. Counters the protective effect of Bcl-2.
BLVRA
Biliverdin reductase A (BVR A) (EC 1.1.24) (Biliverdin-IX alpha-reductase) P53004 FUNCTION: Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor. SUBCELLULAR LOCATION: Cytoplasm.
ARMCX2
Armadillo repeat-containing X-linked protein 2 (ARM protein lost in epithelial cancers on chromosome X 2) (Protein ALEX2) Q7L311 FUNCTION: May regulate the dynamics and distribution of mitochondria in neural cells.
ANXA2P2
Putative annexin A2-like protein (Annexin A2 pseudogene 2) (Lipocortin II pseudogene) A6NMY6 FUNCTION: Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response.
CRTAM
Cytotoxic and regulatory T-cell molecule (Class-I MHC-restricted T-cell-associated molecule) (CD antigen CD355) O95727 FUNCTION: Interaction with CADM1 promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM3 in vivo.
ADGRF2
Adhesion G-protein coupled receptor F2 (G-protein coupled receptor 111) (G-protein coupled receptor PGR20) Q8IZF7 FUNCTION: Orphan receptor. SUBCELLULAR LOCATION: Membrane .
CDK5R1
Cyclin-dependent kinase 5 activator 1 (CDK5 activator 1) (Cyclin-dependent kinase 5 regulatory subunit 1) (TPKII regulatory subunit) [Cleaved into: Cyclin-dependent kinase 5 activator 1, p35 (p35); Cyclin-dependent kinase 5 activator 1, p25 (p25) (Tau protein kinase II 23 kDa subunit) (p23)] Q15078 FUNCTION: p35 is a neuron specific activator of CDK5. The complex p35/CDK5 is required for neurite outgrowth and cortical lamination. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. Activator of TPKII. The complex p35/CDK5 participates in the regulation of the circadian clock by modulating the function of CLOCK protein: phosphorylates CLOCK at ‘Thr-451’ and ‘Thr-461’ and regulates the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer in association with altered stability and subcellular distribution. Note=The conversion of p35 to p25 relocalizes the protein from the cell periphery to the cytoplasm, in nuclear and perinuclear regions. In the primary cortical neurons, p25 is primarily concentrated in the cell soma and is largely absent from neurites.
CDH5
Cadherin-5 (7B4 antigen) (Vascular endothelial cadherin) (VE-cadherin) (CD antigen CD144) P33151 FUNCTION: Cadherins are calcium-dependent cell adhesion proteins (By similarity). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types . This cadherin may play a important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions (By similarity). It associates with alpha-catenin forming a link to the cytoskeleton . Acts in concert with KRIT1 and MPP5 to establish and maintain correct endothelial cell polarity and vascular lumen (By similarity). These effects are mediated by recruitment and activation of the Par polarity complex and RAP1B . Required for activation of PRKCZ and for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction .
CDH15
Cadherin-15 (Cadherin-14) (Muscle cadherin) (M-cadherin) P55291 FUNCTION: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
BACE2
Beta-secretase 2 (EC 3.23.45) (Aspartic-like protease 56 kDa) (Aspartyl protease 1) (ASP1) (Asp 1) (Beta-site amyloid precursor protein cleaving enzyme 2) (Beta-site APP cleaving enzyme 2) (Down region aspartic protease) (DRAP) (Memapsin-1) (Membrane-associated aspartic protease 1) (Theta-secretase) Q9Y5Z0 FUNCTION: Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672. Responsible also for the proteolytic processing of CLTRN in pancreatic beta cells . Endoplasmic reticulum. Endosome.
AGO4
Protein argonaute-4 (Argonaute4) (hAgo4) (Argonaute RISC catalytic component 4) (Eukaryotic translation initiation factor 2C 4) (eIF-2C 4) (eIF2C 4) Q9HCK5 FUNCTION: Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for RNA-directed transcription and replication of the human hapatitis delta virus (HDV).
CA6
Carbonic anhydrase 6 (EC 4.1.1) (Carbonate dehydratase VI) (Carbonic anhydrase VI) (CA-VI) (Salivary carbonic anhydrase) (Secreted carbonic anhydrase) P23280 FUNCTION: Reversible hydration of carbon dioxide. Its role in saliva is unknown. SUBCELLULAR LOCATION: Secreted.
ADGRD1
Adhesion G-protein coupled receptor D1 (G-protein coupled receptor 133) (G-protein coupled receptor PGR25) Q6QNK2 FUNCTION: Orphan receptor. Signals via G(s)-alpha family of G-proteins (, ). Has protumorigenic function especially in glioblastoma .
BARX2
Homeobox protein BarH-like 2 Q9UMQ3 FUNCTION: Transcription factor. Binds optimally to the DNA consensus sequence 5’-YYTAATGRTTTTY-3’. May control the expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and peripherical nervous system. May be involved in controlling adhesive processes in keratinizing epithelia (By similarity). SUBCELLULAR LOCATION: Nucleus.
AP1S1
AP-1 complex subunit sigma-1A (Adaptor protein complex AP-1 subunit sigma-1A) (Adaptor-related protein complex 1 subunit sigma-1A) (Clathrin assembly protein complex 1 sigma-1A small chain) (Clathrin coat assembly protein AP19) (Golgi adaptor HA1/AP1 adaptin sigma-1A subunit) (HA1 19 kDa subunit) (Sigma 1a subunit of AP-1 clathrin) (Sigma-adaptin 1A) (Sigma1A-adaptin) P61966 FUNCTION: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
CHST2
Carbohydrate sulfotransferase 2 (EC 2.2.-) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 2) (GST-2) (N-acetylglucosamine 6-O-sulfotransferase 1) (GlcNAc6ST-1) (Gn6ST-1) Q9Y4C5 FUNCTION: Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues within keratan-like structures on N-linked glycans and within mucin-associated glycans that can ultimately serve as SELL ligands. SELL ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation. Participates in biosynthesis of the SELL ligand sialyl 6-sulfo Lewis X and in lymphocyte homing to Peyer patches. Has no activity toward O-linked sugars. Its substrate specificity may be influenced by its subcellular location. Sulfates GlcNAc residues at terminal, non-reducing ends of oligosaccharide chains.
BCO1
Beta,beta-carotene 15,15’-dioxygenase (EC 1.13.11.63) (Beta-carotene dioxygenase 1) (Beta-carotene oxygenase 1) Q9HAY6 FUNCTION: Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism.
KAT14
Cysteine-rich protein 2-binding protein (CSRP2-binding protein) (ADA2A-containing complex subunit 2) (ATAC2) (CRP2-binding partner) (CRP2BP) (Lysine acetyltransferase 14) Q9H8E8 FUNCTION: Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. May function as a scaffold for the ATAC complex to promote ATAC complex stability. Has also weak histone acetyltransferase activity toward histone H4. Required for the normal progression through G1 and G2/M phases of the cell cycle. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly nuclear.
BCKDK
[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial (EC 2.11.4) (Branched-chain alpha-ketoacid dehydrogenase kinase) (BCKD-kinase) (BCKDHKIN) O14874 FUNCTION: Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex.
ANAPC7
Anaphase-promoting complex subunit 7 (APC7) (Cyclosome subunit 7) Q9UJX3 FUNCTION: Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of ‘Lys-11’-linked polyubiquitin chains and, to a lower extent, the formation of ‘Lys-48’- and ‘Lys-63’-linked polyubiquitin chains.
C9orf66
Uncharacterized protein C9orf66 Q5T8R8
ASXL3
Putative Polycomb group protein ASXL3 (Additional sex combs-like protein 3) Q9C0F0 FUNCTION: Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity).
CIAO2A
Cytosolic iron-sulfur assembly component 2A (MIP18 family protein FAM96A) Q9H5X1 FUNCTION: Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins . As a CIA complex component and in collaboration with CIAO1 specifically matures ACO1 and stabilizes IREB2, connecting cytosolic iron-sulfur protein maturation with cellular iron regulation . May play a role in chromosome segregation through establishment of sister chromatid cohesion. May induce apoptosis in collaboration with APAF1 .
ATP10D
Probable phospholipid-transporting ATPase VD (EC 7.2.1) (ATPase class V type 10D) (P4-ATPase flippase complex alpha subunit ATP10D) Q9P241 FUNCTION: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not that of TMEM30B.
ATP11B
Probable phospholipid-transporting ATPase IF (EC 7.2.1) (ATPase IR) (ATPase class VI type 11B) (P4-ATPase flippase complex alpha subunit ATP11B) Q9Y2G3 FUNCTION: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). Involved in regulation of sensitivity to cisplatin; may contribute to secretory vesicle transport of cisplatin from Golgi to plasma membrane.
ATP10B
Probable phospholipid-transporting ATPase VB (EC 7.2.1) (ATPase class V type 10B) (P4-ATPase flippase complex alpha subunit ATP10B) O94823 FUNCTION: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B.
CYP4F22
Cytochrome P450 4F22 (EC 1.14.14.-) Q6NT55 SUBCELLULAR LOCATION: Endoplasmic reticulum membrane .
ATG2A
Autophagy-related protein 2 homolog A Q2TAZ0 FUNCTION: Involved in autophagosome assembly, regulating the size of nascent autophagosomes . Also regulates lipid droplets morphology and distribution within the cell (, ). SUBCELLULAR LOCATION: Preautophagosomal structure membrane; Peripheral membrane protein. Lipid droplet.
CYP4Z1
Cytochrome P450 4Z1 (EC 1.14.14.1) (CYPIVZ1) Q86W10 SUBCELLULAR LOCATION: Endoplasmic reticulum membrane .
C4A
Complement C4-A (Acidic complement C4) (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2) [Cleaved into: Complement C4 beta chain; Complement C4-A alpha chain; C4a anaphylatoxin; C4b-A; C4d-A; Complement C4 gamma chain] P0C0L4 FUNCTION: Non-enzymatic component of C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens.; FUNCTION: Derived from proteolytic degradation of complement C4, C4a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes. SUBCELLULAR LOCATION: Secreted. Cell junction, synapse .
CYP7B1
Cytochrome P450 7B1 (24-hydroxycholesterol 7-alpha-hydroxylase) (EC 1.14.14.26) (25/26-hydroxycholesterol 7-alpha-hydroxylase) (EC 1.14.14.29) (3-hydroxysteroid 7-alpha hydroxylase) (Oxysterol 7-alpha-hydroxylase) O75881 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids (, ). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (, ). Catalyzes the hydroxylation of carbon hydrogen bonds of steroids with a preference for 7-alpha position (, ). Usually metabolizes steroids carrying a hydroxy group at position 3, functioning as a 3-hydroxy steroid 7-alpha hydroxylase . Hydroxylates oxysterols, including 25-hydroxycholesterol and (25R)-cholest-5-ene-3beta,26-diol toward 7-alpha hydroxy derivatives, which may be transported to the liver and converted to bile acids (, ). Via its product 7-alpha,25-dihydroxycholesterol, a ligand for the chemotactic G protein-coupled receptor GPR183/EBI2, regulates B cell migration in germinal centers of lymphoid organs, thus guiding efficient maturation of plasma B cells and overall antigen-specific humoral immune response (By similarity). 7-alpha hydroxylates neurosteroids, including 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone) and pregnenolone, both involved in hippocampus-associated memory and learning . Metabolizes androstanoids toward 6- or 7-alpha hydroxy derivatives .
C12orf54
Uncharacterized protein C12orf54 Q6X4T0
COL5A2
Collagen alpha-2(V) chain P05997 FUNCTION: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (By similarity).
C12orf65
Probable peptide chain release factor C12orf65, mitochondrial Q9H3J6 FUNCTION: May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. May help rescuing stalled mitoribosomes during translation (By similarity).
FBXL20
F-box/LRR-repeat protein 20 (F-box and leucine-rich repeat protein 20) (F-box/LRR-repeat protein 2-like) Q96IG2 FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Role in neural transmission (By similarity).
AQP4
Aquaporin-4 (AQP-4) (Mercurial-insensitive water channel) (MIWC) (WCH4) P55087 FUNCTION: Forms a water-specific channel (, , ). Plays an important role in brain water homeostasis and in glymphatic solute transport. Required for a normal rate of water exchange across the blood brain interface. Required for normal levels of cerebrospinal fluid influx into the brain cortex and parenchyma along paravascular spaces that surround penetrating arteries, and for normal drainage of interstitial fluid along paravenous drainage pathways. Thereby, it is required for normal clearance of solutes from the brain interstitial fluid, including soluble beta-amyloid peptides derived from APP. Plays a redundant role in urinary water homeostasis and urinary concentrating ability (By similarity).
FKBP14
Peptidyl-prolyl cis-trans isomerase FKBP14 (PPIase FKBP14) (EC 5.1.8) (22 kDa FK506-binding protein) (22 kDa FKBP) (FKBP-22) (FK506-binding protein 14) (FKBP-14) (Rotamase) Q9NWM8 FUNCTION: PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens.
CLASP1
CLIP-associating protein 1 (Cytoplasmic linker-associated protein 1) (Multiple asters homolog 1) (Protein Orbit homolog 1) (hOrbit1) Q7Z460 FUNCTION: Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules. Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3-kinase signaling. Also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle. Note=Localizes to microtubule plus ends. Localizes to centrosomes, kinetochores and the mitotic spindle from prometaphase. Subsequently localizes to the spindle midzone from anaphase and to the midbody from telophase. In migrating cells localizes to the plus ends of microtubules within the cell body and to the entire microtubule lattice within the lamella. Localizes to the cell cortex and this requires ERC1 and PHLDB2.
FAM180B
Protein FAM180B Q6P0A1 SUBCELLULAR LOCATION: Secreted .
FKBP15
FK506-binding protein 15 (FKBP-15) (133 kDa FK506-binding protein) (133 kDa FKBP) (FKBP-133) (WASP- and FKBP-like protein) (WAFL) Q5T1M5 FUNCTION: May be involved in the cytoskeletal organization of neuronal growth cones. Seems to be inactive as a PPIase (By similarity). Involved in the transport of early endosomes at the level of transition between microfilament-based and microtubule-based movement.
ATG9B
Autophagy-related protein 9B (APG9-like 2) (Nitric oxide synthase 3-overlapping antisense gene protein) (Protein sONE) Q674R7 FUNCTION: Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle (By similarity). Note=Under amino acid starvation or rapamycin treatment, redistributes from a juxtanuclear clustered pool to a dispersed peripheral cytosolic pool. The starvation-induced redistribution depends on ULK1 and ATG13.
DDX5
Probable ATP-dependent RNA helicase DDX5 (EC 3.4.13) (DEAD box protein 5) (RNA helicase p68) P17844 FUNCTION: Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Transcriptional coactivator for p53/TP53 and involved in p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Transcriptional coactivator for RUNX2 and involved in regulation of osteoblast differentiation. Acts as transcriptional repressor in a promoter-specific manner; the function probably involves association with histone deacetylases, such as HDAC1. As component of a large PER complex is involved in the inhibition of 3’ transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms.
FAM183BP
Protein FAM183BP (Testis highly expressed protein 6) Q6ZVS7 SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body .
CPNE5
Copine-5 (Copine V) Q9HCH3 FUNCTION: Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes .
CPPED1
Serine/threonine-protein phosphatase CPPED1 (EC 3.3.16) (Calcineurin-like phosphoesterase domain-containing protein 1) (Complete S-transactivated protein 1) Q9BRF8 FUNCTION: Protein phosphatase that dephosphorylates AKT family kinase specifically at ‘Ser-473’, blocking cell cycle progression and promoting cell apoptosis. May play an inhibitory role in glucose uptake by adipocytes.
AMER2
APC membrane recruitment protein 2 (Amer2) (Protein FAM123A) Q8N7J2 FUNCTION: Negative regulator of the canonical Wnt signaling pathway involved in neuroectodermal patterning. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Note=Translocates to the cell membrane following binding to PtdIns(4,5)P2.
ATL2
Atlastin-2 (EC 3.5.-) (ADP-ribosylation factor-like protein 6-interacting protein 2) (ARL-6-interacting protein 2) (Aip-2) Q8NHH9 FUNCTION: GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (, , ).
CPXCR1
CPX chromosomal region candidate gene 1 protein (Cancer/testis antigen 77) (CT77) Q8N123
ATN1
Atrophin-1 (Dentatorubral-pallidoluysian atrophy protein) P54259 FUNCTION: Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats.
CPXM2
Inactive carboxypeptidase-like protein X2 Q8N436 FUNCTION: May be involved in cell-cell interactions. SUBCELLULAR LOCATION: Secreted .
CLDN14
Claudin-14 O95500 FUNCTION: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.
FNDC8
Fibronectin type III domain-containing protein 8 Q8TC99
CHFR
E3 ubiquitin-protein ligase CHFR (EC 2.2.27) (Checkpoint with forkhead and RING finger domains protein) (RING finger protein 196) (RING-type E3 ubiquitin transferase CHFR) Q96EP1 FUNCTION: E3 ubiquitin-protein ligase that functions in the antephase checkpoint by actively delaying passage into mitosis in response to microtubule poisons. Acts in early prophase before chromosome condensation, when the centrosome move apart from each other along the periphery of the nucleus. Probably involved in signaling the presence of mitotic stress caused by microtubule poisons by mediating the ‘Lys-48’-linked ubiquitination of target proteins, leading to their degradation by the proteasome. Promotes the ubiquitination and subsequent degradation of AURKA and PLK1. Probably acts as a tumor suppressor, possibly by mediating the polyubiquitination of HDAC1, leading to its degradation. May also promote the formation of ‘Lys-63’-linked polyubiquitin chains and functions with the specific ubiquitin-conjugating UBC13-MMS2 (UBE2N-UBE2V2) heterodimer. Substrates that are polyubiquitinated at ‘Lys-63’ are usually not targeted for degradation, but are rather involved in signaling cellular stress.
ACER1
Alkaline ceramidase 1 (AlkCDase 1) (Alkaline CDase 1) (EC 3.1.-) (EC 3.1.23) (Acylsphingosine deacylase 3) (N-acylsphingosine amidohydrolase 3) Q8TDN7 FUNCTION: Endoplasmic reticulum ceramidase that catalyzes the hydrolysis of ceramides into sphingosine and free fatty acids at alkaline pH (, , ). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation . Exhibits a strong substrate specificity towards the natural stereoisomer of ceramides with D-erythro-sphingosine as a backbone and has a higher activity towards very long-chain unsaturated fatty acids like the C24:1-ceramide (, ). May also hydrolyze dihydroceramides to produce dihydrosphingosine (, ). ACER1 is a skin-specific ceramidase that regulates the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes and more generally plays an important role in skin homeostasis .
ACSL5
Long-chain-fatty-acid–CoA ligase 5 (EC 6.1.3) (Arachidonate–CoA ligase) (EC 6.1.15) (Long-chain acyl-CoA synthetase 5) (LACS 5) Q9ULC5 FUNCTION: Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation (, , ). ACSL5 may activate fatty acids from exogenous sources for the synthesis of triacylglycerol destined for intracellular storage (By similarity). Utilizes a wide range of saturated fatty acids with a preference for C16-C18 unsaturated fatty acids (By similarity). It was suggested that it may also stimulate fatty acid oxidation (By similarity). At the villus tip of the crypt-villus axis of the small intestine may sensitize epithelial cells to apoptosis specifically triggered by the death ligand TRAIL. May have a role in the survival of glioma cells.
ACOT11
Acyl-coenzyme A thioesterase 11 (Acyl-CoA thioesterase 11) (EC 3.2.-) (Acyl-CoA thioester hydrolase 11) (Adipose-associated thioesterase) (Brown fat-inducible thioesterase) (BFIT) (Palmitoyl-coenzyme A thioesterase) (EC 3.2.2) Q8WXI4 FUNCTION: Has an acyl-CoA thioesterase activity with a preference for the long chain fatty acyl-CoA thioesters hexadecanoyl-CoA/palmitoyl-CoA and tetradecanoyl-CoA/myristoyl-CoA which are the main substrates in the mitochondrial beta-oxidation pathway.
ANP32E
Acidic leucine-rich nuclear phosphoprotein 32 family member E (LANP-like protein) (LANP-L) Q9BTT0 FUNCTION: Histone chaperone that specifically mediates the genome-wide removal of histone H2A.Z/H2AZ1 from the nucleosome: removes H2A.Z/H2AZ1 from its normal sites of deposition, especially from enhancer and insulator regions. Not involved in deposition of H2A.Z/H2AZ1 in the nucleosome. May stabilize the evicted H2A.Z/H2AZ1-H2B dimer, thus shifting the equilibrium towards dissociation and the off-chromatin state . Inhibits activity of protein phosphatase 2A (PP2A). Does not inhibit protein phosphatase 1. May play a role in cerebellar development and synaptogenesis.
PPP2R2C
Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform (IMYPNO1) (PP2A subunit B isoform B55-gamma) (PP2A subunit B isoform PR55-gamma) (PP2A subunit B isoform R2-gamma) (PP2A subunit B isoform gamma) Q9Y2T4 FUNCTION: The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.
ACOT4
Peroxisomal succinyl-coenzyme A thioesterase (EC 3.2.3) (Acyl-coenzyme A thioesterase 4) (Acyl-CoA thioesterase 4) (EC 3.2.2) (PTE-2b) (Peroxisomal acyl coenzyme A thioester hydrolase Ib) (Peroxisomal long-chain acyl-CoA thioesterase Ib) (PTE-Ib) Q8N9L9 FUNCTION: Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH . ACOT4 is a peroxisomal succinyl-coenzyme A thioesterase can also hydrolyze glutaryl-CoA and long chain saturated acyl-CoAs .
AARD
Alanine and arginine-rich domain-containing protein Q4LEZ3
GNB5
Guanine nucleotide-binding protein subunit beta-5 (Gbeta5) (Transducin beta chain 5) O14775 FUNCTION: Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors . May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity).
ANGPTL2
Angiopoietin-related protein 2 (Angiopoietin-like protein 2) Q9UKU9 FUNCTION: Induces sprouting in endothelial cells through an autocrine and paracrine action. SUBCELLULAR LOCATION: Secreted.
ANKUB1
Protein ANKUB1 (Ankyrin repeat and ubiquitin domain-containing 1) A6NFN9
ANXA13
Annexin A13 (Annexin XIII) (Annexin-13) (Intestine-specific annexin) (ISA) P27216 FUNCTION: [Isoform A]: Binds to membranes enriched in phosphatidylserine or phosphatidylglycerol in a calcium-dependent manner (, ). Half-maximal membrane binding requires about 60 uM calcium. Does not bind to membranes that lack phospholipids with an acidic headgroup .
ANKRD44
Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B (PP6-ARS-B) (Serine/threonine-protein phosphatase 6 regulatory subunit ARS-B) (Ankyrin repeat domain-containing protein 44) Q8N8A2 FUNCTION: Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates.
ADA
Adenosine deaminase (EC 3.4.4) (Adenosine aminohydrolase) P00813 FUNCTION: Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine (, ). Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4 . Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion . Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ T-cell differentiation and proliferation . Acts as a positive modulator of adenosine receptors ADORA1 and ADORA2A, by enhancing their ligand affinity via conformational change . Stimulates plasminogen activation . Plays a role in male fertility (, ). Plays a protective role in early postimplantation embryonic development (By similarity).
FUT1
Galactoside 2-alpha-L-fucosyltransferase 1 (EC 2.1.344) (Alpha(1,2)FT 1) (Blood group H alpha 2-fucosyltransferase) (Fucosyltransferase 1) (GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1) P19526 FUNCTION: Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Gal-beta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway. SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Membrane-bound form in trans cisternae of Golgi.
FUT2
Galactoside 2-alpha-L-fucosyltransferase 2 (EC 2.1.344) (EC 2.1.69) (Alpha(1,2)FT 2) (Fucosyltransferase 2) (GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2) (SE2) (Secretor blood group alpha-2-fucosyltransferase) (Secretor factor) (Se) Q10981 FUNCTION: Mediates the transfer of fucose to the terminal galactose on glycan chains of cell surface glycoproteins and glycolipids . The resulting epitope plays a role in cell-cell interaction including host-microbe interaction (, ). Mediates interaction with intestinal microbiota influencing its composition (, , ). Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble ABO blood group antigen synthesis pathway . SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Membrane-bound form in trans cisternae of Golgi.
FUT4
Alpha-(1,3)-fucosyltransferase 4 (EC 2.1.-) (ELAM-1 ligand fucosyltransferase) (Fucosyltransferase 4) (Fucosyltransferase IV) (Fuc-TIV) (FucT-IV) (Galactoside 3-L-fucosyltransferase) P22083 FUNCTION: May catalyze alpha-1,3 glycosidic linkages involved in the expression of Lewis X/SSEA-1 and VIM-2 antigens. SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Membrane-bound form in trans cisternae of Golgi.
FBXL12
F-box/LRR-repeat protein 12 (F-box and leucine-rich repeat protein 12) (F-box protein FBL12) Q9NXK8 FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Mediates the polyubiquitination and proteasomal degradation of CAMK1 leading to disruption of cyclin D1/CDK4 complex assembly which results in G1 cell cycle arrest in lung epithelia.
FAM171A1
Protein FAM171A1 (Astroprincin) (APCN) Q5VUB5 FUNCTION: Involved in the regulation of the cytoskeletal dynamics, plays a role in actin stress fiber formation.
FAXDC2
Fatty acid hydroxylase domain-containing protein 2 Q96IV6 FUNCTION: Promotes megakaryocyte differentiation by enhancing ERK phosphorylation and up-regulating RUNX1 expression.
FOXD4L5
Forkhead box protein D4-like 5 (FOXD4-like 5) Q5VV16 SUBCELLULAR LOCATION: Nucleus .
FAM229B
Protein FAM229B Q4G0N7
FNBP1
Formin-binding protein 1 (Formin-binding protein 17) (hFBP17) Q96RU3 FUNCTION: May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. May be required for the lysosomal retention of FASLG/FASL. SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Lysosome. Cytoplasmic vesicle. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Enriched in cortical regions coincident with F-actin. Also localizes to endocytic vesicles and lysosomes.
FAM236B
Protein FAM236B A0A1B0GV22
FNBP4
Formin-binding protein 4 (Formin-binding protein 30) Q8N3X1
FAM122C
Protein FAM122C Q6P4D5
FAM86C2P
Putative protein FAM86C2P (EC 2.1.-) A6NEL3
FNTA
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha (EC 2.1.58) (EC 2.1.59) (CAAX farnesyltransferase subunit alpha) (FTase-alpha) (Ras proteins prenyltransferase subunit alpha) (Type I protein geranyl-geranyltransferase subunit alpha) (GGTase-I-alpha) P49354 FUNCTION: Essential subunit of both the farnesyltransferase and the geranylgeranyltransferase complex. Contributes to the transfer of a farnesyl or geranylgeranyl moiety from farnesyl or geranylgeranyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. May positively regulate neuromuscular junction development downstream of MUSK via its function in RAC1 prenylation and activation.
FAM90A8P
Putative protein FAM90A8P A6NJQ4
GYG1
Glycogenin-1 (GN-1) (GN1) (EC 2.1.186) P46976 FUNCTION: Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.
FAM72B
Protein FAM72B Q86X60
FAM47B
Protein FAM47B Q8NA70
GMFG
Glia maturation factor gamma (GMF-gamma) O60234
GMPR
GMP reductase 1 (GMPR 1) (EC 1.1.7) (Guanosine 5’-monophosphate oxidoreductase 1) (Guanosine monophosphate reductase 1) P36959 FUNCTION: Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides.
CEP112
Centrosomal protein of 112 kDa (Cep112) (Coiled-coil domain-containing protein 46) Q8N8E3 SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome .
BNIP5
Protein BNIP5 P0C671
CPA3
Mast cell carboxypeptidase A (MC-CPA) (EC 3.17.1) (Carboxypeptidase A3) P15088 SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle. Note=Secretory granules.
BRDT
Bromodomain testis-specific protein (Cancer/testis antigen 9) (CT9) (RING3-like protein) Q58F21 FUNCTION: Testis-specific chromatin protein that specifically binds histone H4 acetylated at ‘Lys-5’ and ‘Lys-8’ (H4K5ac and H4K8ac, respectively) and plays a key role in spermatogenesis (, ). Required in late pachytene spermatocytes: plays a role in meiotic and post-meiotic cells by binding to acetylated histones at the promoter of specific meiotic and post-meiotic genes, facilitating their activation at the appropriate time . In the post-meiotic phase of spermatogenesis, binds to hyperacetylated histones and participates in their general removal from DNA . Also recognizes and binds a subset of butyrylated histones: able to bind histone H4 butyrylated at ‘Lys-8’ (H4K8ac), while it is not able to bind H4 butyrylated at ‘Lys-5’ (H4K5ac) (By similarity). Also acts as a component of the splicing machinery in pachytene spermatocytes and round spermatids and participates in 3’-UTR truncation of specific mRNAs in post-meiotic spermatids (By similarity). Required for chromocenter organization, a structure comprised of peri-centromeric heterochromatin.
CDC14C
Dual specificity protein phosphatase CDC14C (EC 3.3.16) (EC 3.3.48) (CDC14 cell division cycle 14 homolog C) A4D256 FUNCTION: Dual-specificity phosphatase. Preferentially dephosphorylates proteins modified by proline-directed kinases (By similarity).
LINC00518
Putative uncharacterized protein encoded by LINC00518 Q8N0U6
ALKBH4
Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4 (Alkylated DNA repair protein alkB homolog 4) (DNA N6-methyl adenine demethylase ALKBH4) (EC 1.14.11.51) (Lysine-specific demethylase ALKBH4) (EC 1.14.11.-) Q9NXW9 FUNCTION: Dioxygenase that mediates demethylation of actin monomethylated at ‘Lys-84’ (K84me1), thereby acting as a regulator of actomyosin-processes . Demethylation of actin K84me1 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration . In addition to proteins, also demethylates DNA: specifically demethylates DNA methylated on the 6th position of adenine (N(6)-methyladenosine) DNA, thereby regulating Polycomb silencing (By similarity).
CFAP70
Cilia- and flagella-associated protein 70 (Tetratricopeptide repeat protein 18) (TPR repeat protein 18) Q5T0N1 SUBCELLULAR LOCATION: Cell projection, cilium .
CFAP61
Cilia- and flagella-associated protein 61 Q8NHU2 FUNCTION: May regulate cilium motility through its role in the assembly of the axonemal radial spokes.
C2CD4D
C2 calcium-dependent domain-containing protein 4D B7Z1M9
CCL28
C-C motif chemokine 28 (Mucosae-associated epithelial chemokine) (MEC) (Protein CCK1) (Small-inducible cytokine A28) Q9NRJ3 FUNCTION: Chemotactic activity for resting CD4, CD8 T-cells and eosinophils. Binds to CCR3 and CCR10 and induces calcium mobilization in a dose-dependent manner. SUBCELLULAR LOCATION: Secreted.
CACNG2
Voltage-dependent calcium channel gamma-2 subunit (Neuronal voltage-gated calcium channel gamma-2 subunit) (Transmembrane AMPAR regulatory protein gamma-2) (TARP gamma-2) Q9Y698 FUNCTION: Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.
CCL13
C-C motif chemokine 13 (CK-beta-10) (Monocyte chemoattractant protein 4) (Monocyte chemotactic protein 4) (MCP-4) (NCC-1) (Small-inducible cytokine A13) [Cleaved into: C-C motif chemokine 13, long chain; C-C motif chemokine 13, medium chain; C-C motif chemokine 13, short chain] Q99616 FUNCTION: Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. Signals through CCR2B and CCR3 receptors. Plays a role in the accumulation of leukocytes at both sides of allergic and non-allergic inflammation. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. May play a role in the monocyte attraction in tissues chronically exposed to exogenous pathogens. SUBCELLULAR LOCATION: Secreted.
ASF1A
Histone chaperone ASF1A (Anti-silencing function protein 1 homolog A) (hAsf1) (hAsf1a) (CCG1-interacting factor A) (CIA) (hCIA) Q9Y294 FUNCTION: Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly and with HIRA to promote replication-independent chromatin assembly. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit.
ADAMTS13
A disintegrin and metalloproteinase with thrombospondin motifs 13 (ADAM-TS 13) (ADAM-TS13) (ADAMTS-13) (EC 3.24.87) (von Willebrand factor-cleaving protease) (vWF-CP) (vWF-cleaving protease) Q76LX8 FUNCTION: Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation. Note=Secretion enhanced by O-fucosylation of TSP type-1 repeats.
