Human Genes Group 5 Flashcards
ATP1A4
Sodium/potassium-transporting ATPase subunit alpha-4 (Na(+)/K(+) ATPase alpha-4 subunit) (EC 7.2.13) (Sodium pump subunit alpha-4) Q13733 FUNCTION: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Plays a role in sperm motility. SUBCELLULAR LOCATION: Cell membrane . Note=In mature sperm, located in the principle piece of the sperm flagellum.
GALNT10
Polypeptide N-acetylgalactosaminyltransferase 10 (EC 2.1.41) (Polypeptide GalNAc transferase 10) (GalNAc-T10) (pp-GaNTase 10) (Protein-UDP acetylgalactosaminyltransferase 10) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10) Q86SR1 FUNCTION: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward Muc5Ac and EA2 peptide substrates. SUBCELLULAR LOCATION: Golgi apparatus membrane .
APH1B
Gamma-secretase subunit APH-1B (APH-1b) (Aph-1beta) (Presenilin-stabilization factor-like) Q8WW43 FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A.
CSTF3
Cleavage stimulation factor subunit 3 (CF-1 77 kDa subunit) (Cleavage stimulation factor 77 kDa subunit) (CSTF 77 kDa subunit) (CstF-77) Q12996 FUNCTION: One of the multiple factors required for polyadenylation and 3’-end cleavage of mammalian pre-mRNAs. SUBCELLULAR LOCATION: Nucleus.
CLSTN1
Calsyntenin-1 (Alcadein-alpha) (Alc-alpha) (Alzheimer-related cadherin-like protein) (Non-classical cadherin XB31alpha) [Cleaved into: Soluble Alc-alpha (SAlc-alpha); CTF1-alpha (C-terminal fragment 1-alpha)] O94985 FUNCTION: Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1-binding. May modulate calcium-mediated postsynaptic signals (By similarity).
LINC01551
Uncharacterized protein encoded by LINC01551 Q86U37
CLSTN3
Calsyntenin-3 (Alcadein-beta) (Alc-beta) Q9BQT9 FUNCTION: May modulate calcium-mediated postsynaptic signals. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation.
FLT3
Receptor-type tyrosine-protein kinase FLT3 (EC 2.10.1) (FL cytokine receptor) (Fetal liver kinase-2) (FLK-2) (Fms-like tyrosine kinase 3) (FLT-3) (Stem cell tyrosine kinase 1) (STK-1) (CD antigen CD135) P36888 FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. Promotes phosphorylation of SHC1 and AKT1, and activation of the downstream effector MTOR. Promotes activation of RAS signaling and phosphorylation of downstream kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation of FES, FER, PTPN6/SHP, PTPN11/SHP-2, PLCG1, and STAT5A and/or STAT5B. Activation of wild-type FLT3 causes only marginal activation of STAT5A or STAT5B. Mutations that cause constitutive kinase activity promote cell proliferation and resistance to apoptosis via the activation of multiple signaling pathways. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Endoplasmic reticulum lumen. Note=Constitutively activated mutant forms with internal tandem duplications are less efficiently transported to the cell surface and a significant proportion is retained in an immature form in the endoplasmic reticulum lumen. The activated kinase is rapidly targeted for degradation.
CIDEA
Cell death activator CIDE-A (Cell death-inducing DFFA-like effector A) O60543 FUNCTION: Acts as a CEBPB coactivator in mammary epithelial cells to control the expression of a subset of CEBPB downstream target genes, including ID2, IGF1, PRLR, SOCS1, SOCS3, XDH, but not casein. By interacting with CEBPB, strengthens the association of CEBPB with the XDH promoter, increases histone acetylation and dissociates HDAC1 from the promoter (By similarity). Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid transfer from the smaller to larger lipid droplets. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair and occurs at a lower rate than that promoted by CIDEC. When overexpressed, induces apoptosis. The physiological significance of its role in apoptosis is unclear.
C14orf132
Uncharacterized protein C14orf132 Q9NPU4 SUBCELLULAR LOCATION: Membrane .
CUSTOS
Protein CUSTOS Q96C57 FUNCTION: Plays a role in the regulation of Wnt signaling pathway during early development.
C14orf177
Putative uncharacterized protein C14orf177 Q52M58
FAM110C
Protein FAM110C Q1W6H9 FUNCTION: May play a role in microtubule organization. May play a role in cell spreading and cell migration of epithelial cells; the function may involve the AKT1 signaling pathway.
CNP
2’,3’-cyclic-nucleotide 3’-phosphodiesterase (CNP) (CNPase) (EC 3.4.37) P09543 FUNCTION: May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in central nervous system myelin. SUBCELLULAR LOCATION: Membrane; Lipid-anchor. Melanosome. Note=Firmly bound to membrane structures of brain white matter. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
CSNK1G2-AS1
Uncharacterized protein CSNK1G2-AS1 (CSNK1G2 antisense RNA 1) (CSNK1G2 antisense gene protein 1) Q8NCQ2
GALNT14
Polypeptide N-acetylgalactosaminyltransferase 14 (EC 2.1.41) (Polypeptide GalNAc transferase 14) (GalNAc-T14) (pp-GaNTase 14) (Protein-UDP acetylgalactosaminyltransferase 14) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14) Q96FL9 FUNCTION: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney. SUBCELLULAR LOCATION: Golgi apparatus membrane .
APLNR
Apelin receptor (Angiotensin receptor-like 1) (G-protein coupled receptor APJ) (G-protein coupled receptor HG11) P35414 FUNCTION: Receptor for apelin receptor early endogenous ligand (APELA) and apelin (APLN) hormones coupled to G proteins that inhibit adenylate cyclase activity (, , ). Plays a key role in early development such as gastrulation, blood vessels formation and heart morphogenesis by acting as a receptor for APELA hormone (By similarity). May promote angioblast migration toward the embryonic midline, i. the position of the future vessel formation, during vasculogenesis (By similarity). Promotes sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel development (By similarity). Plays also a role in various processes in adults such as regulation of blood vessel formation, blood pressure, heart contractility and heart failure (, ).
CILP
Cartilage intermediate layer protein 1 (CILP-1) (Cartilage intermediate-layer protein) [Cleaved into: Cartilage intermediate layer protein 1 C1; Cartilage intermediate layer protein 1 C2] O75339 FUNCTION: Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage.
ATP2A1
Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1) (SR Ca(2+)-ATPase 1) (EC 7.2.10) (Calcium pump 1) (Calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform) (Endoplasmic reticulum class 1/2 Ca(2+) ATPase) O14983 FUNCTION: Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (By similarity). Contributes to calcium sequestration involved in muscular excitation/contraction .
C20orf27
UPF0687 protein C20orf27 Q9GZN8
APOLD1
Apolipoprotein L domain-containing protein 1 (Vascular early response gene protein) Q96LR9 FUNCTION: May be involved in angiogenesis. May play a role in activity-dependent changes of brain vasculature. May affect blood-brain permeability.
GALNT18
Polypeptide N-acetylgalactosaminyltransferase 18 (EC 2.1.41) (Polypeptide GalNAc transferase 18) (GalNAc-T18) (Polypeptide GalNAc transferase-like protein 4) (GalNAc-T-like protein 4) (pp-GaNTase-like protein 4) (Polypeptide N-acetylgalactosaminyltransferase-like protein 4) (Protein-UDP acetylgalactosaminyltransferase-like protein 4) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 4) Q6P9A2 FUNCTION: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.
CTNNBIP1
Beta-catenin-interacting protein 1 (Inhibitor of beta-catenin and Tcf-4) Q9NSA3 FUNCTION: Prevents the interaction between CTNNB1 and TCF family members, and acts as negative regulator of the Wnt signaling pathway.
APLP2
Amyloid-like protein 2 (APLP-2) (APPH) (Amyloid protein homolog) (CDEI box-binding protein) (CDEBP) Q06481 FUNCTION: May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA 5’-GTCACATG-3’(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in fibroblasts (By similarity).
ATP2A3
Sarcoplasmic/endoplasmic reticulum calcium ATPase 3 (SERCA3) (SR Ca(2+)-ATPase 3) (EC 7.2.10) (Calcium pump 3) Q93084 FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction.
PDE6H
Retinal cone rhodopsin-sensitive cGMP 3’,5’-cyclic phosphodiesterase subunit gamma (GMP-PDE gamma) (EC 3.4.35) Q13956 FUNCTION: Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.
BECN2
Beclin-2 (Beclin-1 autophagy-related pseudogene 1) (Beclin-1-like protein 1) A8MW95 FUNCTION: Involved in 2 distinct lysosomal degradation pathways: acts as a regulator of autophagy and as a regulator of G-protein coupled receptors turnover. Regulates degradation in lysosomes of a variety of G-protein coupled receptors via its interaction with GPRASP1/GASP1.
C20orf173
Uncharacterized protein C20orf173 Q96LM9
VENTXP1
Putative tumor antigen NA88-A (Cancer/testis antigen 18) (CT18) P0C5K6
NCAPH
Condensin complex subunit 2 (Barren homolog protein 1) (Chromosome-associated protein H) (hCAP-H) (Non-SMC condensin I complex subunit H) (XCAP-H homolog) Q15003 FUNCTION: Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases . Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size . Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensin’s association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.
C20orf202
Uncharacterized protein C20orf202 A1L168
ATP2B3
Plasma membrane calcium-transporting ATPase 3 (PMCA3) (EC 7.2.10) (Plasma membrane calcium ATPase isoform 3) (Plasma membrane calcium pump isoform 3) Q16720 FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
ATP2C1
Calcium-transporting ATPase type 2C member 1 (ATPase 2C1) (EC 7.2.10) (ATP-dependent Ca(2+) pump PMR1) P98194 FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. SUBCELLULAR LOCATION: Golgi apparatus membrane .
NCAPG2
Condensin-2 complex subunit G2 (Chromosome-associated protein G2) (CAP-G2) (hCAP-G2) (Leucine zipper protein 5) (Non-SMC condensin II complex subunit G2) Q86XI2 FUNCTION: Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis.
ARGFX
Arginine-fifty homeobox A6NJG6 FUNCTION: Putative transcription factor.
CNDP1
Beta-Ala-His dipeptidase (EC 3.13.20) (CNDP dipeptidase 1) (Carnosine dipeptidase 1) (Glutamate carboxypeptidase-like protein 2) (Serum carnosinase) Q96KN2 SUBCELLULAR LOCATION: Secreted.
PHYKPL
5-phosphohydroxy-L-lysine phospho-lyase (EC 4.3.134) (Alanine–glyoxylate aminotransferase 2-like 2) Q8IUZ5 FUNCTION: Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde.
CT47A1; CT47A2; CT47A3; CT47A4; CT47A5; CT47A6; CT47A7; CT47A8; CT47A9; CT47A10; CT47A11; CT47A12
Cancer/testis antigen 47A (Cancer/testis antigen 47) (CT47) Q5JQC4
FGG
Fibrinogen gamma chain P02679 FUNCTION: Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerizes to form an insoluble fibrin matrix. Has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the antibacterial immune response via both innate and T-cell mediated pathways.
CNGA1
cGMP-gated cation channel alpha-1 (Cyclic nucleotide-gated cation channel 1) (Cyclic nucleotide-gated channel alpha-1) (CNG channel alpha-1) (CNG-1) (CNG1) (Cyclic nucleotide-gated channel, photoreceptor) (Rod photoreceptor cGMP-gated channel subunit alpha) P29973 FUNCTION: Subunit of the rod cyclic GMP-gated cation channel, which is involved in the final stage of the phototransduction pathway. When light hits rod photoreceptors, cGMP concentrations decrease causing rapid closure of CNGA1/CNGB1 channels and, therefore, hyperpolarization of the membrane potential.
ATXN7L2
Ataxin-7-like protein 2 Q5T6C5
FAM124B
Protein FAM124B Q9H5Z6 SUBCELLULAR LOCATION: Nucleus .
ATXN7L3
Ataxin-7-like protein 3 (SAGA-associated factor 11 homolog) Q14CW9 FUNCTION: Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B (, ). The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and ENY2 into the SAGA complex . Regulates H2B monoubiquitination (H2Bub1) levels. Affects subcellular distribution of ENY2, USP22 and ATXN7L3B .
APOA2
Apolipoprotein A-II (Apo-AII) (ApoA-II) (Apolipoprotein A2) [Cleaved into: Proapolipoprotein A-II (ProapoA-II); Truncated apolipoprotein A-II (Apolipoprotein A-II(1-76))] P02652 FUNCTION: May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism. SUBCELLULAR LOCATION: Secreted .
ATP8A1
Phospholipid-transporting ATPase IA (EC 7.2.1) (ATPase class I type 8A member 1) (Chromaffin granule ATPase II) (P4-ATPase flippase complex alpha subunit ATP8A1) Q9Y2Q0 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. In vitro, its ATPase activity is selectively and stereospecifically stimulated by phosphatidylserine (PS). The flippase complex ATP8A1:TMEM30A seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Acts as aminophospholipid translocase at the plasma membrane in neuronal cells. SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane .
BET1L
BET1-like protein (Golgi SNARE with a size of 15 kDa) (GOS-15) (GS15) (Vesicle transport protein GOS15) Q9NYM9 FUNCTION: Vesicle SNARE required for targeting and fusion of retrograde transport vesicles with the Golgi complex. Required for the integrity of the Golgi complex (By similarity).
CINP
Cyclin-dependent kinase 2-interacting protein (CDK2-interacting protein) Q9BW66 FUNCTION: Interacts with the components of the replication complex and 2 kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication. Regulates ATR-mediated checkpoint signaling. Note=Binds to nuclear under G1 conditions, and dissociates from chromatin with the start of DNA replication.
ATP8B3
Phospholipid-transporting ATPase IK (EC 7.2.1) (ATPase class I type 8B member 3) O60423 FUNCTION: P4-ATPase flippase 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. May be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida.
ATP8B2
Phospholipid-transporting ATPase ID (EC 7.2.1) (ATPase class I type 8B member 2) (P4-ATPase flippase complex alpha subunit ATP8B2) P98198 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).
TRIP10
Cdc42-interacting protein 4 (Protein Felic) (Salt tolerant protein) (hSTP) (Thyroid receptor-interacting protein 10) (TR-interacting protein 10) (TRIP-10) Q15642 FUNCTION: Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by recruiting WASL/N-WASP which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Required for the formation of podosomes, actin-rich adhesion structures specific to monocyte-derived cells. May be required for the lysosomal retention of FASLG/FASL.; SUBCELLULAR LOCATION: [Isoform 5]: Cytoplasm, perinuclear region.
FAM133B
Protein FAM133B Q5BKY9
FAM135A
Protein FAM135A Q9P2D6
CNN2
Calponin-2 (Calponin H2, smooth muscle) (Neutral calponin) Q99439 FUNCTION: Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity.
CNNM1
Metal transporter CNNM1 (Ancient conserved domain-containing protein 1) (Cyclin-M1) Q9NRU3 FUNCTION: Probable metal transporter.
CNNM2
Metal transporter CNNM2 (Ancient conserved domain-containing protein 2) (Cyclin-M2) Q9H8M5 FUNCTION: Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity).
CNN3
Calponin-3 (Calponin, acidic isoform) Q15417 FUNCTION: Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity.
F13A1
Coagulation factor XIII A chain (Coagulation factor XIIIa) (EC 2.2.13) (Protein-glutamine gamma-glutamyltransferase A chain) (Transglutaminase A chain) P00488 FUNCTION: Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Note=Secreted into the blood plasma. Cytoplasmic in most tissues, but also secreted in the blood plasma.
DSC1
Desmocollin-1 (Cadherin family member 1) (Desmosomal glycoprotein 2/3) (DG2/DG3) Q08554 FUNCTION: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.
FMC1
Protein FMC1 homolog (ATP synthase assembly factor FMC1, mitochondrial) (Formation of mitochondrial complex V assembly factor 1 homolog) Q96HJ9 FUNCTION: Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) .
DSC2
Desmocollin-2 (Cadherin family member 2) (Desmocollin-3) (Desmosomal glycoprotein II) (Desmosomal glycoprotein III) Q02487 FUNCTION: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. SUBCELLULAR LOCATION: Cell membrane .
CIRBP
Cold-inducible RNA-binding protein (A18 hnRNP) (Glycine-rich RNA-binding protein CIRP) Q14011 FUNCTION: Cold-inducible mRNA binding protein that plays a protective role in the genotoxic stress response by stabilizing transcripts of genes involved in cell survival. Acts as a translational activator. Seems to play an essential role in cold-induced suppression of cell proliferation. Binds specifically to the 3’-untranslated regions (3’-UTRs) of stress-responsive transcripts RPA2 and TXN. Acts as a translational repressor (By similarity). Promotes assembly of stress granules (SGs), when overexpressed.
CTCFL
Transcriptional repressor CTCFL (Brother of the regulator of imprinted sites) (CCCTC-binding factor) (CTCF paralog) (CTCF-like protein) (Cancer/testis antigen 27) (CT27) (Zinc finger protein CTCF-T) Q8NI51 FUNCTION: Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 ‘Arg-3’ to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3 lysine 4 (H3K4me2) of MYC and BRCA1 promoters. SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
CTDSPL
CTD small phosphatase-like protein (CTDSP-like) (EC 3.3.16) (Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 3) (NIF-like protein) (Nuclear LIM interactor-interacting factor 1) (NLI-interacting factor 1) (Protein YA22) (hYA22) (RBSP3) (Small C-terminal domain phosphatase 3) (SCP3) (Small CTD phosphatase 3) O15194 FUNCTION: Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells (By similarity). Preferentially catalyzes the dephosphorylation of ‘Ser-5’ within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation.
CISD3
CDGSH iron-sulfur domain-containing protein 3, mitochondrial (MitoNEET-related protein 2) (Miner2) (Mitochondrial inner NEET protein) (MiNT) P0C7P0 FUNCTION: Can transfer its iron-sulfur clusters to the apoferrodoxins FDX1 and FDX2. Contributes to mitochondrial iron homeostasis and in maintaining normal levels of free iron and reactive oxygen species, and thereby contributes to normal mitochondrial function.
FAM151B
Protein FAM151B Q6UXP7
ATAD3A
ATPase family AAA domain-containing protein 3A Q9NVI7 FUNCTION: Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis.
FAM153A
Protein FAM153A (Renal carcinoma antigen NY-REN-7) Q9UHL3
APOM
Apolipoprotein M (Apo-M) (ApoM) (Protein G3a) O95445 FUNCTION: Probably involved in lipid transport. Can bind sphingosine-1-phosphate, myristic acid, palmitic acid and stearic acid, retinol, all-trans-retinoic acid and 9-cis-retinoic acid. Note=Present in high density lipoprotein (HDL) and to a lesser extent in triglyceride-rich lipoproteins (TGRLP) and low density lipoproteins (LDL).
DSCAML1
Down syndrome cell adhesion molecule-like protein 1 (Down syndrome cell adhesion molecule 2) Q8TD84 FUNCTION: Cell adhesion molecule that plays a role in neuronal self-avoidance . Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Promotes both isoneuronal self-avoidance for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to maintain mosaic spacing between AII amacrine cells (By similarity). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity).
FANCD2
Fanconi anemia group D2 protein (Protein FACD2) Q9BXW9 FUNCTION: Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching. Note=Concentrates in nuclear foci during S phase and upon genotoxic stress. At the onset of mitosis, excluded from chromosomes and diffuses into the cytoplasm, returning to the nucleus at the end of cell division. Observed in a few spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites and could be sites of replication fork stalling. The foci are frequently interlinked through BLM-associated ultra-fine DNA bridges. Following aphidicolin treatment, targets chromatid gaps and breaks.
DSCR8
Down syndrome critical region protein 8 (Cancer/testis antigen 25) (CT25) (DCR1-24.0) (Malignant melanoma-associated protein 1) (MMA-1) (Protein MTAG2) Q96T75
CNR1
Cannabinoid receptor 1 (CB-R) (CB1) (CANN6) P21554 FUNCTION: G-protein coupled receptor for endogenous cannabinoids (eCBs), including N-arachidonoylethanolamide (also called anandamide or AEA) and 2-arachidonoylglycerol (2-AG), as well as phytocannabinoids, such as delta(9)-tetrahydrocannabinol (THC) (, , ). Mediates many cannabinoid-induced effects, acting, among others, on food intake, memory loss, gastrointestinal motility, catalepsy, ambulatory activity, anxiety, chronic pain. Signaling typically involves reduction in cyclic AMP (, , ). In the hypothalamus, may have a dual effect on mitochondrial respiration depending upon the agonist dose and possibly upon the cell type. Increases respiration at low doses, while decreases respiration at high doses. At high doses, CNR1 signal transduction involves G-protein alpha-i protein activation and subsequent inhibition of mitochondrial soluble adenylate cyclase, decrease in cyclic AMP concentration, inhibition of protein kinase A (PKA)-dependent phosphorylation of specific subunits of the mitochondrial electron transport system, including NDUFS2. In the hypothalamus, inhibits leptin-induced reactive oxygen species (ROS) formation and mediates cannabinoid-induced increase in SREBF1 and FASN gene expression. In response to cannabinoids, drives the release of orexigenic beta-endorphin, but not that of melanocyte-stimulating hormone alpha/alpha-MSH, from hypothalamic POMC neurons, hence promoting food intake. In the hippocampus, regulates cellular respiration and energy production in response to cannabinoids. Involved in cannabinoid-dependent depolarization-induced suppression of inhibition (DSI), a process in which depolarization of CA1 postsynaptic pyramidal neurons mobilizes eCBs, which retrogradely activate presynaptic CB1 receptors, transiently decreasing GABAergic inhibitory neurotransmission. Also reduces excitatory synaptic transmission (By similarity). In superior cervical ganglions and cerebral vascular smooth muscle cells, inhibits voltage-gated Ca(2+) channels in a constitutive, as well as agonist-dependent manner . In cerebral vascular smooth muscle cells, cannabinoid-induced inhibition of voltage-gated Ca(2+) channels leads to vasodilation and decreased vascular tone (By similarity). Induces leptin production in adipocytes and reduces LRP2-mediated leptin clearance in the kidney, hence participating in hyperleptinemia. In adipose tissue, CNR1 signaling leads to increased expression of SREBF1, ACACA and FASN genes (By similarity). In the liver, activation by endocannabinoids leads to increased de novo lipogenesis and reduced fatty acid catabolism, associated with increased expression of SREBF1/SREBP-1, GCK, ACACA, ACACB and FASN genes. May also affect de novo cholesterol synthesis and HDL-cholesteryl ether uptake. Peripherally modulates energy metabolism (By similarity). In high carbohydrate diet-induced obesity, may decrease the expression of mitochondrial dihydrolipoyl dehydrogenase/DLD in striated muscles, as well as that of selected glucose/ pyruvate metabolic enzymes, hence affecting energy expenditure through mitochondrial metabolism (By similarity). In response to cannabinoid anandamide, elicits a proinflammatory response in macrophages, which involves NLRP3 inflammasome activation and IL1B and IL18 secretion (By similarity). In macrophages infiltrating pancreatic islets, this process may participate in the progression of type-2 diabetes and associated loss of pancreatic beta-cells .
CS
Citrate synthase, mitochondrial (EC 2.3.1) (Citrate (Si)-synthase) O75390 SUBCELLULAR LOCATION: Mitochondrion matrix.
FMNL3
Formin-like protein 3 (Formin homology 2 domain-containing protein 3) (WW domain-binding protein 3) (WBP-3) Q8IVF7 FUNCTION: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Required for developmental angiogenesis (By similarity). In this process, required for microtubule reorganization and for efficient endothelial cell elongation. In quiescent endothelial cells, triggers rearrangement of the actin cytoskeleton, but does not alter microtubule alignement. Note=Enriched in lamellipodia.
CNTNAP2
Contactin-associated protein-like 2 (Cell recognition molecule Caspr2) Q9UHC6 FUNCTION: Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.
CYP2C9
Cytochrome P450 2C9 (EC 1.14.14.1) ((R)-limonene 6-monooxygenase) (EC 1.14.14.53) ((S)-limonene 6-monooxygenase) (EC 1.14.14.51) ((S)-limonene 7-monooxygenase) (EC 1.14.14.52) (CYPIIC9) (Cholesterol 25-hydroxylase) (Cytochrome P-450MP) (Cytochrome P450 MP-4) (Cytochrome P450 MP-8) (Cytochrome P450 PB-1) (S-mephenytoin 4-hydroxylase) P11712 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and steroids (, , , , , , ). 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 (NADPH–hemoprotein reductase) (, , , , , , ). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) (, , , ). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis . Exhibits low catalytic activity for the formation of catechol estrogens from 17beta-estradiol (E2) and estrone (E1), namely 2-hydroxy E1 and E2 . Catalyzes bisallylic hydroxylation and hydroxylation with double-bond migration of polyunsaturated fatty acids (PUFA) (, ). Also metabolizes plant monoterpenes such as limonene. Oxygenates (R)- and (S)-limonene to produce carveol and perillyl alcohol . Contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan . ; Peripheral membrane protein.
CNTNAP4
Contactin-associated protein-like 4 (Cell recognition molecule Caspr4) Q9C0A0 FUNCTION: Presynaptic protein involved in both dopaminergic synaptic transmission and GABAergic system, thereby participating in the structural maturation of inhibitory interneuron synapses. Involved in the dopaminergic synaptic transmission by attenuating dopamine release through a presynaptic mechanism. Also participates in the GABAergic system (By similarity).
CYP2C19
Cytochrome P450 2C19 (EC 1.14.14.1) ((R)-limonene 6-monooxygenase) (EC 1.14.14.53) ((S)-limonene 6-monooxygenase) (EC 1.14.14.51) ((S)-limonene 7-monooxygenase) (EC 1.14.14.52) (CYPIIC17) (CYPIIC19) (Cytochrome P450-11A) (Cytochrome P450-254C) (Fenbendazole monooxygenase (4’-hydroxylating)) (EC 1.14.14.75) (Mephenytoin 4-hydroxylase) P33261 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) (, , ). 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 (NADPH–hemoprotein reductase) (, , ). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates PUFA specifically at the omega-1 position . Catalyzes the epoxidation of double bonds of PUFA (, ). Also metabolizes plant monoterpenes such as limonene. Oxygenates (R)- and (S)-limonene to produce carveol and perillyl alcohol . Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine. Hydroxylates fenbendazole at the 4’ position . SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
CYP2D6
Cytochrome P450 2D6 (EC 1.14.14.-) (CYPIID6) (Cholesterol 25-hydroxylase) (Cytochrome P450-DB1) (Debrisoquine 4-hydroxylase) P10635 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of fatty acids, steroids and retinoids (, , , , ). 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 (NADPH–hemoprotein reductase) (, , , , ). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) (, ). Metabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 20-hydroxyeicosatetraenoic acid ethanolamide (20-HETE-EA) and 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling (, ). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis . Catalyzes the oxidative transformations of all-trans retinol to all-trans retinal, a precursor for the active form all-trans-retinoic acid . Also involved in the oxidative metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants. ; Peripheral membrane protein.
CNTROB
Centrobin (Centrosomal BRCA2-interacting protein) (LYST-interacting protein 8) Q8N137 FUNCTION: Required for centriole duplication. Inhibition of centriole duplication leading to defects in cytokinesis. Note=Centriole-associated, asymmetrically localizes to the daughter centriole.
C15orf41
Protein C15orf41 (Protein HH114) Q9Y2V0 FUNCTION: Plays a role in erythroid cell differentiation.
CYP2F1
Cytochrome P450 2F1 (EC 1.14.14.1) (CYPIIF1) P24903 FUNCTION: May be involved in the metabolism of various pneumotoxicants including naphthalene. Is able to dealkylate ethoxycoumarin, propoxycoumarin, and pentoxyresorufin but possesses no activity toward ethoxyresorufin and only trace dearylation activity toward benzyloxyresorufin. Bioactivates 3-methylindole (3MI) by dehydrogenation to the putative electrophile 3-methylene-indolenine.
C10orf25
Uncharacterized protein C10orf25 Q5T742 SUBCELLULAR LOCATION: Secreted .
C15orf54
Putative uncharacterized protein C15orf54 Q8N8G6
LINC01553
Putative uncharacterized protein encoded by LINC01553 A4QN01
C10orf95
Uncharacterized protein C10orf95 Q9H7T3
ADAR
Double-stranded RNA-specific adenosine deaminase (DRADA) (EC 3.4.37) (136 kDa double-stranded RNA-binding protein) (p136) (Interferon-inducible protein 4) (IFI-4) (K88DSRBP) P55265 FUNCTION: Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing (, , ). This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2) and serotonin (HTR2C) and GABA receptor (GABRA3). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alters their functional activities. Exhibits low-level editing at the GRIA2 Q/R site, but edits efficiently at the R/G site and HOTSPOT1. Its viral RNA substrates include: hepatitis C virus (HCV), vesicular stomatitis virus (VSV), measles virus (MV), hepatitis delta virus (HDV), and human immunodeficiency virus type 1 (HIV-1). Exhibits either a proviral (HDV, MV, VSV and HIV-1) or an antiviral effect (HCV) and this can be editing-dependent (HDV and HCV), editing-independent (VSV and MV) or both (HIV-1). Impairs HCV replication via RNA editing at multiple sites. Enhances the replication of MV, VSV and HIV-1 through an editing-independent mechanism via suppression of EIF2AK2/PKR activation and function. Stimulates both the release and infectivity of HIV-1 viral particles by an editing-dependent mechanism where it associates with viral RNAs and edits adenosines in the 5’UTR and the Rev and Tat coding sequence. Can enhance viral replication of HDV via A-to-I editing at a site designated as amber/W, thereby changing an UAG amber stop codon to an UIG tryptophan (W) codon that permits synthesis of the large delta antigen (L-HDAg) which has a key role in the assembly of viral particles. However, high levels of ADAR1 inhibit HDV replication.
C10orf105
Uncharacterized protein C10orf105 Q8TEF2 SUBCELLULAR LOCATION: Membrane .
CYP2W1
Cytochrome P450 2W1 (EC 1.14.14.-) (CYPIIW1) Q8TAV3 FUNCTION: Seems to have broad catalytic activity towards several chemicals, including polycyclic aromatic hydrocarbon dihydrodiols and aromatic amines (, ). Active also in the metabolism of indoline substrates and is able to activate aflatoxin B1 into cytotoxic products . Furthermore, it seems to be involved in the oxydation of lysophospholipids and fatty acids .
C11orf16
Uncharacterized protein C11orf16 Q9NQ32
LINC00167
Putative uncharacterized protein encoded by LINC00167 Q96N53
C11orf40
Putative uncharacterized protein C11orf40 (Ro/SSA1-related protein) Q8WZ69
CYP3A43
Cytochrome P450 3A43 (EC 1.14.14.1) Q9HB55 FUNCTION: Exhibits low testosterone 6-beta-hydroxylase activity. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
C11orf71
Uncharacterized protein C11orf71 Q6IPW1
SLC2A4
Solute carrier family 2, facilitated glucose transporter member 4 (Glucose transporter type 4, insulin-responsive) (GLUT-4) P14672 FUNCTION: Insulin-regulated facilitative glucose transporter, which plays a key role in removal of glucose from circulation. Response to insulin is regulated by its intracellular localization: in the absence of insulin, it is efficiently retained intracellularly within storage compartments in muscle and fat cells. Upon insulin stimulation, translocates from these compartments to the cell surface where it transports glucose from the extracellular milieu into the cell.
C11orf68
UPF0696 protein C11orf68 (Basophilic leukemia-expressed protein Bles03) (Protein p5326) Q9H3H3
C11orf87
Uncharacterized protein C11orf87 Q6NUJ2 SUBCELLULAR LOCATION: Membrane .
FBP2
Fructose-1,6-bisphosphatase isozyme 2 (FBPase 2) (EC 3.3.11) (D-fructose-1,6-bisphosphate 1-phosphohydrolase 2) (Muscle FBPase) O00757 FUNCTION: Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate.
DDR1
Epithelial discoidin domain-containing receptor 1 (Epithelial discoidin domain receptor 1) (EC 2.10.1) (CD167 antigen-like family member A) (Cell adhesion kinase) (Discoidin receptor tyrosine kinase) (HGK2) (Mammary carcinoma kinase 10) (MCK-10) (Protein-tyrosine kinase 3A) (Protein-tyrosine kinase RTK-6) (TRK E) (Tyrosine kinase DDR) (Tyrosine-protein kinase CAK) (CD antigen CD167a) Q08345 FUNCTION: Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell attachment to the extracellular matrix, remodeling of the extracellular matrix, cell migration, differentiation, survival and cell proliferation. Collagen binding triggers a signaling pathway that involves SRC and leads to the activation of MAP kinases. Regulates remodeling of the extracellular matrix by up-regulation of the matrix metalloproteinases MMP2, MMP7 and MMP9, and thereby facilitates cell migration and wound healing. Required for normal blastocyst implantation during pregnancy, for normal mammary gland differentiation and normal lactation. Required for normal ear morphology and normal hearing (By similarity). Promotes smooth muscle cell migration, and thereby contributes to arterial wound healing. Also plays a role in tumor cell invasion. Phosphorylates PTPN11.; SUBCELLULAR LOCATION: [Isoform 4]: Cell membrane; Single-pass type I membrane protein.
CYP3A5
Cytochrome P450 3A5 (EC 1.14.14.1) (CYPIIIA5) (Cytochrome P450-PCN3) P20815 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of steroid hormones and vitamins (, , , ). 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 (NADPH–hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds (, , , ). Exhibits high catalytic activity for the formation of catechol estrogens from 17beta-estradiol (E2) and estrone (E1), namely 2-hydroxy E1 and E2 . Catalyzes 6beta-hydroxylation of the steroid hormones testosterone, progesterone, and androstenedione . Catalyzes the oxidative conversion of all-trans-retinol to all-trans-retinal, a rate-limiting step for the biosynthesis of all-trans-retinoic acid (atRA) . Further metabolizes all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may play a role in hepatic atRA clearance . Also involved in the oxidative metabolism of xenobiotics, including calcium channel blocking drug nifedipine and immunosuppressive drug cyclosporine . SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
C11orf94
Uncharacterized protein C11orf94 C9JXX5 SUBCELLULAR LOCATION: Secreted .
FN1
Fibronectin (FN) (Cold-insoluble globulin) (CIG) [Cleaved into: Anastellin; Ugl-Y1; Ugl-Y2; Ugl-Y3] P02751 FUNCTION: Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin. Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization. Participates in the regulation of type I collagen deposition by osteoblasts.; FUNCTION: Anastellin binds fibronectin and induces fibril formation. This fibronectin polymer, named superfibronectin, exhibits enhanced adhesive properties. Both anastellin and superfibronectin inhibit tumor growth, angiogenesis and metastasis. Anastellin activates p38 MAPK and inhibits lysophospholipid signaling. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix .
CLUL1
Clusterin-like protein 1 (Retinal-specific clusterin-like protein) Q15846 SUBCELLULAR LOCATION: Secreted .
CDK5RAP2
CDK5 regulatory subunit-associated protein 2 (CDK5 activator-binding protein C48) (Centrosome-associated protein 215) Q96SN8 FUNCTION: Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of the gamma-tubulin ring complex (gamma-TuRC) onto centrosomes . In complex with PDE4DIP isoform 13/MMG8/SMYLE, MAPRE1 and AKAP9, contributes to microtubules nucleation and extension from the centrosome to the cell periphery . Required for the recruitment of AKAP9 to centrosomes . Plays a role in neurogenesis (By similarity).
FUT11
Alpha-(1,3)-fucosyltransferase 11 (EC 2.1.-) (Fucosyltransferase XI) (Fuc-TXI) (FucT-XI) (Galactoside 3-L-fucosyltransferase 11) (Fucosyltransferase 11) Q495W5 FUNCTION: Probable fucosyltransferase.
C2
Complement C2 (EC 3.21.43) (C3/C5 convertase) [Cleaved into: Complement C2b fragment; Complement C2a fragment] P06681 FUNCTION: Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor C4b to generate the C3 or C5 convertase. SUBCELLULAR LOCATION: Secreted.
CYP4F3
Cytochrome P450 4F3 (EC 1.14.14.1) (20-hydroxyeicosatetraenoic acid synthase) (20-HETE synthase) (CYPIVF3) (Cytochrome P450-LTB-omega) (Docosahexaenoic acid omega-hydroxylase CYP4F3) (EC 1.14.14.79) (Leukotriene-B(4) 20-monooxygenase 2) (Leukotriene-B(4) omega-hydroxylase 2) (EC 1.14.14.94) Q08477 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and their oxygenated derivatives (oxylipins) (, , , , , , , , ). 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). May play a role in inactivation of proinflammatory and anti-inflammatory oxylipins during the resolution of inflammation (, , , , , , , , , ).
CYP4F12
Cytochrome P450 4F12 (EC 1.14.14.1) (CYPIVF12) Q9HCS2 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of endogenous polyunsaturated fatty acids (PUFAs). 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, with preference for omega-2 position. Metabolizes (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) toward 18-hydroxy arachidonate . Catalyzes the epoxidation of double bonds of PUFAs such as docosapentaenoic and docosahexaenoic acids . Has low omega-hydroxylase activity toward leukotriene B4 and arachidonate . Involved in the metabolism of xenobiotics. Catalyzes the hydroxylation of the antihistamine drug ebastine .
CMTM1
CKLF-like MARVEL transmembrane domain-containing protein 1 (Chemokine-like factor superfamily member 1) Q8IZ96 SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
FUT8
Alpha-(1,6)-fucosyltransferase (Alpha1-6FucT) (EC 2.1.68) (Fucosyltransferase 8) (GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase) (GDP-fucose–glycoprotein fucosyltransferase) (Glycoprotein 6-alpha-L-fucosyltransferase) Q9BYC5 FUNCTION: Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.
CMTM6
CKLF-like MARVEL transmembrane domain-containing protein 6 (Chemokine-like factor superfamily member 6) Q9NX76 FUNCTION: Master regulator of recycling and plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. Associates with both constitutive and IFNG-induced PD-L1/CD274 at recycling endosomes, where it protects PD-L1/CD274 from being targeted for lysosomal degradation, likely by preventing its STUB1-mediated ubiquitination. May stabilize PD-L1/CD274 expression on antigen presenting cells and potentiates inhibitory signaling by PDCD1/CD279, its receptor on T-cells, ultimately triggering T-cell anergy.
COL6A3
Collagen alpha-3(VI) chain P12111 FUNCTION: Collagen VI acts as a cell-binding protein. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix .
DDX46
Probable ATP-dependent RNA helicase DDX46 (EC 3.4.13) (DEAD box protein 46) (PRP5 homolog) Q7L014 FUNCTION: Plays an essential role in splicing, either prior to, or during splicing A complex formation. Note=Present in Cajal bodies (CBs) and nuclear speckles.
C12orf40
Uncharacterized protein C12orf40 Q86WS4
AQP12A
Aquaporin-12A (AQP-12) Q8IXF9 FUNCTION: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.
DDX47
Probable ATP-dependent RNA helicase DDX47 (EC 3.4.13) (DEAD box protein 47) Q9H0S4 FUNCTION: Involved in apoptosis. May have a role in rRNA processing and mRNA splicing. Associates with pre-rRNA precursors. Note=Localizes in the nucleolar-organizing region during ribosome biogenesis.
COL9A2
Collagen alpha-2(IX) chain Q14055 FUNCTION: Structural component of hyaline cartilage and vitreous of the eye. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix .
DDX59
Probable ATP-dependent RNA helicase DDX59 (EC 3.4.13) (DEAD box protein 59) (Zinc finger HIT domain-containing protein 5) Q5T1V6 SUBCELLULAR LOCATION: Cytoplasm . Note=Exhibits granular localization in the nucleus, as well as in the cytoplasm.
AQP5
Aquaporin-5 (AQP-5) P55064 FUNCTION: Forms a water-specific channel (, ). Plays an important role in fluid secretion in salivary glands (By similarity). Required for TRPV4 activation by hypotonicity. Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells . Seems to play a redundant role in water transport in the eye, lung and in sweat glands (By similarity).
AQP6
Aquaporin-6 (AQP-6) (Aquaporin-2-like) (Kidney-specific aquaporin) (hKID) Q13520 FUNCTION: Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism.
CPLX1
Complexin-1 (Complexin I) (CPX I) (Synaphin-2) O14810 FUNCTION: Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles . Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion, thereby preventing SNAREs from releasing neurotransmitters until an action potential arrives at the synapse . Also involved in glucose-induced secretion of insulin by pancreatic beta-cells. Essential for motor behavior.
FAM182A
Protein FAM182A Q5T1J6
ATG101
Autophagy-related protein 101 Q9BSB4 FUNCTION: Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal degradation.
FAM189A1
Protein FAM189A1 (Transmembrane protein 228) O60320 SUBCELLULAR LOCATION: Membrane .
CD207
C-type lectin domain family 4 member K (Langerin) (CD antigen CD207) Q9UJ71 FUNCTION: Calcium-dependent lectin displaying mannose-binding specificity. Induces the formation of Birbeck granules (BGs); is a potent regulator of membrane superimposition and zippering. Binds to sulfated as well as mannosylated glycans, keratan sulfate (KS) and beta-glucans. Facilitates uptake of antigens and is involved in the routing and/or processing of antigen for presentation to T cells. Major receptor on primary Langerhans cells for Candida species, Saccharomyces species, and Malassezia furfur. Protects against human immunodeficiency virus-1 (HIV-1) infection. Binds to high-mannose structures present on the envelope glycoprotein which is followed by subsequent targeting of the virus to the Birbeck granules leading to its rapid degradation. Note=Found in Birbeck granules (BGs), which are organelles consisting of superimposed and zippered membranes.
CLTA
Clathrin light chain A (Lca) P09496 FUNCTION: Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (, ).
CLCC1
Chloride channel CLIC-like protein 1 (Mid-1-related chloride channel protein 1) Q96S66 FUNCTION: Seems to act as a chloride ion channel.
CLDN19
Claudin-19 Q8N6F1 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.
C18orf21
UPF0711 protein C18orf21 (HBV X-transactivated gene 13 protein) (HBV XAg-transactivated protein 13) Q32NC0
DTL
Denticleless protein homolog (DDB1- and CUL4-associated factor 2) (Lethal(2) denticleless protein homolog) (Retinoic acid-regulated nuclear matrix-associated protein) Q9NZJ0 FUNCTION: Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control, DNA damage response and translesion DNA synthesis. The DCX(DTL) complex, also named CRL4(CDT2) complex, mediates the polyubiquitination and subsequent degradation of CDT1, CDKN1A/p21(CIP1), FBH1, KMT5A and SDE2 (, , , , , , , , , , , , ). CDT1 degradation in response to DNA damage is necessary to ensure proper cell cycle regulation of DNA replication (, , ). CDKN1A/p21(CIP1) degradation during S phase or following UV irradiation is essential to control replication licensing (, ). KMT5A degradation is also important for a proper regulation of mechanisms such as TGF-beta signaling, cell cycle progression, DNA repair and cell migration . Most substrates require their interaction with PCNA for their polyubiquitination: substrates interact with PCNA via their PIP-box, and those containing the ‘K+4’ motif in the PIP box, recruit the DCX(DTL) complex, leading to their degradation. In undamaged proliferating cells, the DCX(DTL) complex also promotes the ‘Lys-164’ monoubiquitination of PCNA, thereby being involved in PCNA-dependent translesion DNA synthesis (, , , ). The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 . Nucleus membrane; Peripheral membrane protein; Nucleoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome. Note=Nuclear matrix-associated protein. Translocates from the interphase nucleus to the metaphase cytoplasm during mitosis.
CR1
Complement receptor type 1 (C3b/C4b receptor) (CD antigen CD35) P17927 FUNCTION: Membrane immune adherence receptor that plays a critical role in the capture and clearance of complement-opsonized pathogens by erythrocytes and monocytes/macrophages . Mediates the binding by these cells of particles and immune complexes that have activated complement to eliminate them from the circulation . Acts also in the inhibition of spontaneous complement activation by impairing the formation and function of the alternative and classical pathway C3/C5 convertases, and by serving as a cofactor for the cleavage by factor I of C3b to iC3b, C3c and C3d,g, and of C4b to C4c and C4d (, ). Plays also a role in immune regulation by contributing, upon ligand binding, to the generation of regulatory T cells from activated helper T cells . ; Single-pass type I membrane protein.
CR2
Complement receptor type 2 (Cr2) (Complement C3d receptor) (Epstein-Barr virus receptor) (EBV receptor) (CD antigen CD21) P20023 FUNCTION: Receptor for complement C3, for the Epstein-Barr virus on human B-cells and T-cells and for HNRNPU . Participates in B lymphocytes activation . ; Single-pass type I membrane protein.
CRYBG3
Very large A-kinase anchor protein (vlAKAP) (Beta/gamma crystallin domain-containing protein 3) Q68DQ2 FUNCTION: [Isoform vlAKAP]: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA).
DTX3L
E3 ubiquitin-protein ligase DTX3L (EC 2.2.27) (B-lymphoma- and BAL-associated protein) (Protein deltex-3-like) (RING-type E3 ubiquitin transferase DTX3L) (Rhysin-2) (Rhysin2) Q8TDB6 FUNCTION: E3 ubiquitin-protein ligase which, in association with ADP-ribosyltransferase PARP9, plays a role in DNA damage repair and in interferon-mediated antiviral responses (, , , ). Monoubiquitinates several histones, including histone H2A, H2B, H3 and H4 . In response to DNA damage, mediates monoubiquitination of ‘Lys-91’ of histone H4 (H4K91ub1) . The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 ‘Lys-20’ methylation (H4K20me) . PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites . By monoubiquitinating histone H2B HIST1H2BH/H2BJ and thereby promoting chromatin remodeling, positively regulates STAT1-dependent interferon-stimulated gene transcription and thus STAT1-mediated control of viral replication . Independently of its catalytic activity, promotes the sorting of chemokine receptor CXCR4 from early endosome to lysosome following CXCL12 stimulation by reducing E3 ligase ITCH activity and thus ITCH-mediated ubiquitination of endosomal sorting complex required for transport ESCRT-0 components HGS and STAM . In addition, required for the recruitment of HGS and STAM to early endosomes . In association with PARP9, plays a role in antiviral responses by mediating ‘Lys-48’-linked ubiquitination of encephalomyocarditis virus (EMCV) and human rhinovirus (HRV) C3 proteases and thus promoting their proteosomal-mediated degradation .
CRCT1
Cysteine-rich C-terminal protein 1 (Protein NICE-1) Q9UGL9
ACKR2
Atypical chemokine receptor 2 (C-C chemokine receptor D6) (Chemokine receptor CCR-10) (Chemokine receptor CCR-9) (Chemokine-binding protein 2) (Chemokine-binding protein D6) O00590 FUNCTION: Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines including CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL17, CCL22, CCL23, CCL24, SCYA2/MCP-1, SCY3/MIP-1-alpha, SCYA5/RANTES and SCYA7/MCP-3. Upon active ligand stimulation, activates a beta-arrestin 1 (ARRB1)-dependent, G protein-independent signaling pathway that results in the phosphorylation of the actin-binding protein cofilin (CFL1) through a RAC1-PAK1-LIMK1 signaling pathway. Activation of this pathway results in up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. By scavenging chemokines in tissues, on the surfaces of lymphatic vessels, and in placenta, plays an essential role in the resolution (termination) of the inflammatory response and in the regulation of adaptive immune responses. Plays a major role in the immune silencing of macrophages during the resolution of inflammation. Acts as a regulator of inflammatory leukocyte interactions with lymphatic endothelial cells (LECs) and is required for immature/mature dendritic cells discrimination by LECs. SUBCELLULAR LOCATION: Early endosome. Recycling endosome. Cell membrane; Multi-pass membrane protein. Note=Predominantly localizes to endocytic vesicles, and upon stimulation by the ligand is internalized via clathrin-coated pits. Once internalized, the ligand dissociates from the receptor, and is targeted to degradation while the receptor is recycled back to the cell membrane.
CEP85
Centrosomal protein of 85 kDa (Cep85) (Coiled-coil domain-containing protein 21) Q6P2H3 FUNCTION: Acts as a negative regulator of NEK2 to maintain the centrosome integrity in interphase. Suppresses centrosome disjunction by inhibiting NEK2 kinase activity .
CERKL
Ceramide kinase-like protein Q49MI3 FUNCTION: Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions. SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm. Nucleus, nucleolus. Golgi apparatus, trans-Golgi network. Endoplasmic reticulum.
BSN
Protein bassoon (Zinc finger protein 231) Q9UPA5 FUNCTION: Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released . After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts . At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis (By similarity). Functions also in processes other than assembly such as the regulation of specific presynaptic protein ubiquitination by interacting with SIAH1 or the regulation of presynaptic autophagy by associating with ATG5 (By similarity). Mediates also synapse to nucleus communication leading to reconfiguration of gene expression by associating with the transcriptional corepressor CTBP1 and by subsequently reducing the size of its pool available for nuclear import (By similarity).
CCDC149
Coiled-coil domain-containing protein 149 Q6ZUS6
TMEM30CP
Cell cycle control protein 50C (Transmembrane protein 30C) A0ZSE6 SUBCELLULAR LOCATION: Membrane .
BRINP2
BMP/retinoic acid-inducible neural-specific protein 2 (DBCCR1-like protein 2) Q9C0B6 FUNCTION: Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition.
BRS3
Bombesin receptor subtype-3 (BRS-3) P32247 FUNCTION: Role in sperm cell division, maturation, or function. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CCDC173
Coiled-coil domain-containing protein 173 Q0VFZ6
ASAH2B
Putative inactive neutral ceramidase B (ASAH2-like protein) (Putative inactive N-acylsphingosine amidohydrolase 2B) (Putative inactive non-lysosomal ceramidase B) P0C7U1
ARMC2
Armadillo repeat-containing protein 2 Q8NEN0 FUNCTION: Required for sperm flagellum axoneme organization and function (By similarity). Involved in axonemal central pair complex assembly and/or stability (By similarity).
ARMH3
Armadillo-like helical domain-containing protein 3 Q5T2E6 FUNCTION: Involved in GBF1 recruitment, Golgi maintenance and protein secretion.
COL19A1
Collagen alpha-1(XIX) chain (Collagen alpha-1(Y) chain) Q14993 FUNCTION: May act as a cross-bridge between fibrils and other extracellular matrix molecules. Involved in skeletal myogenesis in the developing esophagus. May play a role in organization of the pericellular matrix or the sphinteric smooth muscle.
COMP
Cartilage oligomeric matrix protein (COMP) (Thrombospondin-5) (TSP5) P49747 FUNCTION: May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity). SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
CCSER1
Serine-rich coiled-coil domain-containing protein 1 (Coiled-coil serine-rich protein 1) Q9C0I3
AGAP1
Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 (AGAP-1) (Centaurin-gamma-2) (Cnt-g2) (GTP-binding and GTPase-activating protein 1) (GGAP1) Q9UPQ3 FUNCTION: GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system. Note=Associates with the endocytic compartment.
CDC123
Cell division cycle protein 123 homolog (Protein D123) (HT-1080) (PZ32) O75794 FUNCTION: Required for S phase entry of the cell cycle.
CDH10
Cadherin-10 (T2-cadherin) Q9Y6N8 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. SUBCELLULAR LOCATION: Cell membrane .
BACH2
Transcription regulator protein BACH2 (BTB and CNC homolog 2) Q9BYV9 FUNCTION: Transcriptional regulator that acts as repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1 . Positively regulates the nuclear import of actin (By similarity). Is a key regulator of adaptive immunity, crucial for the maintenance of regulatory T-cell function and B-cell maturation .
CDH22
Cadherin-22 (Pituitary and brain cadherin) (PB-cadherin) Q9UJ99 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. PB-cadherins may have a role in the morphological organization of pituitary gland and brain tissues (By similarity).
B4GALT6
Beta-1,4-galactosyltransferase 6 (Beta-1,4-GalTase 6) (Beta4Gal-T6) (b4Gal-T6) (EC 2.1.-) (Glucosylceramide beta-1,4-galactosyltransferase) (EC 2.1.274) (Lactosylceramide synthase) (LacCer synthase) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6) (UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6) Q9UBX8 FUNCTION: Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (, , ). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity).
CALM1
Calmodulin-1 P0DP23 FUNCTION: Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis . Mediates calcium-dependent inactivation of CACNA1C . Positively regulates calcium-activated potassium channel activity of KCNN2 . Note=Distributed throughout the cell during interphase, but during mitosis becomes dramatically localized to the spindle poles and the spindle microtubules.
CAMP
Cathelicidin antimicrobial peptide (18 kDa cationic antimicrobial protein) (CAP-18) (hCAP-18) [Cleaved into: Antibacterial peptide FALL-39 (FALL-39 peptide antibiotic); Antibacterial peptide LL-37] P49913 FUNCTION: Binds to bacterial lipopolysaccharides (LPS), has antibacterial activity. SUBCELLULAR LOCATION: Secreted.
CDK3
Cyclin-dependent kinase 3 (EC 2.11.22) (Cell division protein kinase 3) Q00526 FUNCTION: Serine/threonine-protein kinase that plays a critical role in the control of the eukaryotic cell cycle; involved in G0-G1 and G1-S cell cycle transitions. Interacts with CCNC/cyclin-C during interphase. Phosphorylates histone H1, ATF1, RB1 and CABLES1. ATF1 phosphorylation triggers ATF1 transactivation and transcriptional activities, and promotes cell proliferation and transformation. CDK3/cyclin-C mediated RB1 phosphorylation is required for G0-G1 transition. Promotes G1-S transition probably by contributing to the activation of E2F1, E2F2 and E2F3 in a RB1-independent manner.
AP4E1
AP-4 complex subunit epsilon-1 (AP-4 adaptor complex subunit epsilon) (Adaptor-related protein complex 4 subunit epsilon-1) (Epsilon subunit of AP-4) (Epsilon-adaptin) Q9UPM8 FUNCTION: Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (, ). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).
CHPF
Chondroitin sulfate synthase 2 (EC 2.1.175) (EC 2.1.226) (Chondroitin glucuronyltransferase 2) (Chondroitin-polymerizing factor) (ChPF) (Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II) (N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II) (N-acetylgalactosaminyltransferase 2) Q8IZ52 FUNCTION: Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Isoform 2 may facilitate PRKN transport into the mitochondria. In collaboration with PRKN, isoform 2 may enhance cell viability and protect cells from oxidative stress.
APBA3
Amyloid-beta A4 precursor protein-binding family A member 3 (Adapter protein X11gamma) (Neuron-specific X11L2 protein) (Neuronal Munc18-1-interacting protein 3) (Mint-3) O96018 FUNCTION: May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN.
BCORP1
Putative BCoR-like protein 2 (BCL-6 corepressor pseudogene 1) (BCL-6 corepressor-like protein 2) Q8N888
APOB
Apolipoprotein B-100 (Apo B-100) [Cleaved into: Apolipoprotein B-48 (Apo B-48)] P04114 FUNCTION: Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor. SUBCELLULAR LOCATION: Cytoplasm .
