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