Human Genes Group 4 Flashcards
FAM117B
Protein FAM117B (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein) Q6P1L5
FGB
Fibrinogen beta chain [Cleaved into: Fibrinopeptide B; Fibrinogen beta chain] P02675 FUNCTION: Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin 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. 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.
BECN1
Beclin-1 (Coiled-coil myosin-like BCL2-interacting protein) (Protein GT197) [Cleaved into: Beclin-1-C 35 kDa; Beclin-1-C 37 kDa] Q14457 FUNCTION: Plays a central role in autophagy (, ). Acts as core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (, , ). Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved in endocytosis . Protects against infection by a neurovirulent strain of Sindbis virus . May play a role in antiviral host defense.
FLVCR1
Feline leukemia virus subgroup C receptor-related protein 1 (Feline leukemia virus subgroup C receptor) (hFLVCR) Q9Y5Y0 FUNCTION: [Isoform 1]: Heme transporter that exports cytoplasmic heme. It can also export coproporphyrin and protoporphyrin IX, which are both intermediate products in the heme biosynthetic pathway. Does not export bilirubin. Heme export depends on the presence of HPX and is required to maintain intracellular free heme balance, protecting cells from heme toxicity. Heme export provides protection from heme or ferrous iron toxicities in liver, brain, sensory neurons and during erythtopoiesis, a process in which heme synthesis intensifies. Causes susceptibility to FeLV-C in vitro.
ATP2B1
Plasma membrane calcium-transporting ATPase 1 (EC 7.2.10) (Plasma membrane calcium ATPase isoform 1) (PMCA1) (Plasma membrane calcium pump isoform 1) P20020 FUNCTION: Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells .
FLVCR2
Feline leukemia virus subgroup C receptor-related protein 2 (Calcium-chelate transporter) (CCT) Q9UPI3 FUNCTION: Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
ATP2B2
Plasma membrane calcium-transporting ATPase 2 (PMCA2) (EC 7.2.10) (Plasma membrane calcium ATPase isoform 2) (Plasma membrane calcium pump isoform 2) Q01814 FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. SUBCELLULAR LOCATION: Cell junction, synapse .
C20orf194
Uncharacterized protein C20orf194 Q5TEA3 FUNCTION: May act as an effector for ARL3.
APMAP
Adipocyte plasma membrane-associated protein (Protein BSCv) Q9HDC9 FUNCTION: Exhibits strong arylesterase activity with beta-naphthyl acetate and phenyl acetate. May play a role in adipocyte differentiation.
C20orf197
Uncharacterized protein C20orf197 Q8N268
FAM120B
Constitutive coactivator of peroxisome proliferator-activated receptor gamma (Constitutive coactivator of PPAR-gamma) (Constitutive coactivator of PPARG) (PPARG constitutive coactivator 1) (PGCC1) (Protein FAM120B) Q96EK7 FUNCTION: Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity).
CT45A1
Cancer/testis antigen family 45 member A1 (Cancer/testis antigen 45-1) (Cancer/testis antigen 45A1) Q5HYN5
CT45A9
Cancer/testis antigen family 45 member A9 (Cancer/testis antigen 45A9) P0DMV2
CT45A5
Cancer/testis antigen family 45 member A5 (Cancer/testis antigen 45-5) (Cancer/testis antigen 45A5) P0DMU8
ARG1
Arginase-1 (EC 3.3.1) (Liver-type arginase) (Type I arginase) P05089 FUNCTION: Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys.
BEND2
BEN domain-containing protein 2 Q8NDZ0
CT45A8
Cancer/testis antigen family 45 member A8 (Cancer/testis antigen 45A8) P0DMV1
ATP2C2
Calcium-transporting ATPase type 2C member 2 (ATPase 2C2) (EC 7.2.10) (Secretory pathway Ca(2+)-ATPase 2) O75185 FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium.
BEND6
BEN domain-containing protein 6 Q5SZJ8 FUNCTION: Acts as a corepressor of recombining binding protein suppressor hairless (RBPJ) and inhibits Notch signaling in neural stem cells, thereby opposing their self-renewal and promoting neurogenesis .
CTDNEP1
CTD nuclear envelope phosphatase 1 (EC 3.3.16) (Serine/threonine-protein phosphatase dullard) O95476 FUNCTION: Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol. May antagonize BMP signaling. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein.
BEND7
BEN domain-containing protein 7 Q8N7W2
GLTPD2
Glycolipid transfer protein domain-containing protein 2 A6NH11
FAM124A
Protein FAM124A Q86V42
BEST1
Bestrophin-1 (TU15B) (Vitelliform macular dystrophy protein 2) O76090 FUNCTION: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.
BEST4
Bestrophin-4 (Vitelliform macular dystrophy 2-like protein 2) Q8NFU0 FUNCTION: Forms calcium-sensitive chloride channels. Permeable to bicarbonate. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
FUCA1
Tissue alpha-L-fucosidase (EC 3.1.51) (Alpha-L-fucosidase I) (Alpha-L-fucoside fucohydrolase 1) (Alpha-L-fucosidase 1) P04066 FUNCTION: Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. SUBCELLULAR LOCATION: Lysosome.
ATP8A2
Phospholipid-transporting ATPase IB (EC 7.2.1) (ATPase class I type 8A member 2) (ML-1) (P4-ATPase flippase complex alpha subunit ATP8A2) Q9NTI2 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. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes. May be involved in vesicle trafficking in neuronal cells. Involved in regulation of neurite outgrowth; acting in synergy with TMEM30A. Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival.
FIBIN
Fin bud initiation factor homolog Q8TAL6 SUBCELLULAR LOCATION: Secreted .
BET1
BET1 homolog (hBET1) (Golgi vesicular membrane-trafficking protein p18) O15155 FUNCTION: Required for vesicular transport from the ER to the Golgi complex. Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane (By similarity).
CNGB1
Cyclic nucleotide-gated cation channel beta-1 (Cyclic nucleotide-gated cation channel 4) (CNG channel 4) (CNG-4) (CNG4) (Cyclic nucleotide-gated cation channel gamma) (Cyclic nucleotide-gated cation channel modulatory subunit) (Cyclic nucleotide-gated channel beta-1) (CNG channel beta-1) (Glutamic acid-rich protein) (GARP) Q14028 FUNCTION: Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP.; FUNCTION: Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor ‘dark noise’ and allowing these sensory cells to operate at the single photon detection limit. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
ATAD1
ATPase family AAA domain-containing protein 1 (EC 3.1.3) (Thorase) Q8NBU5 FUNCTION: ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity).
CIP2A
Protein CIP2A (Cancerous inhibitor of PP2A) (p90 autoantigen) Q8TCG1 FUNCTION: Oncoprotein that inhibits PP2A and stabilizes MYC in human malignancies. Promotes anchorage-independent cell growth and tumor formation.
APOBR
Apolipoprotein B receptor (Apolipoprotein B-100 receptor) (Apolipoprotein B-48 receptor) (Apolipoprotein B48 receptor) (apoB-48R) Q0VD83 FUNCTION: Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL). Binds and internalizes TRL when out of the context of the macrophage. May provide essential lipids to reticuloendothelial cells. Could also be involved in foam cell formation with elevated TRL and remnant lipoprotein (RLP). Mediates the rapid high-affinity uptake of chylomicrons (CM), HTG-VLDL, and trypsinized (tryp) VLDL devoid of APOE in vitro in macrophages. Note=Binds monocyte-macrophage membrane. Thought to be anchored in the membrane through an interaction with an integral membrane protein.
CNIH4
Protein cornichon homolog 4 (CNIH-4) (Cornichon family AMPA receptor auxiliary protein 4) Q9P003 FUNCTION: Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery .
CIPC
CLOCK-interacting pacemaker (CLOCK-interacting circadian protein) Q9C0C6 FUNCTION: Transcriptional repressor which may act as a negative-feedback regulator of CLOCK-ARNTL/BMAL1 transcriptional activity in the circadian-clock mechanism. May stimulate ARNTL/BMAL1-dependent phosphorylation of CLOCK. However, the physiogical relevance of these observations is unsure, since experiments in an animal model showed that CIPC is not critially required for basic circadian clock.
ATAD5
ATPase family AAA domain-containing protein 5 (Chromosome fragility-associated gene 1 protein) Q96QE3 FUNCTION: Involved in DNA damage response. Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages-induced apoptosis.
APOC3
Apolipoprotein C-III (Apo-CIII) (ApoC-III) (Apolipoprotein C3) P02656 FUNCTION: Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma (, ). Plays a multifaceted role in triglyceride homeostasis (, ). Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride-rich lipoproteins (TRLs) (, ). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors (, ). Formed of several curved helices connected via semiflexible hinges, so that it can wrap tightly around the curved micelle surface and easily adapt to the different diameters of its natural binding partners .
DSCR10
Down syndrome critical region protein 10 P59022
FRMD6-AS1
Putative uncharacterized protein FRMD6-AS1 (FRMD6 antisense RNA 1) (FRMD6 antisense gene protein 1) P0C7T7
CTNNBL1
Beta-catenin-like protein 1 (Nuclear-associated protein) (NAP) (Testis development protein NYD-SP19) Q8WYA6 FUNCTION: Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated Ig class switching recombination (CSR). May induce apoptosis. SUBCELLULAR LOCATION: [Isoform 1]: Nucleus.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm .
CTBP1
C-terminal-binding protein 1 (CtBP1) (EC 1.1.-) Q13363 FUNCTION: Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation.
CLPX
ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial O76031 FUNCTION: ATP-dependent specificity component of the Clp protease complex. Hydrolyzes ATP . Targets specific substrates for degradation by the Clp complex (, ). Can perform chaperone functions in the absence of CLPP. Enhances the DNA-binding activity of TFAM and is required for maintaining a normal mitochondrial nucleoid structure . ATP-dependent unfoldase that stimulates the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activating 5-aminolevulinate (ALA) synthesis, the first step in heme biosynthesis . Important for efficient erythropoiesis through upregulation of heme biosynthesis (, ). SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid.
CNOT1
CCR4-NOT transcription complex subunit 1 (CCR4-associated factor 1) (Negative regulator of transcription subunit 1 homolog) (NOT1H) (hNOT1) A5YKK6 FUNCTION: Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins mediating the complex recruitment to selected mRNA 3’UTRs. Involved in degradation of AU-rich element (ARE)-containing mRNAs probably via association with ZFP36. Mediates the recruitment of the CCR4-NOT complex to miRNA targets and to the RISC complex via association with TNRC6A, TNRC6B or TNRC6C. Acts as a transcriptional repressor. Represses the ligand-dependent transcriptional activation by nuclear receptors. Involved in the maintenance of embryonic stem (ES) cell identity.
FAM149B1
Protein FAM149B1 Q96BN6
CISD2
CDGSH iron-sulfur domain-containing protein 2 (Endoplasmic reticulum intermembrane small protein) (MitoNEET-related 1 protein) (Miner1) (Nutrient-deprivation autophagy factor-1) (NAF-1) Q8N5K1 FUNCTION: Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion outer membrane; Single-pass membrane protein. Note=According to , it mainly localizes to the endoplasmic reticulum. However, experiments in mouse showed that it mainly localizes to the mitochondrion outer membrane.
ARGLU1
Arginine and glutamate-rich protein 1 Q9NWB6 FUNCTION: Required for the estrogen-dependent expression of ESR1 target genes. Can act in cooperation with MED1. Note=Recruited, in an estrogen-dependent manner, to ESR1 target gene promoters. Colocalizes with MED1.
CTDSP1
Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 (EC 3.3.16) (Nuclear LIM interactor-interacting factor 3) (NLI-IF) (NLI-interacting factor 3) (Small C-terminal domain phosphatase 1) (SCP1) (Small CTD phosphatase 1) Q9GZU7 FUNCTION: 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. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. Note=Colocalizes with RNA polymerase II.
CNOT7
CCR4-NOT transcription complex subunit 7 (EC 3.13.4) (BTG1-binding factor 1) (CCR4-associated factor 1) (CAF-1) (Caf1a) Q9UIV1 FUNCTION: Has 3’-5’ poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT8. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translational initiation. Additional complex functions may be a consequence of its influence on mRNA expression. Associates with members of the BTG family such as TOB1 and BTG2 and is required for their anti-proliferative activity.
APOH
Beta-2-glycoprotein 1 (APC inhibitor) (Activated protein C-binding protein) (Anticardiolipin cofactor) (Apolipoprotein H) (Apo-H) (Beta-2-glycoprotein I) (B2GPI) (Beta(2)GPI) P02749 FUNCTION: Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells. SUBCELLULAR LOCATION: Secreted.
APOL1
Apolipoprotein L1 (Apolipoprotein L) (Apo-L) (ApoL) (Apolipoprotein L-I) (ApoL-I) O14791 FUNCTION: May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver. SUBCELLULAR LOCATION: Secreted.
APOL4
Apolipoprotein L4 (Apolipoprotein L-IV) (ApoL-IV) Q9BPW4 FUNCTION: May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver (By similarity).
FAM155B
Transmembrane protein FAM155B (Protein TED) (Transmembrane protein 28) O75949 SUBCELLULAR LOCATION: Membrane .
CNPY3
Protein canopy homolog 3 (CTG repeat protein 4a) (Expanded repeat-domain protein CAG/CTG 5) (Protein associated with TLR4) (Trinucleotide repeat-containing gene 5 protein) Q9BT09 FUNCTION: Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses (By similarity).
CYP1B1
Cytochrome P450 1B1 (EC 1.14.14.1) (CYPIB1) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.1.152) Q16678 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, 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) (, , , , ). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity toward E2 at the C-4 position (, ). Metabolizes testosterone and progesterone to B or D ring hydroxylated metabolites . May act as a major enzyme for all-trans retinoic acid biosynthesis in extrahepatic tissues. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (, ). Catalyzes the epoxidation of double bonds of certain PUFA. Converts arachidonic acid toward epoxyeicosatrienoic acid (EpETrE) regioisomers, 8,9-, 11,12-, and 14,15- EpETrE, that function as lipid mediators in the vascular system . Additionally, displays dehydratase activity toward oxygenated eicosanoids hydroperoxyeicosatetraenoates (HpETEs). This activity is independent of cytochrome P450 reductase, NADPH, and O2 . Also involved in the oxidative metabolism of xenobiotics, particularly converting polycyclic aromatic hydrocarbons and heterocyclic aryl amines procarcinogens to DNA-damaging products . Plays an important role in retinal vascular development. Under hyperoxic O2 conditions, promotes retinal angiogenesis and capillary morphogenesis, likely by metabolizing the oxygenated products generated during the oxidative stress. Also, contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression (By similarity).
FAM161A
Protein FAM161A Q3B820 FUNCTION: Involved in ciliogenesis. Note=Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium.
DSCR9
Down syndrome critical region protein 9 P59020
CNR2
Cannabinoid receptor 2 (CB-2) (CB2) (hCB2) (CX5) P34972 FUNCTION: Heterotrimeric G protein-coupled receptor for endocannabinoid 2-arachidonoylglycerol mediating inhibition of adenylate cyclase. May function in inflammatory response, nociceptive transmission and bone homeostasis.
ATF3
Cyclic AMP-dependent transcription factor ATF-3 (cAMP-dependent transcription factor ATF-3) (Activating transcription factor 3) P18847 FUNCTION: This protein binds the cAMP response element (CRE) (consensus: 5’-GTGACGT[AC][AG]-3’), a sequence present in many viral and cellular promoters. Represses transcription from promoters with ATF sites. It may repress transcription by stabilizing the binding of inhibitory cofactors at the promoter. Isoform 2 activates transcription presumably by sequestering inhibitory cofactors away from the promoters. SUBCELLULAR LOCATION: Nucleus .
CYP20A1
Cytochrome P450 20A1 (EC 1.14.-) Q6UW02 SUBCELLULAR LOCATION: Membrane .
CNTN3
Contactin-3 (Brain-derived immunoglobulin superfamily protein 1) (BIG-1) (Plasmacytoma-associated neuronal glycoprotein) Q9P232 FUNCTION: Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity (By similarity).
BFSP2
Phakinin (49 kDa cytoskeletal protein) (Beaded filament structural protein 2) (Lens fiber cell beaded filament protein CP 47) (CP47) (Lens fiber cell beaded filament protein CP 49) (CP49) (Lens intermediate filament-like light) (LIFL-L) Q13515 FUNCTION: Required for the correct formation and organization of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA.
CH25H
Cholesterol 25-hydroxylase (EC 1.14.99.38) (Cholesterol 25-monooxygenase) (h25OH) O95992 FUNCTION: Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes . Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing. In testis, production of 25-hydroxycholesterol by macrophages may play a role in Leydig cell differentiation.
CYP2B6
Cytochrome P450 2B6 (EC 1.14.13.-) (1,4-cineole 2-exo-monooxygenase) (CYPIIB6) (Cytochrome P450 IIB1) P20813 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of endocannabinoids 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 arachidonoylethanolamide (anandamide) to 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling . Hydroxylates steroid hormones, including testosterone at C-16 and estrogens at C-2 (, ). Plays a role in the oxidative metabolism of xenobiotics, including plant lipids and drugs (, ). Acts as a 1,4-cineole 2-exo-monooxygenase . SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
CNTN4
Contactin-4 (Brain-derived immunoglobulin superfamily protein 2) (BIG-2) Q8IWV2 FUNCTION: Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis. SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. Secreted .
FH
Fumarate hydratase, mitochondrial (Fumarase) (HsFH) (EC 4.1.2) P07954 FUNCTION: Catalyzes the reversible stereospecific interconversion of fumarate to L-malate . Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other (Probable).
CNTNAP1
Contactin-associated protein 1 (Caspr) (Caspr1) (Neurexin IV) (Neurexin-4) (p190) P78357 FUNCTION: Required, with CNTNAP2, 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 paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.
FMO6P
Putative dimethylaniline monooxygenase [N-oxide-forming] 6 (EC 1.14.13.8) (Dimethylaniline oxidase 6) (Flavin-containing monooxygenase 6) (FMO 6) O60774 FUNCTION: It is probable that this protein is only produced in very small quantity or not at all as the gene coding for it seems to be unable to produce full-length transcripts. SUBCELLULAR LOCATION: Microsome membrane .
CYP2C18
Cytochrome P450 2C18 (EC 1.14.14.1) (CYPIIC18) (Cytochrome P450-6b/29c) P33260 FUNCTION: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
FMOD
Fibromodulin (FM) (Collagen-binding 59 kDa protein) (Keratan sulfate proteoglycan fibromodulin) (KSPG fibromodulin) Q06828 FUNCTION: Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis (By similarity). SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
CNTNAP5
Contactin-associated protein-like 5 (Cell recognition molecule Caspr5) Q8WYK1 FUNCTION: May play a role in the correct development and proper functioning of the peripheral and central nervous system and be involved in cell adhesion and intercellular communication. SUBCELLULAR LOCATION: Membrane .
CNTRL
Centriolin (Centrosomal protein 1) (Centrosomal protein of 110 kDa) (Cep110) Q7Z7A1 FUNCTION: Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission.
LINC00597
Putative uncharacterized protein encoded by LINC00597 Q9H2U6
CYP2D7
Putative cytochrome P450 2D7 (EC 1.14.14.1) A0A087X1C5 FUNCTION: May be responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It may be involved in the metabolism of codeine to morphine . However, another study could not confirm it .
CYP2E1
Cytochrome P450 2E1 (EC 1.14.14.1) (4-nitrophenol 2-hydroxylase) (EC 1.14.13.n7) (CYPIIE1) (Cytochrome P450-J) P05181 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of fatty acids (, ). 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 fatty acids specifically at the omega-1 position displaying the highest catalytic activity for saturated fatty acids (, ). May be involved in the oxidative metabolism of xenobiotics (Probable).
C15orf62
Uncharacterized protein C15orf62, mitochondrial A8K5M9 SUBCELLULAR LOCATION: Mitochondrion .
FUNDC1
FUN14 domain-containing protein 1 Q8IVP5 FUNCTION: Acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality control.
CIZ1
Cip1-interacting zinc finger protein (CDKN1A-interacting zinc finger protein 1) (Nuclear protein NP94) (Zinc finger protein 356) Q9ULV3 FUNCTION: May regulate the subcellular localization of CIP/WAF1. SUBCELLULAR LOCATION: Nucleus.
C15orf65
Uncharacterized protein C15orf65 H3BRN8
CYP2J2
Cytochrome P450 2J2 (EC 1.14.14.-) (Albendazole monooxygenase (hydroxylating)) (EC 1.14.14.74) (Albendazole monooxygenase (sulfoxide-forming)) (EC 1.14.14.73) (Arachidonic acid epoxygenase) (CYPIIJ2) (Hydroperoxy icosatetraenoate isomerase) (EC 5.4.7) P51589 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) in the cardiovascular system (, ). 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 PUFA (, ). Converts arachidonic acid to four regioisomeric epoxyeicosatrienoic acids (EpETrE), likely playing a major role in the epoxidation of endogenous cardiac arachidonic acid pools . In endothelial cells, participates in eicosanoids metabolism by converting hydroperoxide species into hydroxy epoxy metabolites. In combination with 15-lipoxygenase metabolizes arachidonic acid and converts hydroperoxyicosatetraenoates (HpETEs) into hydroxy epoxy eicosatrienoates (HEETs), which are precursors of vasodilatory trihydroxyicosatrienoic acids (THETAs). This hydroperoxide isomerase activity is NADPH- and O2-independent . Catalyzes the monooxygenation of a various xenobiotics, such as danazol, amiodarone, terfenadine, astemizole, thioridazine, tamoxifen, cyclosporin A and nabumetone . Catalyzes hydroxylation of the anthelmintics albendazole and fenbendazole . Catalyzes the sulfoxidation of fenbedazole . ; Peripheral membrane protein.
FUNDC2
FUN14 domain-containing protein 2 (Cervical cancer proto-oncogene 3 protein) (HCC-3) (Hepatitis C virus core-binding protein 6) Q9BWH2
C10orf82
Uncharacterized protein C10orf82 Q8WW14
C10orf113
Putative uncharacterized protein C10orf113 Q5VZT2
LINC01561
Uncharacterized protein encoded by LINC01561 Q8N1V8
C10orf143
Uncharacterized protein C10orf143 A0A1B0GUT2
C11orf1
UPF0686 protein C11orf1 Q9H5F2 SUBCELLULAR LOCATION: Nucleus .
CYP2U1
Cytochrome P450 2U1 (EC 1.14.14.1) Q7Z449 FUNCTION: Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes.
C11orf45
Putative uncharacterized protein C11orf45 Q8TAV5 SUBCELLULAR LOCATION: Secreted .
C11orf49
UPF0705 protein C11orf49 Q9H6J7
C11orf44
Uncharacterized protein C11orf44 Q8N8P7 SUBCELLULAR LOCATION: Secreted .
C11orf53
Uncharacterized protein C11orf53 Q8IXP5
FURIN
Furin (EC 3.21.75) (Dibasic-processing enzyme) (Paired basic amino acid residue-cleaving enzyme) (PACE) P09958 FUNCTION: Ubiquitous endoprotease within constitutive secretory pathways capable of cleavage at the RX(K/R)R consensus motif (, , , , , , , , ). Mediates processing of TGFB1, an essential step in TGF-beta-1 activation .
CYP39A1
24-hydroxycholesterol 7-alpha-hydroxylase (EC 1.14.14.26) (Cytochrome P450 39A1) (hCYP39A1) (Oxysterol 7-alpha-hydroxylase) Q9NYL5 FUNCTION: Involved in the bile acid metabolism. Has a preference for 24-hydroxycholesterol, and converts it into a 7-alpha-hydroxylated product. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
C11orf74
Protein C11orf74 (Protein HEPIS) Q86VG3 FUNCTION: Seems to play a role in ciliary BBSome localization, maybe through interaction with IFT-A complex.
CYP3A4
Cytochrome P450 3A4 (EC 1.14.14.1) (1,4-cineole 2-exo-monooxygenase) (1,8-cineole 2-exo-monooxygenase) (EC 1.14.14.56) (Albendazole monooxygenase (sulfoxide-forming)) (EC 1.14.14.73) (Albendazole sulfoxidase) (CYPIIIA3) (CYPIIIA4) (Cholesterol 25-hydroxylase) (Cytochrome P450 3A3) (Cytochrome P450 HLp) (Cytochrome P450 NF-25) (Cytochrome P450-PCN1) (Nifedipine oxidase) (Quinine 3-monooxygenase) (EC 1.14.14.55) P08684 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of sterols, steroid hormones, retinoids and fatty acids (, , , , , , , , , , ). 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 hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E2, as well as D-ring hydroxylated E1 and E2 at the C-16 position (, , ). Plays a role in the metabolism of androgens, particularly in oxidative deactivation of testosterone (, , , ). Metabolizes testosterone to less biologically active 2beta- and 6beta-hydroxytestosterones (, , ). Contributes to the formation of hydroxycholesterols (oxysterols), particularly A-ring hydroxylated cholesterol at the C-4beta position, and side chain hydroxylated cholesterol at the C-25 position, likely contributing to cholesterol degradation and bile acid biosynthesis . Catalyzes bisallylic hydroxylation of polyunsaturated fatty acids (PUFA) . Catalyzes the epoxidation of double bonds of PUFA with a preference for the last double bond . Metabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling . Plays a role in the metabolism of retinoids. Displays high catalytic activity for oxidation of all-trans-retinol to all-trans-retinal, a rate-limiting step for the biosynthesis of all-trans-retinoic acid (atRA) . Further metabolizes atRA toward 4-hydroxyretinoate and may play a role in hepatic atRA clearance . Responsible for oxidative metabolism of xenobiotics. Acts as a 2-exo-monooxygenase for plant lipid 1,8-cineole (eucalyptol) . Metabolizes the majority of the administered drugs. Catalyzes sulfoxidation of the anthelmintics albendazole and fenbendazole . Hydroxylates antimalarial drug quinine . Acts as a 1,4-cineole 2-exo-monooxygenase . ; Single-pass membrane protein.
C11orf91
Uncharacterized protein C11orf91 Q3C1V1
C11orf88
UPF0722 protein C11orf88 Q6PI97
CYSLTR1
Cysteinyl leukotriene receptor 1 (CysLTR1) (Cysteinyl leukotriene D4 receptor) (LTD4 receptor) (G-protein coupled receptor HG55) (HMTMF81) Q9Y271 FUNCTION: Receptor for cysteinyl leukotrienes mediating bronchoconstriction of individuals with and without asthma. Stimulation by LTD4 results in the contraction and proliferation of smooth muscle, edema, eosinophil migration and damage to the mucus layer in the lung. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTD4 >> LTE4 = LTC4 >> LTB4. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
FMR1NB
Fragile X mental retardation 1 neighbor protein (Cancer/testis antigen 37) (CT37) (Sarcoma antigen NY-SAR-35) Q8N0W7 SUBCELLULAR LOCATION: Membrane .
CYP3A7
Cytochrome P450 3A7 (EC 1.14.14.1) (CYPIIIA7) (Cytochrome P450-HFLA) (P450HLp2) P24462 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of steroid hormones and vitamins during embryogenesis (, , , , ). 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. Metabolizes 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone, DHEA), a precursor in the biosynthesis of androgen and estrogen steroid hormones (, ). Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1), particularly D-ring hydroxylated estrone at the C16-alpha position (, ). Mainly hydroxylates all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may play a role in atRA clearance during fetal development . Also involved in the oxidative metabolism of xenobiotics including anticonvulsants . ; Peripheral membrane protein.
COL1A2
Collagen alpha-2(I) chain (Alpha-2 type I collagen) P08123 FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen). SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix .
DDR2
Discoidin domain-containing receptor 2 (Discoidin domain receptor 2) (EC 2.10.1) (CD167 antigen-like family member B) (Discoidin domain-containing receptor tyrosine kinase 2) (Neurotrophic tyrosine kinase, receptor-related 3) (Receptor protein-tyrosine kinase TKT) (Tyrosine-protein kinase TYRO10) (CD antigen CD167b) Q16832 FUNCTION: Tyrosine kinase involved in the regulation of tissues remodeling . It functions as cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up-regulation of the collagenases MMP1, MMP2 and MMP13, and thereby facilitates cell migration and tumor cell invasion. Promotes fibroblast migration and proliferation, and thereby contributes to cutaneous wound healing.
CAMK2N2
Calcium/calmodulin-dependent protein kinase II inhibitor 2 (CaM-KII inhibitory protein) (CaM-KIIN) Q96S95 FUNCTION: Potent and specific cellular inhibitor of CaM-kinase II (CAMK2). Traps Ca(2+)/calmodulin on CAMK2. May play an important role in the regulation of cell growth when overexpressed in colon adenocarcinoma LoVo cells. Traps Ca(2+)/calmodulin on CAMK2.
CAMK2N1
Calcium/calmodulin-dependent protein kinase II inhibitor 1 (CaMKII inhibitory protein alpha) (CaMKIIN-alpha) Q7Z7J9 FUNCTION: Potent and specific inhibitor of CaM-kinase II (CAMK2).
GLB1
Beta-galactosidase (EC 3.1.23) (Acid beta-galactosidase) (Lactase) (Elastin receptor 1) P16278 FUNCTION: [Isoform 1]: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.
CYP46A1
Cholesterol 24-hydroxylase (CH24H) (EC 1.14.14.25) (Cholesterol 24-monooxygenase) (Cholesterol 24S-hydroxylase) (Cytochrome P450 46A1) Q9Y6A2 FUNCTION: P450 monooxygenase that plays a major role in cholesterol homeostasis in the brain. Primarily catalyzes the hydroxylation (with S stereochemistry) at C-24 of cholesterol side chain, triggering cholesterol diffusion out of neurons and its further degradation (, , , ). By promoting constant cholesterol elimination in neurons, may activate the mevalonate pathway and coordinate the synthesis of new cholesterol and nonsterol isoprenoids involved in synaptic activity and learning (By similarity). Further hydroxylates cholesterol derivatives and hormone steroids on both the ring and side chain of these molecules, converting them into active oxysterols involved in lipid signaling and biosynthesis (, , ). Acts as an epoxidase converting cholesta-5,24-dien-3beta-ol/desmosterol into (24S),25-epoxycholesterol, an abundant lipid ligand of nuclear NR1H2 and NR1H3 receptors shown to promote neurogenesis in developing brain . May also catalyze the oxidative metabolism of xenobiotics, such as clotrimazole .
CDK5RAP1
CDK5 regulatory subunit-associated protein 1 (CDK5 activator-binding protein C42) Q96SZ6 FUNCTION: Specifically inhibits CDK5 activation by CDK5R1.
CLUHP3
Putative protein CLUHP3 (Clustered mitochondria (cluA/CLU1) homolog pseudogene 3) (KIAA0664-like protein 3) Q96NS8
CYP4A11
Cytochrome P450 4A11 (EC 1.14.14.1) (20-hydroxyeicosatetraenoic acid synthase) (20-HETE synthase) (CYP4AII) (CYPIVA11) (Cytochrome P-450HK-omega) (Cytochrome P450HL-omega) (Fatty acid omega-hydroxylase) (Lauric acid omega-hydroxylase) (Long-chain fatty acid omega-monooxygenase) (EC 1.14.14.80) Q02928 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of 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) (, , , , , ). Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of saturated and unsaturated fatty acids, the catalytic efficiency decreasing in the following order: dodecanoic > tetradecanoic > (9Z)-octadecenoic > (9Z,12Z)-octadecadienoic > hexadecanoic acid (, ). Acts as a major omega-hydroxylase for dodecanoic (lauric) acid in liver (, , , ). Participates in omega-hydroxylation of (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) to 20-hydroxyeicosatetraenoic acid (20-HETE), a signaling molecule acting both as vasoconstrictive and natriuretic with overall effect on arterial blood pressure (, , ). Can also catalyze the oxidation of the penultimate carbon (omega-1 oxidation) of fatty acids with lower efficiency . May contribute to the degradation of saturated very long-chain fatty acids (VLCFAs) such as docosanoic acid, by catalyzing successive omega-oxidations to the corresponding dicarboxylic acid, thereby initiating chain shortening . Omega-hydroxylates (9R,10S)-epoxy-octadecanoate stereoisomer . Plays a minor role in omega-oxidation of long-chain 3-hydroxy fatty acids . Has little activity toward prostaglandins A1 and E1 .
CLU
Clusterin (Aging-associated gene 4 protein) (Apolipoprotein J) (Apo-J) (Complement cytolysis inhibitor) (CLI) (Complement-associated protein SP-40,40) (Ku70-binding protein 1) (NA1/NA2) (Sulfated glycoprotein 2) (SGP-2) (Testosterone-repressed prostate message 2) (TRPM-2) [Cleaved into: Clusterin beta chain (ApoJalpha) (Complement cytolysis inhibitor a chain); Clusterin alpha chain (ApoJbeta) (Complement cytolysis inhibitor b chain)] P10909 FUNCTION: [Isoform 1]: Functions as extracellular chaperone that prevents aggregation of non native proteins (, ). Prevents stress-induced aggregation of blood plasma proteins (, , , ). Inhibits formation of amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA and aggregation-prone LYZ variants (in vitro) (, , ). Does not require ATP . Maintains partially unfolded proteins in a state appropriate for subsequent refolding by other chaperones, such as HSPA8/HSC70 . Does not refold proteins by itself . Binding to cell surface receptors triggers internalization of the chaperone-client complex and subsequent lysosomal or proteasomal degradation . Protects cells against apoptosis and against cytolysis by complement . Intracellular forms interact with ubiquitin and SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes and promote the ubiquitination and subsequent proteasomal degradation of target proteins . Promotes proteasomal degradation of COMMD1 and IKBKB . Modulates NF-kappa-B transcriptional activity . A mitochondrial form suppresses BAX-dependent release of cytochrome c into the cytoplasm and inhibit apoptosis (, ). Plays a role in the regulation of cell proliferation . An intracellular form suppresses stress-induced apoptosis by stabilizing mitochondrial membrane integrity through interaction with HSPA5 . Secreted form does not affect caspase or BAX-mediated intrinsic apoptosis and TNF-induced NF-kappa-B-activity . Secreted form act as an important modulator during neuronal differentiation through interaction with STMN3 (By similarity). Plays a role in the clearance of immune complexes that arise during cell injury (By similarity).
CKAP4
Cytoskeleton-associated protein 4 (63-kDa cytoskeleton-linking membrane protein) (Climp-63) (p63) Q07065 FUNCTION: High-affinity epithelial cell surface receptor for APF.; FUNCTION: Mediates the anchoring of the endoplasmic reticulum to microtubules. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Cell membrane; Single-pass type II membrane protein. Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Note=Translocates to the perinuclear region upon APF-stimulation.
CKAP5
Cytoskeleton-associated protein 5 (Colonic and hepatic tumor overexpressed gene protein) (Ch-TOG) Q14008 FUNCTION: Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Acts as processive microtubule polymerase. Promotes cytoplasmic microtubule nucleation and elongation. Plays a major role in organizing spindle poles. In spindle formation protects kinetochore microtubules from depolymerization by KIF2C and has an essential role in centrosomal microtubule assembly independently of KIF2C activity. Contributes to centrosome integrity. 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. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension . Enhances the strength of NDC80 complex-mediated kinetochore-tip microtubule attachments .
TGFBI
Transforming growth factor-beta-induced protein ig-h3 (Beta ig-h3) (Kerato-epithelin) (RGD-containing collagen-associated protein) (RGD-CAP) Q15582 FUNCTION: Plays a role in cell adhesion . May play a role in cell-collagen interactions (By similarity).
CMTM2
CKLF-like MARVEL transmembrane domain-containing protein 2 (Chemokine-like factor superfamily member 2) Q8TAZ6 SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CKLF
Chemokine-like factor (C32) Q9UBR5 FUNCTION: May play an important role in inflammation and regeneration of skeletal muscle. Partly inhibited by interleukin 10.
CMTM7
CKLF-like MARVEL transmembrane domain-containing protein 7 (Chemokine-like factor superfamily member 7) Q96FZ5 SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
C4B; C4B_2
Complement C4-B (Basic complement C4) (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3) [Cleaved into: Complement C4 beta chain; Complement C4-B alpha chain; C4a anaphylatoxin; C4b-B; C4d-B; Complement C4 gamma chain] P0C0L5 FUNCTION: Non-enzymatic component of the 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 .
COL4A6
Collagen alpha-6(IV) chain Q14031 FUNCTION: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ‘chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
CYP7A1
Cytochrome P450 7A1 (24-hydroxycholesterol 7-alpha-hydroxylase) (EC 1.14.14.26) (CYPVII) (Cholesterol 7-alpha-hydroxylase) (Cholesterol 7-alpha-monooxygenase) (EC 1.14.14.23) P22680 FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) (, , , , ). 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) (, , , , ). Functions as a critical regulatory enzyme of bile acid biosynthesis and cholesterol homeostasis. Catalyzes the hydroxylation of carbon hydrogen bond at 7-alpha position of cholesterol, a rate-limiting step in cholesterol catabolism and bile acid biosynthesis (, , ). 7-alpha hydroxylates several oxysterols, including 4beta-hydroxycholesterol and 24-hydroxycholesterol (, ). Catalyzes the oxidation of the 7,8 double bond of 7-dehydrocholesterol and lathosterol with direct and predominant formation of the 7-keto derivatives .
C12orf60
Uncharacterized protein C12orf60 Q5U649
COL6A5
Collagen alpha-5(VI) chain (Collagen alpha-1(XXIX) chain) (von Willebrand factor A domain-containing protein 4) A8TX70 FUNCTION: Collagen VI acts as a cell-binding protein.
AQP12B
Aquaporin-12B (AQP-12B) A6NM10 FUNCTION: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes.
CLEC18B
C-type lectin domain family 18 member B (Mannose receptor-like protein 1) Q6UXF7 FUNCTION: Binds polysaccharides in a Ca(2+)-independent manner (By similarity).
CPEB3
Cytoplasmic polyadenylation element-binding protein 3 (CPE-BP3) (CPE-binding protein 3) (hCPEB-3) Q8NE35 FUNCTION: Sequence-specific RNA-binding protein which acts as a translational repressor in the basal unstimulated state but, following neuronal stimulation, acts as a translational activator (By similarity). In contrast to CPEB1, does not bind to the cytoplasmic polyadenylation element (CPE), a uridine-rich sequence element within the mRNA 3’-UTR, but binds to a U-rich loop within a stem-loop structure (By similarity). Required for the consolidation and maintenance of hippocampal-based long term memory (By similarity). In the basal state, binds to the mRNA 3’-UTR of the glutamate receptors GRIA2/GLUR2 mRNA and negatively regulates their translation (By similarity). Also represses the translation of DLG4, GRIN1, GRIN2A and GRIN2B (By similarity). When activated, acts as a translational activator of GRIA1 and GRIA2 (By similarity). In the basal state, suppresses SUMO2 translation but activates it following neuronal stimulation (By similarity). Binds to the 3’-UTR of TRPV1 mRNA and represses TRPV1 translation which is required to maintain normal thermoception (By similarity). Binds actin mRNA, leading to actin translational repression in the basal state and to translational activation following neuronal stimulation (By similarity). Negatively regulates target mRNA levels by binding to TOB1 which recruits CNOT7/CAF1 to a ternary complex and this leads to target mRNA deadenylation and decay . In addition to its role in translation, binds to and inhibits the transcriptional activation activity of STAT5B without affecting its dimerization or DNA-binding activity. This, in turn, represses transcription of the STAT5B target gene EGFR which has been shown to play a role in enhancing learning and memory performance . In contrast to CPEB1, CPEB2 and CPEB4, not required for cell cycle progression .
C8A
Complement component C8 alpha chain (Complement component 8 subunit alpha) P07357 FUNCTION: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself. SUBCELLULAR LOCATION: Secreted. Cell membrane; Multi-pass membrane protein. Note=Secreted as soluble protein. Inserts into the cell membrane of target cells.
AQP2
Aquaporin-2 (AQP-2) (ADH water channel) (Aquaporin-CD) (AQP-CD) (Collecting duct water channel protein) (WCH-CD) (Water channel protein for renal collecting duct) P41181 FUNCTION: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (, , , ). Plays an essential role in renal water homeostasis (, , ).
AQP9
Aquaporin-9 (AQP-9) (Aquaglyceroporin-9) (Small solute channel 1) O43315 FUNCTION: Forms a water channel with a broad specificity. Also permeable glycerol and urea. Mediates passage of a wide variety of small, non-charged solutes including carbamides, polyols, purines, and pyrimidines.
FOXO3B
Forkhead box protein O3B A0A2Z4LIS9 SUBCELLULAR LOCATION: Cytoplasm, cytosol .
CLEC1A
C-type lectin domain family 1 member A (C-type lectin-like receptor 1) (CLEC-1) Q8NC01 SUBCELLULAR LOCATION: Membrane .
CLEC11A
C-type lectin domain family 11 member A (C-type lectin superfamily member 3) (Lymphocyte secreted C-type lectin) (Osteolectin) (Stem cell growth factor) (p47) Q9Y240 FUNCTION: Promotes osteogenesis by stimulating the differentiation of mesenchymal progenitors into mature osteoblasts . Important for repair and maintenance of adult bone (By similarity).
CPLANE1
Ciliogenesis and planar polarity effector 1 (Protein JBTS17) Q9H799 FUNCTION: Involved in ciliogenesis . Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (By similarity).
CLEC2A
C-type lectin domain family 2 member A (Keratinocyte-associated C-type lectin) (KACL) (Proliferation-induced lymphocyte-associated receptor) (PILAR) Q6UVW9 FUNCTION: Plays a role in modulating the extent of T-cell expansion. Enhances the expansion of TCR-stimulated T-cells by increasing their survival through enhanced expression of anti-apoptotic proteins. May modulate the capacity of T-cells to home to lymph nodes through SELL. Facilitates dedicated immune recognition of keratinocytes via interaction with its receptor KLRF2 by stimulating natural killer cell mediated cytotoxicity.
CLEC6A
C-type lectin domain family 6 member A (C-type lectin superfamily member 10) (Dendritic cell-associated C-type lectin 2) (DC-associated C-type lectin 2) (Dectin-2) Q6EIG7 FUNCTION: Binds high-mannose carbohydrates in a Ca(2+)-dependent manner . Functional receptor for alpha-mannans on C.albicans hypheas. Plays an important role in the host defense against C.albicans infection by inducing TH17 cell differentiation. Recognizes also, in a mannose-dependent manner, allergens from house dust mite and fungi, by promoting cysteinyl leukotriene production. Recognizes soluble elements from the eggs of Shistosoma mansoni altering adaptive immune responses. Transduces signals through an Fc receptor gamma chain /FCER1G and Syk-CARD9-NF-kappa-B-dependent pathway (By similarity).
CLCA2
Calcium-activated chloride channel regulator 2 (EC 3.-.-) (Calcium-activated chloride channel family member 2) (hCLCA2) (Calcium-activated chloride channel protein 3) (CaCC-3) (hCaCC-3) [Cleaved into: Calcium-activated chloride channel regulator 2, 109 kDa form; Calcium-activated chloride channel regulator 2, 35 kDa form] Q9UQC9 FUNCTION: Plays a role in modulating chloride current across the plasma membrane in a calcium-dependent manner, and cell adhesion. Involved in basal cell adhesion and/or stratification of squamous epithelia. May act as a tumor suppressor in breast and colorectal cancer. Plays a key role for cell adhesion in the beginning stages of lung metastasis via the binding to ITGB4. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Basal cell membrane; Single-pass type I membrane protein. Cell junction.; SUBCELLULAR LOCATION: [Calcium-activated chloride channel regulator 2, 109 kDa form]: Secreted. Note=Remains associated to the 35 kDa form until an unidentified event triggers the release.
CHAC1
Glutathione-specific gamma-glutamylcyclotransferase 1 (Gamma-GCG 1) (EC 4.2.7) (Blocks Notch protein) (Botch) (Cation transport regulator-like protein 1) Q9BUX1 FUNCTION: Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides . Glutathione depletion is an important factor for apoptosis initiation and execution. Acts as a pro-apoptotic component of the unfolded protein response pathway by mediating the pro-apoptotic effects of the ATF4-ATF3-DDIT3/CHOP cascade . Negative regulator of Notch signaling pathway involved in embryonic neurogenesis: acts by inhibiting Notch cleavage by furin, maintaining Notch in an immature inactive form, thereby promoting neurogenesis in embryos .
AMELY
Amelogenin, Y isoform Q99218 FUNCTION: Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
CHCHD1
Coiled-coil-helix-coiled-coil-helix domain-containing protein 1 (28S ribosomal protein S37, mitochondrial) (MRP-S37) (Mitochondrial small ribosomal subunit protein mS37) (Nuclear protein C2360) Q96BP2 SUBCELLULAR LOCATION: Mitochondrion .
DTHD1
Death domain-containing protein 1 Q6ZMT9
CPXM1
Probable carboxypeptidase X1 (EC 3.17.-) (Metallocarboxypeptidase CPX-1) Q96SM3 FUNCTION: May be involved in cell-cell interactions. No carboxypeptidase activity was found yet (By similarity).
ACAD11
Acyl-CoA dehydrogenase family member 11 (ACAD-11) (EC 1.8.-) Q709F0 FUNCTION: Acyl-CoA dehydrogenase, that exhibits maximal activity towards saturated C22-CoA . Probably participates to beta-oxydation and energy production but could also play role in the metabolism of specific fatty acids to control fatty acids composition of cellular lipids in brain (Probable).
FKBP5
Peptidyl-prolyl cis-trans isomerase FKBP5 (PPIase FKBP5) (EC 5.1.8) (51 kDa FK506-binding protein) (51 kDa FKBP) (FKBP-51) (54 kDa progesterone receptor-associated immunophilin) (Androgen-regulated protein 6) (FF1 antigen) (FK506-binding protein 5) (FKBP-5) (FKBP54) (p54) (HSP90-binding immunophilin) (Rotamase) Q13451 FUNCTION: Immunophilin protein with PPIase and co-chaperone activities . Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). Plays a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors maintaining the complex into the cytoplasm when unliganded . Acts as a regulator of Akt/AKT1 activity by promoting the interaction between Akt/AKT1 and PHLPP1, thereby enhancing dephosphorylation and subsequent activation of Akt/AKT1 .
ATP5MPL
ATP synthase subunit ATP5MPL, mitochondrial (6.8 kDa mitochondrial proteolipid protein) (MLQ) (ATP synthase membrane subunit 6.8PL) P56378 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 (Probable). Minor subunit required to maintain the ATP synthase population in the mitochondria .
CRAD
Cancer-related regulator of actin dynamics Q6ZU35 FUNCTION: Involved in epithelial cell integrity by acting on the maintenance of the actin cytoskeleton. Positively regulates the actin polymerization, by inhibiting the interaction of actin-capping proteins with actin.
ANKRD36BP1
Putative ankyrin repeat domain-containing protein 26-like 1 (Ankyrin repeat domain-containing protein 36B pseudogene 1) Q96IX9
FAIM
Fas apoptotic inhibitory molecule 1 Q9NVQ4 FUNCTION: Plays a role as an inducible effector molecule that mediates Fas resistance produced by surface Ig engagement in B cells.
MT-ATP6
ATP synthase subunit a (F-ATPase protein 6) P00846 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. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
CHRNA3
Neuronal acetylcholine receptor subunit alpha-3 P32297 FUNCTION: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
CHID1
Chitinase domain-containing protein 1 (Stabilin-1-interacting chitinase-like protein) (SI-CLP) Q9BWS9 FUNCTION: Saccharide- and LPS-binding protein with possible roles in pathogen sensing and endotoxin neutralization. Ligand-binding specificity relates to the length of the oligosaccharides, with preference for chitotetraose (in vitro).
GPR137
Integral membrane protein GPR137 (Transmembrane 7 superfamily member 1-like 1 protein) Q96N19 SUBCELLULAR LOCATION: Membrane .
ADORA3
Adenosine receptor A3 P0DMS8 FUNCTION: [Isoform 2]: Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase .
SS18L1
Calcium-responsive transactivator (SS18-like protein 1) (SYT homolog 1) O75177 FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity).
YWHAE
14-3-3 protein epsilon (14-3-3E) P62258 FUNCTION: Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm .
ACTL6A
Actin-like protein 6A (53 kDa BRG1-associated factor A) (Actin-related protein Baf53a) (ArpNbeta) (BRG1-associated factor 53A) (BAF53A) (INO80 complex subunit K) O96019 FUNCTION: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
CHRM1
Muscarinic acetylcholine receptor M1 P11229 FUNCTION: The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.
PPP2R5D
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PP2A B subunit isoform B’-delta) (PP2A B subunit isoform B56-delta) (PP2A B subunit isoform PR61-delta) (PP2A B subunit isoform R5-delta) Q14738 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. Nucleus. Note=Nuclear in interphase, nuclear during mitosis.
PRKAG1
5’-AMP-activated protein kinase subunit gamma-1 (AMPK gamma1) (AMPK subunit gamma-1) (AMPKg) P54619 FUNCTION: AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive.
ACSL4
Long-chain-fatty-acid–CoA ligase 4 (EC 6.1.3) (Arachidonate–CoA ligase) (EC 6.1.15) (Long-chain acyl-CoA synthetase 4) (LACS 4) O60488 FUNCTION: Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (, , ). Preferentially activates arachidonate and eicosapentaenoate as substrates . Preferentially activates 8,9-EET > 14,15-EET > 5,6-EET > 11,12-EET. Modulates glucose-stimulated insulin secretion by regulating the levels of unesterified EETs (By similarity). Modulates prostaglandin E2 secretion .
ANKRD34C
Ankyrin repeat domain-containing protein 34C P0C6C1
ANAPC2
Anaphase-promoting complex subunit 2 (APC2) (Cyclosome subunit 2) Q9UJX6 FUNCTION: Together with the RING-H2 protein ANAPC11, constitutes the catalytic 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. The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. CDC20-APC/C-induced degradation of NEUROD2 drives presynaptic differentiation.
ACTB
Actin, cytoplasmic 1 (Beta-actin) [Cleaved into: Actin, cytoplasmic 1, N-terminally processed] P60709 FUNCTION: Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells . Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction . In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA .
ACTN4
Alpha-actinin-4 (Non-muscle alpha-actinin 4) O43707 FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation . Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA .
ANGPTL4
Angiopoietin-related protein 4 (Angiopoietin-like protein 4) (Hepatic fibrinogen/angiopoietin-related protein) (HFARP) [Cleaved into: ANGPTL4 N-terminal chain; ANGPTL4 C-terminal chain] Q9BY76 FUNCTION: Mediates inactivation of the lipoprotein lipase LPL, and thereby plays a role in the regulation of triglyceride clearance from the blood serum and in lipid metabolism (, , , ). May also play a role in regulating glucose homeostasis and insulin sensitivity (Probable). Inhibits proliferation, migration, and tubule formation of endothelial cells and reduces vascular leakage (, ). Upon heterologous expression, inhibits the adhesion of endothelial cell to the extracellular matrix (ECM), and inhibits the reorganization of the actin cytoskeleton, formation of actin stress fibers and focal adhesions in endothelial cells that have adhered to ANGPTL4-containing ECM (in vitro) . Depending on context, may modulate tumor-related angiogenesis (By similarity).
ABHD12B
Protein ABHD12B (EC 3.-.-) (Abhydrolase domain-containing protein 12B) (Alpha/beta hydrolase domain-containing protein 12B) Q7Z5M8
CTSZ
Cathepsin Z (EC 3.18.1) (Cathepsin P) (Cathepsin X) Q9UBR2 FUNCTION: Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity . Capable of producing kinin potentiating peptides (By similarity). SUBCELLULAR LOCATION: Lysosome.
AKAP10
A-kinase anchor protein 10, mitochondrial (AKAP-10) (Dual specificity A kinase-anchoring protein 2) (D-AKAP-2) (Protein kinase A-anchoring protein 10) (PRKA10) O43572 FUNCTION: Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity). Note=Predominantly mitochondrial but also membrane associated and cytoplasmic.
