| - |
- |
|
|
May be involved in intracellular vesicle traffic and potentially in calcium-dependent exocytosis in neuroendocrine cells.
|
View
|
| KLK8 |
- |
|
|
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in …
|
View
|
| TPH2 |
- |
|
|
Tryptophan hydroxylase (TPH; EC 1.14.16.4) is the rate-limiting enzyme in the synthesis of serotonin (5-hydroxytryptamine, or 5HT). 5HT is causally …
|
View
|
| CBPIN |
- |
|
|
This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell …
|
View
|
| UTP14A |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| JPH2 |
- |
|
|
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate …
|
View
|
| GAS2L2 |
- |
|
|
-
|
View
|
| BRAP |
- |
|
|
The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 …
|
View
|
| MCM3APAS |
- |
|
|
-
|
View
|
| MYNN |
- |
|
|
-
|
View
|
| GGA3 |
- |
|
|
This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins …
|
View
|
| - |
- |
|
|
-
|
View
|
| SCT |
- |
|
|
Secretin belongs to the glucagon family. This protein is an endocrine hormone and its major site of production is the …
|
View
|
| TMEM22 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZFP106 |
- |
|
|
-
|
View
|
| HMGN4 |
- |
|
|
The protein encoded by this gene, a member of the HMGN protein family, is thought to reduce the compactness of …
|
View
|
| MTIF2 |
- |
|
|
During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit …
|
View
|
| - |
- |
|
|
-
|
View
|
| RNASE6 |
- |
|
|
May have a role in host defense.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| FYN |
- |
|
|
This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been …
|
View
|
| PPP2R5A |
- |
|
|
The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of …
|
View
|
| STAT1 |
- |
|
|
The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth …
|
View
|
| PPP1CB |
- |
|
|
The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is …
|
View
|
| RPL36A |
- |
|
|
Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| - |
- |
|
|
This gene encodes a regulator of the CDC7-like 1 protein, a serine-threonine kinase which links cell cycle regulation to genome …
|
View
|
| DPCR1 |
- |
|
|
-
|
View
|
| CRKL |
- |
|
|
v-CRK avian sarcoma virus CT10-homolog-like contains one SH2 domain and two SH3 domains. CRKL has been shown to activate the …
|
View
|
| PUS3 |
- |
|
|
Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| VNN2 |
- |
|
|
This gene product is a member of the Vanin family of proteins which share extensive sequence similarity with each other, …
|
View
|
| EDG8 |
- |
|
|
Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most …
|
View
|
| ZC3HAV1 |
- |
|
|
This gene encodes a CCCH-type zinc finger protein that is thought to prevent infection by retroviruses. Studies of the rat …
|
View
|
| TACR3 |
- |
|
|
This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations …
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC2A4 |
- |
|
|
Insulin-regulated facilitative glucose transporter.
|
View
|
| RIBC2 |
- |
|
|
-
|
View
|
| GPR17 |
- |
|
|
Putative receptor for purines coupled to G-proteins (By similarity).
|
View
|
| DACH1 |
- |
|
|
This gene is similar to the Drosophila melanogaster dachshund gene, which encodes a nuclear factor essential for determining cell fates …
|
View
|
| CAMK1G |
- |
|
|
This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known.
|
View
|
| KIAA1704 |
- |
|
|
-
|
View
|
| KCTD12 |
- |
|
|
-
|
View
|
| 8-Sep |
- |
|
|
SEPT8 is a member of the highly conserved septin family. Septins are 40- to 60-kD GTPases that assemble as filamentous …
|
View
|
| - |
- |
|
|
-
|
View
|
| RABAC1 |
- |
|
|
General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle docking and fusion by mediating …
|
View
|
| TMEM32 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GLT8D2 |
- |
|
|
-
|
View
|
| SEC10L1 |
- |
|
|
The protein encoded by this gene is a component of the mammalian counterpart of the yeast Exocyst complex, which is …
|
View
|
| PBX2 |
- |
|
|
This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a …
|
View
|
| UPK1B |
- |
|
|
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. …
|
View
|
| GABRD |
- |
|
|
Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are …
|
View
|
| TSPAN12 |
- |
|
|
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. …
|
View
|
| SPANXC |
- |
|
|
Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes …
|
View
|
| ZZEF1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| COL24A1 |
- |
|
|
-
|
View
|
| AMPD1 |
- |
|
|
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in …
|
View
|
| CDH23 |
- |
|
|
This gene is a member of the cadherin superfamily, genes encoding calcium dependent cell-cell adhesion glycoproteins. The protein encoded by …
|
View
|
| SEC11L3 |
- |
|
|
Part of the signal peptidase complex (SPC), exact function is not known (By similarity).
|
View
|
| GLT25D2 |
- |
|
|
-
|
View
|
| BDH |
- |
|
|
The protein encoded by this gene is a lipid-requiring mitochondrial membrane enzyme. This protein has a specific requirement of phosphatidylcholine …
|
View
|
| TGIF2LY |
- |
|
|
This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific …
|
View
|
| TNFRSF12A |
- |
|
|
Receptor for TNFSF12/TWEAK. Weak inducer of apoptosis in some cell types. Promotes angiogenesis and the proliferation of endothelial cells. May …
|
View
|
| - |
- |
|
|
Similarity to a related locus suggests that this gene encodes a subunit of RNA polymerase II, the polymerase responsible for …
|
View
|
| FGF11 |
- |
|
|
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess …
|
View
|
| - |
- |
|
|
This gene is unusual in that its coding sequence is mostly made up of L1 repeat elements. However, there is …
|
View
|
| PSMD12 |
- |
|
|
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core …
|
View
|
| QSCN6 |
- |
|
|
This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene …
|
View
|
| EPOR |
- |
|
|
The erythropoietin receptor is a member of the cytokine receptor family. Upon erythropoietin binding, the erythropoietin receptor activates Jak2 tyrosine …
|
View
|
| PRKX |
- |
|
|
-
|
View
|
| TMPRSS5 |
- |
|
|
This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in …
|
View
|
| CELSR1 |
- |
|
|
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo …
|
View
|
| MUT |
- |
|
|
MUT encodes the mitochondrial enzymne methylmalonyl Coenzyme A mutase. In humans, MUT is a vitamin B12-dependent enzyme which catalyzes the …
|
View
|
| ATP2A3 |
- |
|
|
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of …
|
View
|
| - |
- |
|
|
-
|
View
|
| PRRG4 |
- |
|
|
-
|
View
|
| SETBP1 |
- |
|
|
-
|
View
|
| GPD1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| RNF121 |
- |
|
|
The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins …
|
View
|
| - |
- |
|
|
The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in …
|
View
|
| SLC16A6 |
- |
|
|
Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo …
|
View
|
| RAB1B |
- |
|
|
Protein transport. Probably involved in vesicular traffic (By similarity).
|
View
|
| - |
- |
|
|
DISCONTINUED: LocusID 29033 was defined by AF090894.1 and NM_014115 do not appear to represent a protein coding gene.
|
View
|
| IPO9 |
- |
|
|
Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| COPZ2 |
- |
|
|
The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, …
|
View
|
| KLHL4 |
- |
|
|
This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a …
|
View
|
| GNG7 |
- |
|
|
Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and …
|
View
|
| DEPDC6 |
- |
|
|
-
|
View
|
| CUTL1 |
- |
|
|
The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate …
|
View
|
| MGAM |
- |
|
|
This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of …
|
View
|
| IL9 |
- |
|
|
The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. …
|
View
|
| SEMA3F |
- |
|
|
The semaphorins are a family of proteins that are involved in signaling. All the family members have a secretion signal, …
|
View
|
| C20orf17 |
- |
|
|
-
|
View
|
| RBM13 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC8A1 |
- |
|
|
In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) …
|
View
|
| HSDL2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF81 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| MALAT1 |
- |
|
|
-
|
View
|
| C18orf16 |
- |
|
|
-
|
View
|
| CDC42BPB |
- |
|
|
The protein encoded by this gene is a member of the Ser/Thr portein kinase family. This protein contains a Cdc42/Rac-binding …
|
View
|
| KIAA1772 |
- |
|
|
-
|
View
|
| SYCP1 |
- |
|
|
Major component of the transverse filaments of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase.
|
View
|
| DLEC1 |
- |
|
|
The DLEC1 (deleted in lung cancer-1) gene contains 37 exons, spans approximately 59-kb, and is located in the 3p22-p21.3 chromosomal …
|
View
|
| GCSH |
- |
|
|
The enzyme system for cleavage of glycine (glycine cleavage system; EC 2.1.2.10), which is confined to the mitochondria, is composed …
|
View
|
| GAA |
- |
|
|
This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of …
|
View
|
| C9orf52 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SMAD5 |
- |
|
|
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD).
|
View
|
| C21orf86 |
- |
|
|
-
|
View
|
| OR4F3 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| C7 |
- |
|
|
C7 is a component of the complement system. It participates in the formation of Membrane Attack Complex (MAC). People with …
|
View
|
| C21orf96 |
- |
|
|
-
|
View
|
| CD5 |
- |
|
|
May act as a receptor in regulating T-cell proliferation. CD5 interacts with CD72/LYB-2.
|
View
|
| - |
- |
|
|
-
|
View
|
| CYorf14 |
- |
|
|
-
|
View
|
| PTPNS1L3 |
- |
|
|
This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. …
|
View
|
| PAK1IP1 |
- |
|
|
Negatively regulates the PAK1 kinase. PAK1 is a member of the PAK kinase family, which have been shown to play …
|
View
|
| APOBEC2 |
- |
|
|
Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. …
|
View
|
| CDC25B |
- |
|
|
CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two …
|
View
|
| - |
- |
|
|
-
|
View
|
| C2orf7 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CAPNS1 |
- |
|
|
Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have been implicated in neurodegenerative processes, as their …
|
View
|
| LIPC |
- |
|
|
LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging …
|
View
|
| ADAMTS20 |
- |
|
|
May play a role in tissue-remodeling process occurring in both normal and pathological conditions.
|
View
|
| WFDC3 |
- |
|
|
This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, …
|
View
|
| FAT4 |
- |
|
|
-
|
View
|
| ZBTB8OS |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZBTB26 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| PARP11 |
- |
|
|
-
|
View
|
| PHLDA3 |
- |
|
|
-
|
View
|
| ABCD1 |
- |
|
|
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport …
|
View
|
| KLF9 |
- |
|
|
The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. …
|
View
|
| - |
- |
|
|
-
|
View
|
| TXNRD2 |
- |
|
|
Thioredoxin reductase (TR) is a dimeric NADPH-dependent FAD containing enzyme that catalyzes the reduction of the active site disulfide of …
|
View
|
| DLGAP1 |
- |
|
|
May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PGM2 |
- |
|
|
-
|
View
|
| PSMB4 |
- |
|
|
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed …
|
View
|
| RAB13 |
- |
|
|
Could participate in polarized transport, in the assembly and/or the activity of tight junctions.
|
View
|
| GGA2 |
- |
|
|
This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins …
|
View
|
| LAMA1 |
- |
|
|
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells …
|
View
|
| FBXL4 |
- |
|
|
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, …
|
View
|
| TFRC |
- |
|
|
Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron …
|
View
|
| - |
- |
|
|
Probably contributes to terminal cornification.
|
View
|
| CDH7 |
- |
|
|
This gene is a type II classical cadherin from the cadherin superfamily. The encoded membrane protein is a calcium dependent …
|
View
|
| - |
- |
|
|
-
|
View
|
| MAP1A |
- |
|
|
This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to …
|
View
|
| FUT9 |
- |
|
|
FUT9 is one of several alpha-3-fucosyltransferases that can catalyze the last step in the biosynthesis of Lewis antigen, the addition …
|
View
|
| PPL |
- |
|
|
The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| DVL2 |
- |
|
|
This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid …
|
View
|
| KIAA1913 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SRPX |
- |
|
|
May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction.
|
View
|
| PSMA8 |
- |
|
|
The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, …
|
View
|
| CPOX |
- |
|
|
-
|
View
|
| ARHGAP5 |
- |
|
|
Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis …
|
View
|
| KIAA0971 |
- |
|
|
-
|
View
|
| REG3A |
- |
|
|
This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to …
|
View
|
| PDZK4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| BTBD11 |
- |
|
|
-
|
View
|
| ANKRD31 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C9orf114 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PCDH18 |
- |
|
|
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which …
|
View
|
| - |
- |
|
|
-
|
View
|
| CCR7 |
- |
|
|
The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as …
|
View
|
| - |
- |
|
|
-
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| CRYBA4 |
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Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate …
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| ATXN7 |
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The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, …
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| C6orf176 |
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| - |
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| LOH12CR2 |
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| - |
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| - |
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| ARHGAP12 |
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GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state (By similarity).
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| - |
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May be an enzyme involved in the selenocysteine insertion pathway or a selenocysteine-specific elongation factor.
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| WBSCR23 |
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This gene is intronless and mapped to the commonly deleted region for Williams-Beuren Syndrome. The gene function is unknown.
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