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CDH1 | Cadherin-1; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. E-cadherin is a ligand for integrin alpha- E/beta-7. (887 aa) | ||||
MC1R | Melanocyte-stimulating hormone receptor; Receptor for MSH (alpha, beta) and ACTH. Does not seem to be active with gamma-MSH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase (By similarity). Belongs to the G-protein coupled receptor 1 family. (314 aa) | ||||
MITF | BHLH domain-containing protein. (519 aa) | ||||
RAD51B | RAD51 paralog B. (415 aa) | ||||
RAB27A | Rab27a. (221 aa) | ||||
CDC42 | Cell division control protein 42 homolog; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase. Regulates cell migration. Plays a role in the extension and maintenance of the formation of thin, actin- rich surface projections called filopodia. Also plays a role in phagocytos [...] (194 aa) | ||||
ACTB | Actin, cytoplasmic 1, N-terminally processed; 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. (375 aa) | ||||
PAX3 | Paired-box transcription factor protein PAX3. (484 aa) | ||||
SNAI2 | Uncharacterized protein. (258 aa) | ||||
EDN3 | Endothelin 3. (151 aa) | ||||
KIT | Mast/stem cell growth factor receptor Kit; Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. Activated KIT also transmits signals via [...] (960 aa) | ||||
HGF | Hepatocyte growth factor; Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization. Belongs to the peptidase S1 family. Plasminogen subfamily. (726 aa) | ||||
MYO5A | Unconventional myosin-Va; Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation (By similarity). (1830 aa) | ||||
TFEB | BHLH domain-containing protein. (493 aa) | ||||
NRAS | GTPase NRas; Ras proteins bind GDP/GTP and possess intrinsic GTPase activity; Belongs to the small GTPase superfamily. Ras family. (189 aa) | ||||
TYRP1 | 5,6-dihydroxyindole-2-carboxylic acid oxidase; Plays a role in melanin biosynthesis. Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6- quinone-2-carboxylic acid. May regulate or influence the type of melanin synthesized. Also to a lower extent, capable of hydroxylating tyrosine and producing melanin. (536 aa) | ||||
DCT | L-dopachrome tautomerase; Catalyzes the conversion of L-dopachrome into 5,6- dihydroxyindole-2-carboxylic acid (DHICA). Involved in regulating eumelanin and phaeomelanin levels. (521 aa) | ||||
EDNRB | G_PROTEIN_RECEP_F1_2 domain-containing protein; Belongs to the G-protein coupled receptor 1 family. (560 aa) | ||||
FGF2 | Fibroblast growth factor 2; Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4. Also acts as an integrin ligand which is required for FGF2 signaling. Plays an important role in the regulation of cell survival, cell division, cell differentiation and cell migration. Functions as a potent mitogen in vitro. Can induce angiogenesis; Belongs to the heparin-binding growth factors family. (158 aa) | ||||
POT1 | Protection of telomeres protein 1; Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex that is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Binds to at least two telomeric single- stranded 5'-TTAG [...] (848 aa) | ||||
TYR | Tyrosinase; This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone. (537 aa) | ||||
OCA2 | OCA2 melanosomal transmembrane protein. (726 aa) | ||||
TERT | Telomerase reverse transcriptase; Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. (1346 aa) | ||||
SOX10 | Transcription factor SOX-10; Transcription factor that plays a central role in developing and mature glia. Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, thereby playing a central role in oligodendrocyte maturation and CNS myelination. (461 aa) | ||||
HIF1A | Hypoxia-inducible factor 1-alpha; Functions as a master transcriptional regulator of the adaptive response to hypoxia. Binds to core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response element (HRE) of target gene promoters. Activation requires recruitment of transcriptional coactivators (By similarity). (811 aa) | ||||
KITLG | Processed kit ligand; Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Acts synergistically with other cytokines, probably interleukins (By similarity). (287 aa) | ||||
CDK6 | Cyclin-dependent kinase; Belongs to the protein kinase superfamily. (326 aa) | ||||
JAG1 | Delta-like protein; Putative Notch ligand involved in the mediation of Notch signaling. (1216 aa) | ||||
POLE | DNA polymerase epsilon catalytic subunit; DNA polymerase II participates in chromosomal DNA replication; Belongs to the DNA polymerase type-B family. (2290 aa) | ||||
SHH | Sonic hedgehog protein N-product; [Sonic hedgehog protein]: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the reticulum endoplasmic (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By similarity). (425 aa) | ||||
BAP1 | Ubiquitin carboxyl-terminal hydrolase BAP1; Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (By similarity); Belongs to the peptidase C12 family. BAP1 subfamily. (751 aa) | ||||
PTEN | Phosphatase and tensin homolog; Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine- phosphorylated proteins. Also acts as a lipid phosphatase. Belongs to the PTEN phosphatase protein family. (423 aa) | ||||
TERF2IP | Telomeric repeat-binding factor 2-interacting protein 1; Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). Does not bind DNA directly: recruited to telomeric double-stranded 5'- TTAGGG-3' repeats via its interaction with terf2. Independently of its function in telomeres, also acts as a transcription regulator: recruited to extratelomeric 5'-TTAGGG-3' sites via its association with terf2 or other factors, and regulates gene expression (By similar [...] (409 aa) |