| IED ID | IndEnz0016000032 |
| Enzyme Type ID | tyrosinase000032 |
| Protein Name |
P protein Melanocyte-specific transporter protein Pink-eyed dilution protein homolog |
| Gene Name | OCA2 D15S12 P |
| Organism | Homo sapiens (Human) |
| Taxonomic Lineage | cellular organisms Eukaryota Opisthokonta Metazoa Eumetazoa Bilateria Deuterostomia Chordata Craniata Vertebrata Gnathostomata (jawed vertebrates) Teleostomi Euteleostomi Sarcopterygii Dipnotetrapodomorpha Tetrapoda Amniota Mammalia Theria Eutheria Boreoeutheria Euarchontoglires Primates Haplorrhini Simiiformes Catarrhini Hominoidea (apes) Hominidae (great apes) Homininae Homo Homo sapiens (Human) |
| Enzyme Sequence | MHLEGRDGRRYPGAPAVELLQTSVPSGLAELVAGKRRLPRGAGGADPSHSCPRGAAGQSSWAPAGQEFASFLTKGRSHSSLPQMSSSRSKDSCFTENTPLLRNSLQEKGSRCIPVYHPEFITAEESWEDSSADWERRYLLSREVSGLSASASSEKGDLLDSPHIRLRLSKLRRCVQWLKVMGLFAFVVLCSILFSLYPDQGKLWQLLALSPLENYSVNLSSHVDSTLLQVDLAGALVASGPSRPGREEHIVVELTQADALGSRWRRPQQVTHNWTVYLNPRRSEHSVMSRTFEVLTRETVSISIRASLQQTQAVPLLMAHQYLRGSVETQVTIATAILAGVYALIIFEIVHRTLAAMLGSLAALAALAVIGDRPSLTHVVEWIDFETLALLFGMMILVAIFSETGFFDYCAVKAYRLSRGRVWAMIIMLCLIAAVLSAFLDNVTTMLLFTPVTIRLCEVLNLDPRQVLIAEVIFTNIGGAATAIGDPPNVIIVSNQELRKMGLDFAGFTAHMFIGICLVLLVCFPLLRLLYWNRKLYNKEPSEIVELKHEIHVWRLTAQRISPASREETAVRRLLLGKVLALEHLLARRLHTFHRQISQEDKNWETNIQELQKKHRISDGILLAKCLTVLGFVIFMFFLNSFVPGIHLDLGWIAILGAIWLLILADIHDFEIILHRVEWATLLFFAALFVLMEALAHLHLIEYVGEQTALLIKMVPEEQRLIAAIVLVVWVSALASSLIDNIPFTATMIPVLLNLSHDPEVGLPAPPLMYALAFGACLGGNGTLIGASANVVCAGIAEQHGYGFSFMEFFRLGFPMMVVSCTVGMCYLLVAHVVVGWN |
| Enzyme Length | 838 |
| Uniprot Accession Number | Q04671 |
| Absorption | |
| Active Site | |
| Activity Regulation | |
| Binding Site | |
| Calcium Binding | |
| catalytic Activity | |
| DNA Binding | |
| EC Number | |
| Enzyme Function | FUNCTION: Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color. {ECO:0000269|PubMed:11310796, ECO:0000269|PubMed:15262401, ECO:0000269|PubMed:18252222, ECO:0000269|PubMed:22234890, ECO:0000269|PubMed:7601462}. |
| Temperature Dependency | |
| PH Dependency | |
| Pathway | |
| nucleotide Binding | |
| Features | Alternative sequence (3); Chain (1); Glycosylation (5); Natural variant (61); Region (2); Topological domain (13); Transmembrane (12) |
| Keywords | Albinism;Alternative splicing;Disease variant;Glycoprotein;Membrane;Reference proteome;Transmembrane;Transmembrane helix;Transport |
| Interact With | |
| Induction | INDUCTION: Expression is under the control of an enhancer element that is encoded in an intron of the close-by HERC2 gene. The enhancer element containing the T-allele of the polymorphism rs12913832 mediates binding of the transcription factors HLTF, LEF1 and MITF and increases OCA2 expression. In contrast, transcription factor binding and OCA2 expression are reduced in carriers of the C-allele of polymorphism rs12913832. Thus, people homozygous for the C-allele have light-colored eyes, while people homozygous for the T-allele of polymorphism rs12913832 most often have brown eyes. {ECO:0000269|PubMed:18172690, ECO:0000269|PubMed:18252222, ECO:0000269|PubMed:22234890}. |
| Subcellular Location | SUBCELLULAR LOCATION: Melanosome membrane {ECO:0000269|PubMed:7601462}; Multi-pass membrane protein {ECO:0000269|PubMed:7601462}. |
| Modified Residue | |
| Post Translational Modification | |
| Signal Peptide | |
| Structure 3D | |
| Cross Reference PDB | - |
| Mapped Pubmed ID | 12028586; 12469324; 12579416; 12817591; 15712365; 16417222; 16453125; 17568986; 17570052; 17619204; 17767372; 17960121; 18093281; 18326704; 18463683; 18483556; 18528436; 18563784; 18636124; 18650849; 18680187; 18683857; 18839200; 19060277; 19116314; 19170196; 19208107; 19297406; 19320733; 19340012; 19382693; 19384953; 19472299; 19625176; 19626598; 19692168; 19710684; 19772629; 19865097; 19913121; 20019752; 20221248; 20308648; 20379614; 20457063; 20585627; 20628086; 20629734; 20801516; 21085994; 21541274; 21677667; 21979861; 22042571; 22645275; 23063908; 23103111; 23165166; 23601698; 23824587; 24361966; 24387780; 25119903; 25455140; 25469862; 25809079; 25919014; 26744415; 28081795; 31345173; 31813138; 32963319; 32966289; 33800529; 33974259; 34246199; 34795370; 6766744; 8875191; 9770375; |
| Motif | |
| Gene Encoded By | |
| Mass | 92,850 |
| Kinetics | |
| Metal Binding | |
| Rhea ID | |
| Cross Reference Brenda |