Detail Information for IndEnz0016000032
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