TYRP1
entrez
7306
canonical
uniprot
P17643
canonical
ensembl
ENSG00000107165
resolver
ensp
ENSP00000373570
resolver
enst
ENST00000388918
resolver
genesymbol
TYRP1
resolver
genesymbol_syn
CAS2
resolver
genesymbol_syn
TYRP
resolver
genesymbol_syn
TYRRP
resolver
hgnc
HGNC:12450
resolver
uniprot
P78468
resolver
uniprot
P78469
resolver
uniprot
Q13721
resolver
uniprot
Q15679
resolver
uniprot_entry
TYRP1_HUMAN
resolver
uniprot_sec
P78468
resolver
uniprot_sec
P78469
resolver
uniprot_sec
Q13721
resolver
uniprot_sec
Q15679
resolver
activity_regulation
ACTIVITY REGULATION: The activity depends critically on the nature of the bound metal ion. Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) in the presence of bound Cu(2+) ions, but lacks activity in the presence of bound Zn(2+) ions. {ECO:0000269|PubMed:28661582}.
uniprot
proteins
amino_acid_sequence
MSAPKLLSLGCIFFPLLLFQQARAQFPRQCATVEALRSGMCCPDLSPVSGPGTDRCGSSSGRGRCEAVTADSRPHSPQYPHDGRDDREVWPLRFFNRTCHCNGNFSGHNCGTCRPGWRGAACDQRVLIVRRNLLDLSKEEKNHFVRALDMAKRTTHPLFVIATRRSEEILGPDGNTPQFENISIYNYFVWTHYYSVKKTFLGVGQESFGEVDFSHEGPAFLTWHRYHLLRLEKDMQEMLQEPSFSLPYWNFATGKNVCDICTDDLMGSRSNFDSTLISPNSVFSQWRVVCDSLEDYDTLGTLCNSTEDGPIRRNPAGNVARPMVQRLPEPQDVAQCLEVGLFDTPPFYSNSTNSFRNTVEGYSDPTGKYDPAVRSLHNLAHLFLNGTGGQTHLSPNDPIFVLLHTFTDAVFDEWLRRYNADISTFPLENAPIGHNRQYNMVPFWPPVTNTEMFVTAPDNLGYTYEIQWPSREFSVPEIIAIAVVGALLLVALIFGTASYLIRARRSMDEANQPLLTDQYQCYAEEYEKLQNPNQSVV
uniprot
proteins
disease_involvement
DISEASE: Albinism, oculocutaneous, 3 (OCA3) [MIM:203290]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair. {ECO:0000269|PubMed:16704458, ECO:0000269|PubMed:23504663}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.18.-
uniprot
proteins
function
FUNCTION: Plays a role in melanin biosynthesis (PubMed:16704458, PubMed:22556244, PubMed:23504663). Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions, but not in the presence of Zn(2+) (PubMed:28661582). May regulate or influence the type of melanin synthesized (PubMed:16704458, PubMed:22556244). Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity). {ECO:0000250|UniProtKB:P07147, ECO:0000269|PubMed:16704458, ECO:0000269|PubMed:22556244, ECO:0000269|PubMed:23504663, ECO:0000269|PubMed:28661582}.
uniprot
proteins
mass_dalton
60724
uniprot
proteins
mutagenesis
MUTAGEN 362; /note="Y->F: No effect; when associated with S-374 and V-391."; /evidence="ECO:0000269|PubMed:28661582"; MUTAGEN 374; /note="R->S: No effect; when associated with F-362 and V-391."; /evidence="ECO:0000269|PubMed:28661582"; MUTAGEN 391; /note="T->V: No effect; when associated with F-362 and S-374."; /evidence="ECO:0000269|PubMed:28661582
uniprot
proteins
pathway_participation
PATHWAY: Pigment biosynthesis; melanin biosynthesis. {ECO:0000269|PubMed:16704458, ECO:0000269|PubMed:22556244, ECO:0000269|PubMed:23504663}.
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000250|UniProtKB:P07147}.
uniprot
proteins
protein_family
Tyrosinase family
uniprot
proteins
pubmed
12643545
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1575733
uniprot
proteins
pubmed
16704458
uniprot
proteins
pubmed
1693779
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
1906272
uniprot
proteins
pubmed
1945866
uniprot
proteins
pubmed
2111010
uniprot
proteins
pubmed
22556244
uniprot
proteins
pubmed
2324688
uniprot
proteins
pubmed
23504663
uniprot
proteins
pubmed
28661582
uniprot
proteins
pubmed
8530077
uniprot
proteins
pubmed
9434945
uniprot
proteins
pubmed
9758418
uniprot
proteins
sequence_length
537
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Melanosome membrane {ECO:0000250|UniProtKB:P07147}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P07147}. Note=Located to mature stage III and IV melanosomes and apposed endosomal tubular membranes. Transported to pigmented melanosomes by the BLOC-1 complex. Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38. {ECO:0000250|UniProtKB:P07147}.
uniprot
proteins
transmembrane_region
TRANSMEM 478..501; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins