TYR
entrez
7299
canonical
uniprot
P14679
canonical
ensembl
ENSG00000077498
resolver
ensp
ENSP00000263321
resolver
genesymbol
TYR
resolver
hgnc
HGNC:12442
resolver
uniprot
L8B082
resolver
uniprot
Q15675
resolver
uniprot
Q15676
resolver
uniprot
Q15680
resolver
uniprot
Q8TAK4
resolver
uniprot
Q9BYY0
resolver
uniprot
Q9BZX1
resolver
uniprot_entry
L8B082_HUMAN
resolver
uniprot_entry
TYRO_HUMAN
resolver
uniprot_sec
Q15675
resolver
uniprot_sec
Q15676
resolver
uniprot_sec
Q15680
resolver
uniprot_sec
Q8TAK4
resolver
uniprot_sec
Q9BYY0
resolver
uniprot_sec
Q9BZX1
resolver
amino_acid_sequence
MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILLSNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMKNGSTPMFNDINIYDLFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRDAEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEEYNSHQSLCNGTPEGPLRRNPGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDKAANFSFRNTLEGFASPLTGIADASQSSMHNALHIYMNGTMSQVQGSANDPIFLLHHAFVDSIFEQWLRRHRPLQEVYPEANAPIGHNRESYMVPFIPLYRNGDFFISSKDLGYDYSYLQDSDPDSFQDYIKSYLEQASRIWSWLLGAAMVGAVLTALLAGLVSLLCRHKRKQLPEEKQPLLMEKEDYHSLYQSHL
uniprot
proteins
disease_involvement
DISEASE: Albinism, oculocutaneous, 1A (OCA1A) [MIM:203100]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia. {ECO:0000269|PubMed:10571953, ECO:0000269|PubMed:10671066, ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:11295837, ECO:0000269|PubMed:11858948, ECO:0000269|PubMed:1487241, ECO:0000269|PubMed:15146472, ECO:0000269|PubMed:1642278, ECO:0000269|PubMed:1899321, ECO:0000269|PubMed:1943686, ECO:0000269|PubMed:1970634, ECO:0000269|PubMed:22981120, ECO:0000269|PubMed:2342539, ECO:0000269|PubMed:23504663, ECO:0000269|PubMed:24934919, ECO:0000269|PubMed:7902671, ECO:0000269|PubMed:7955413, ECO:0000269|PubMed:8026428, ECO:0000269|PubMed:8128955, ECO:0000269|PubMed:8434585, ECO:0000269|PubMed:8644824, ECO:0000269|PubMed:9259202}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Albinism, oculocutaneous, 1B (OCA1B) [MIM:606952]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C. {ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:1900309, ECO:0000269|PubMed:1903591, ECO:0000269|PubMed:8128955, ECO:0000269|PubMed:9259202}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.18.1
uniprot
proteins
function
FUNCTION: 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 (By similarity). 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 (PubMed:28661582). {ECO:0000250|UniProtKB:P11344, ECO:0000269|PubMed:28661582}.
uniprot
proteins
mass_dalton
60393
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000250|UniProtKB:P11344}.
uniprot
proteins
protein_family
Tyrosinase family
uniprot
proteins
pubmed
10094567
uniprot
proteins
pubmed
10571953
uniprot
proteins
pubmed
10671066
uniprot
proteins
pubmed
10987646
uniprot
proteins
pubmed
11153699
uniprot
proteins
pubmed
11214319
uniprot
proteins
pubmed
11295837
uniprot
proteins
pubmed
11858948
uniprot
proteins
pubmed
12643545
uniprot
proteins
pubmed
1487241
uniprot
proteins
pubmed
15146472
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1642278
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
1711223
uniprot
proteins
pubmed
17952075
uniprot
proteins
pubmed
17999355
uniprot
proteins
pubmed
1899321
uniprot
proteins
pubmed
1900309
uniprot
proteins
pubmed
1903356
uniprot
proteins
pubmed
1903591
uniprot
proteins
pubmed
1943686
uniprot
proteins
pubmed
1970634
uniprot
proteins
pubmed
22981120
uniprot
proteins
pubmed
2342539
uniprot
proteins
pubmed
23504663
uniprot
proteins
pubmed
2480811
uniprot
proteins
pubmed
24934919
uniprot
proteins
pubmed
2499655
uniprot
proteins
pubmed
2504160
uniprot
proteins
pubmed
2823263
uniprot
proteins
pubmed
28661582
uniprot
proteins
pubmed
28842328
uniprot
proteins
pubmed
7902671
uniprot
proteins
pubmed
7955413
uniprot
proteins
pubmed
8026428
uniprot
proteins
pubmed
8128955
uniprot
proteins
pubmed
8340755
uniprot
proteins
pubmed
8434585
uniprot
proteins
pubmed
8477259
uniprot
proteins
pubmed
8644824
uniprot
proteins
pubmed
9158138
uniprot
proteins
pubmed
9259202
uniprot
proteins
sequence_length
529
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Melanosome membrane {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}; Single-pass type I membrane protein {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000250|UniProtKB:P11344}. Note=Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38. {ECO:0000250|UniProtKB:P11344}.
uniprot
proteins
transmembrane_region
TRANSMEM 477..497; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins