UniProt:P14679 TYR

chain
  • signal peptide:1-18
  • chain:19-529
checksum 67211A91608A59E1
comment
  • 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).CATALYTIC ACTIVITY 2 L-dopa + O2 = 2 L-dopaquinone + 2 H2OCATALYTIC ACTIVITY L-tyrosine + O2 = L-dopaquinone + H2OCATALYTIC ACTIVITY 2 5,6-dihydroxyindole-2-carboxylate + O2 = 2 indole-5,6-quinone-2-carboxylate + 2 H2OCOFACTOR Binds 2 copper ions per subunit.SUBUNIT Forms an OPN3-dependent complex with DCT in response to blue light in melanocytes.INTERACTION Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38.ALTERNATIVE PRODUCTS Increased expression after UVB irradiation.PTM Glycosylated.POLYMORPHISM Genetic variants in TYR define the skin/hair/eye pigmentation variation locus 3 (SHEP3) [MIM:601800]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.POLYMORPHISM Compound heterozygosity for the R402Q polymorphism and a mutant allele of TYR is a common cause of autosomal recessive ocular albinism. The R402Q polymorphism is also found in Waardenburg syndrome type II with ocular albinism in association with a deletion in the MITF gene.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the tyrosinase family.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Extended N-terminus.ONLINE INFORMATION TYR mutationsONLINE INFORMATION Snowy stardom - Issue 49 of August 2004ONLINE INFORMATION Tyrosinase entry
crossReference
databaseName UniProt
dbId 66645
description
  • recommendedName: fullName evidence="39"Tyrosinase ecNumber evidence="28"1.14.18.1 alternativeName: LB24-AB alternativeName: Monophenol monooxygenase alternativeName: SK29-AB alternativeName: Tumor rejection antigen AB
displayName UniProt:P14679 TYR
geneName
  • TYR
identifier P14679
isSequenceChanged false
keyword
  • 3D-structure
  • Albinism
  • Alternative splicing
  • Copper
  • Deafness
  • Disease variant
  • Glycoprotein
  • Melanin biosynthesis
  • Membrane
  • Metal-binding
  • Monooxygenase
  • Oxidoreductase
  • Proteomics identification
  • Reference proteome
  • Signal
  • Transmembrane
  • Transmembrane helix
  • Tumor antigen
  • Waardenburg syndrome
modified [InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType Protein
name
  • TYR
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • TYRO_HUMAN
  • Q15675
  • Q15676
  • Q15680
  • Q8TAK4
  • Q9BYY0
  • Q9BZX1
sequenceLength 529
species [Species:48887] Homo sapiens
stId uniprot:P14679
url http://purl.uniprot.org/uniprot/P14679
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