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Details on Person UniProt:P14679-1 TYR
| Class:Id | ReferenceIsoform:402965 |
|---|---|
| _chainChangeLog | signal peptide:1-18 added on Sat February 7 2015;chain:19-529 added on Sat February 7 2015 |
| _displayName | UniProt:P14679-1 TYR |
| _timestamp | 2025-08-15 22:12:44 |
| 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 |
| created | [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 |
| 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 |
| geneName | TYR |
| identifier | P14679 |
| isoformParent | |
| 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:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | TYR |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8998075] ENSEMBL:ENSG00000077498 TYR [Homo sapiens] |
| secondaryIdentifier | TYRO_HUMAN Q15675 Q15676 Q15680 Q8TAK4 Q9BYY0 Q9BZX1 |
| sequenceLength | 529 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | P14679-1 |
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No pathways have been reviewed or authored by UniProt:P14679-1 TYR (402965)
