InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TYR

Summary

InnateDB Protein

IDBP-67285.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TYR

Protein Name

tyrosinase (oculocutaneous albinism IA)

Synonyms

ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3;

Species

Homo sapiens

Ensembl Protein

ENSP00000263321

InnateDB Gene

IDBG-67283 (TYR)

Protein Structure

UniProt Annotation

Function

This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone.

Subcellular Localization

Melanosome membrane {ECO:0000269PubMed:12643545, ECO:0000269PubMed:17081065}; Single-pass type I membrane protein {ECO:0000269PubMed:12643545, ECO:0000269PubMed:17081065}.

Disease Associations

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:0000269PubMed:10571953, ECO:0000269PubMed:10671066, ECO:0000269PubMed:10987646, ECO:0000269PubMed:11295837, ECO:0000269PubMed:11858948, ECO:0000269PubMed:1487241, ECO:0000269PubMed:15146472, ECO:0000269PubMed:1642278, ECO:0000269PubMed:1899321, ECO:0000269PubMed:1943686, ECO:0000269PubMed:1970634, ECO:0000269PubMed:2342539, ECO:0000269PubMed:7902671, ECO:0000269PubMed:7955413, ECO:0000269PubMed:8128955, ECO:0000269PubMed:8644824, ECO:0000269PubMed:9259202}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:10987646, ECO:0000269PubMed:1900309, ECO:0000269PubMed:1903591, ECO:0000269PubMed:8128955}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	2 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004503	monophenol monooxygenase activity
GO:0005507	copper ion binding
GO:0005515	protein binding
GO:0016491	oxidoreductase activity
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization activity

Biological Process

GO:0006583	melanin biosynthetic process from tyrosine
GO:0006726	eye pigment biosynthetic process
GO:0007601	visual perception
GO:0008152	metabolic process
GO:0008283	cell proliferation
GO:0042438	melanin biosynthetic process
GO:0043473	pigmentation
GO:0048538	thymus development
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005737	cytoplasm
GO:0005764	lysosome
GO:0005798	Golgi-associated vesicle
GO:0016021	integral component of membrane
GO:0033162	melanosome membrane
GO:0042470	melanosome
GO:0048471	perinuclear region of cytoplasm