InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TYRP1

Summary

InnateDB Protein

IDBP-49766.6

Last Modified

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

Gene Symbol

TYRP1

Protein Name

tyrosinase-related protein 1

Synonyms

b-PROTEIN; CAS2; CATB; GP75; OCA3; TRP; TRP1; TYRP;

Species

Homo sapiens

Ensembl Protein

ENSP00000373570

InnateDB Gene

IDBG-49760 (TYRP1)

Protein Structure

UniProt Annotation

Function

Oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid. May regulate or influence the type of melanin synthesized.

Subcellular Localization

Melanosome membrane {ECO:0000250}; Single- pass type I membrane protein {ECO:0000250}. Note=Located to mature stage III and IV melanosomes and apposed endosomal tubular membranes. Transported to pigmented melanosomes by the BLOC-1 complex (By similarity). {ECO:0000250}.

Disease Associations

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:0000269PubMed:16704458}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Pigment cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	6 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005507	copper ion binding
GO:0005515	protein binding
GO:0016491	oxidoreductase activity
GO:0016716	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization activity

Biological Process

GO:0006582	melanin metabolic process
GO:0008152	metabolic process
GO:0030318	melanocyte differentiation
GO:0032438	melanosome organization
GO:0042438	melanin biosynthetic process
GO:0043438	acetoacetic acid metabolic process
GO:0043473	pigmentation
GO:0055114	oxidation-reduction process

Cellular Component

GO:0010008	endosome membrane
GO:0016021	integral component of membrane
GO:0030669	clathrin-coated endocytic vesicle membrane
GO:0033162	melanosome membrane
GO:0042470	melanosome