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5,6-dihydroxyindole-2-carboxylic acid oxidase; DHICA oxidase; tyrosinase-related protein 1; TYRP1, catalase B; glycoprotein-75; gp75; brown [b] locus protein homolog; CAS2 protein; melanoma antigen gp75; monophenol monooxygenase homolog (TYRP1, CAS2, TYRP, TYRRP)
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
- pigment biosynthesis; melanin biosynthesis
Cofactor: binds 2 copper ions per subunit (putative)
Structure: belongs to the tyrosinase family
Compartment: melanosome membrane
Expression: pigment cells
Pathology:
- defects in TYRP1 are the cause of
a) Rufous oculocutaneous albinism
b) oculocutaneous albinism type 3
Related
tyrosinase (monophenol monooxygenase, tumor rejection antigen AB, SK29-AB, LB24-AB, TYR)
General
glycoprotein
membrane protein
metalloprotein
oxidoreductase
Properties
SIZE: entity length = 537 aa
MW = 61 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-24}
N-glycosylation site {N96}
N-glycosylation site {N104}
N-glycosylation site {N181}
copper [Cu]-binding site
SITE: 192-192
MOTIF: histidine residue (3)
copper [Cu]-binding site
SITE: 215-215
MOTIF: histidine residue (3)
copper [Cu]-binding site
SITE: 224-224
MOTIF: histidine residue (3)
N-glycosylation site {N304}
N-glycosylation site {N350}
copper [Cu]-binding site
SITE: 377-377
MOTIF: histidine residue (3)
copper [Cu]-binding site
SITE: 381-381
MOTIF: histidine residue (3)
N-glycosylation site {N385}
copper [Cu]-binding site
SITE: 404-404
MOTIF: histidine residue (3)
transmembrane domain {478-501}
Database Correlations
OMIM correlations
MORBIDMAP 115501
UniProt P17643
Pfam PF00264
Entrez Gene 7306
Kegg hsa:7306
References
- UniProt :accession P17643
- Mutations of the TYRP1 gene
Note: Retina International's Scientific newsletter
http://www.retina-international.com/sci-news/trp1mut.htm
- Albinism database (ADB); Note: TYRP1 mutations
http://albinismdb.med.umn.edu/oca3mut.html