AlphaFold predicted structure
TYRP1 · P17643
Mean pLDDT
91.7/ 100
Very high
537 residues
Confidence breakdown
- Very high(≥ 90)85%
- Confident(70–90)4%
- Low(50–70)4%
- Very low(< 50)7%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
TYRP1
Chr 9p23tyrosinase related protein 1
- Aliases:
- GP75, CATB, TRP, b-PROTEIN, OCA3
- MANE:
- ENST00000388918.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalInfantile nystagmus
BIALLELIC, autosomal or pseudoautosomalOcular and oculo-cutaneous albinism
BIALLELIC, autosomal or pseudoautosomalPigmentary skin disorders
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
oculocutaneous albinism type 3
0.80oculocutaneous albinism
0.66oculocutaneous albinism type 6
0.57Abnormality of skin pigmentation
0.54hair color
0.49actinic keratosis
0.48skin cancer
0.48eye color
0.47cutaneous melanoma
0.46skin disorder
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
5,6-dihydroxyindole-2-carboxylic acid oxidase
Plays a role in melanin biosynthesis (PubMed:16704458, PubMed:22556244, PubMed:23504663). Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions, but not in the presence of Zn(2+) (PubMed:28661582). May regulate or influence the type of melanin synthesized (PubMed:16704458, PubMed:22556244). Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity)