Gene
tyrp1a
- ID
- ZDB-GENE-070718-2
- Name
- tyrosinase-related protein 1a
- Symbol
- tyrp1a Nomenclature History
- Previous Names
-
- oca3
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have metal ion binding activity and oxidoreductase activity. Involved in melanocyte differentiation; melanosome organization; and retinal pigment epithelium development. Predicted to localize to melanosome. Human ortholog(s) of this gene implicated in oculocutaneous albinism; oculocutaneous albinism type III; and pigmentation disease. Is expressed in eye; female organism; male organism; melanoblast; and migratory neural crest cell. Orthologous to human TYRP1 (tyrosinase related protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Krauss et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| oculocutaneous albinism type III | Alliance | Albinism, oculocutaneous, type III | 203290 |
| [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)] | 612271 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Di-copper centre-containing domain superfamily | Tyrosinase and Hemocyanin | Tyrosinase copper-binding domain |
|---|---|---|---|---|
|
UniProtKB:A0A8M9Q985
|
448 | |||
|
UniProtKB:F1QEC9
|
524 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tyrp1a-201
(1)
|
Ensembl | 2,192 nt |
Interactions and Pathways
No data available
Plasmids
No data available