Gene
tyrp1b
- ID
- ZDB-GENE-040718-249
- Name
- tyrosinase-related protein 1b
- Symbol
- tyrp1b Nomenclature History
- Previous Names
-
- tyrp1 (1)
- hm:zeh0659
- oca3
- zgc:100893
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have metal ion binding activity and oxidoreductase activity. Involved in several processes, including 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 several structures, including eye; hatching gland; immature eye; melanoblast; and pigment cell. Orthologous to human TYRP1 (tyrosinase related protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 27 figures from 22 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6894514 (14 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- 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 copper-binding domain |
|---|---|---|---|
|
UniProtKB:Q6DGE4
|
526 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
tyrp1b-201
(1)
|
Havana | 1969 nt |
Interactions and Pathways
No data available
Plasmids
No data available