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
Expression
All Expression Data
5 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Krauss et al., 2014
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tyrp1a Human Ortholog
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
Associated With tyrp1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR002227 Tyrosinase copper-binding domain
Homologous_superfamily IPR008922 Di-copper centre-containing domain superfamily
Domain Details Per Protein
Protein Length Di-copper centre-containing domain superfamily Tyrosinase copper-binding domain
UniProtKB:A0A8M9Q985 448
UniProtKB:F1QEC9 524
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations