Gene
six1a
- ID
- ZDB-GENE-040718-155
- Name
- SIX homeobox 1a
- Symbol
- six1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in regulation of inner ear receptor cell differentiation; regulation of skeletal muscle cell proliferation; and skeletal muscle fiber development. Predicted to localize to nucleus and transcription factor complex. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 23; branchiootorenal syndrome; and nephroblastoma. Is expressed in fast muscle cell; nervous system; otic vesicle; and somite. Orthologous to human SIX1 (SIX homeobox 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7154851 (9 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal dominant nonsyndromic deafness 23 | Alliance | Deafness, autosomal dominant 23 | 605192 |
branchiootic syndrome | Alliance | Branchiootic syndrome 3 | 608389 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeobox protein SIX1, N-terminal SD domain | Homeodomain | KN homeodomain |
---|---|---|---|---|---|---|
UniProtKB:A0A8M9QFC5
|
283 | |||||
UniProtKB:Q6DHF9
|
283 |
Interactions and Pathways
No data available
Plasmids
No data available