Gene

six1a

ID

ZDB-GENE-040718-155

Name

SIX homeobox 1a

Symbol

six1a Nomenclature History

Previous Names

six1b (1)
six2
zgc:92332 (1)

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Description

Enables DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in regulation of transcription by RNA polymerase II. Acts upstream of or within regulation of inner ear receptor cell differentiation; regulation of skeletal muscle cell proliferation; and skeletal muscle fiber development. Predicted to be located in cytoplasm. Predicted to be part of transcription regulator complex. Is expressed in musculature system; nervous system; otic vesicle; and somite. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 23; branchiootorenal syndrome; and nephroblastoma. Orthologous to human SIX1 (SIX homeobox 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7154851 (9 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 3 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With six1a Human Ortholog

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

Associated With six1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR000047	Helix-turn-helix motif
Conserved_site	IPR017970	Homeobox, conserved site
Domain	IPR001356	Homeobox domain
Domain	IPR031701	Homeobox protein SIX1, N-terminal SD domain
Family	IPR031278	Homeobox protein SIX1
Homologous_superfamily	IPR009057	Homeobox-like domain superfamily