Gene

hoxa1a

ID

ZDB-GENE-000823-5

Name

homeobox A1a

Symbol

hoxa1a Nomenclature History

Previous Names

Hox-a1 (1)
id:ibd3526 (1)
z-4

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Description

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of DNA-templated transcription. Predicted to be active in nucleus. Is expressed in basal plate midbrain region; central nervous system; pharyngeal arch; and presumptive hindbrain. Human ortholog(s) of this gene implicated in Athabaskan brainstem dysgenesis syndrome and autistic disorder. Orthologous to human HOXA1 (homeobox A1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

14 figures from 8 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu257 (14 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from Odelin et al., 2023
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With hoxa1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Athabaskan brainstem dysgenesis syndrome	Alliance	Athabaskan brainstem dysgenesis syndrome	601536
Athabaskan brainstem dysgenesis syndrome	Alliance	Bosley-Salih-Alorainy syndrome	601536

Associated With hoxa1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017970	Homeobox, conserved site
Domain	IPR001356	Homeodomain
Domain	IPR020479	Homeodomain, metazoa
Family	IPR046327	Homeobox protein Hox-A1/B1/D1
Homologous_superfamily	IPR009057	Homedomain-like superfamily