Gene
hoxa1a
- ID
- ZDB-GENE-000823-5
- Name
- homeobox A1a
- Symbol
- hoxa1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have sequence-specific DNA binding activity. Predicted to be involved in multicellular organism development and regulation of transcription, DNA-templated. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Athabaskan brainstem dysgenesis syndrome and autistic disorder. Is expressed in basal plate midbrain region; central nervous system; pharyngeal arch; and presumptive hindbrain. Orthologous to human HOXA1 (homeobox A1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu257 (14 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Odelin et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Homeobox, conserved site | Homeobox protein Hox-A1/B1/D1 | Homeodomain | Homeodomain, metazoa |
|---|---|---|---|---|---|---|
|
UniProtKB:Q98SI1
|
329 | |||||
|
UniProtKB:B3DHB1
|
329 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hoxa1a-201
(1)
|
Ensembl | 885 nt | ||
| mRNA |
hoxa1a-202
(1)
|
Ensembl | 1,441 nt |
Interactions and Pathways
No data available
Plasmids