Gene
dlx5a
- ID
- ZDB-GENE-990415-49
- Name
- distal-less homeobox 5a
- Symbol
- dlx5a Nomenclature History
- Previous Names
-
- dlx4 (1)
- zgc:101787
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including embryonic morphogenesis; fin development; and olfactory nerve formation. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in split hand-foot malformation 1 with sensorineural hearing loss. Is expressed in several structures, including fin; forebrain; pectoral fin bud; pharyngeal arch; and presumptive structure. Orthologous to human DLX5 (distal-less homeobox 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 98 figures from 50 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101787 (15 images)
- eu348 (32 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| split hand-foot malformation 1 | Alliance | Split-hand/foot malformation 1 | 183600 |
| split hand-foot malformation 1 with sensorineural hearing loss | Alliance | ?Split-hand/foot malformation 1 with sensorineural hearing loss | 220600 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR000047 | Helix-turn-helix motif |
| Conserved_site | IPR017970 | Homeobox, conserved site |
| Domain | IPR001356 | Homeodomain |
| Domain | IPR020479 | Homeodomain, metazoa |
| Domain | IPR022135 | Distal-less-like homeobox protein, N-terminal domain |
| Family | IPR050460 | Distal-less homeobox transcription factors |
| Homologous_superfamily | IPR009057 | Homedomain-like superfamily |
Domain Details Per Protein
| Protein | Length | Distal-less homeobox transcription factors | Distal-less-like homeobox protein, N-terminal domain | Helix-turn-helix motif | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Homeodomain, metazoa |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:P50576
|
283 | |||||||
|
UniProtKB:Q5XJL9
|
282 |
Interactions and Pathways
No data available
Plasmids
No data available