Gene
msx1a
- ID
- ZDB-GENE-980526-312
- Name
- muscle segment homeobox 1a
- Symbol
- msx1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II regulatory region sequence-specific DNA binding activity. Involved in otic placode formation. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in cleft lip; cleft palate; orofacial cleft 5; tooth and nail syndrome; and tooth disease (multiple). Is expressed in several structures, including immature eye; nervous system; neural keel; pharyngeal arch; and regenerating fin. Orthologous to human MSX1 (msh homeobox 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 32 figures from 22 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb435 (23 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| orofacial cleft 5 | Alliance | Orofacial cleft 5 | 608874 |
| tooth agenesis | Alliance | Tooth agenesis, selective, 1, with or without orofacial cleft | 106600 |
| tooth and nail syndrome | Alliance | Ectodermal dysplasia 3, Witkop type | 189500 |
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 |
| Family | IPR050674 | Msh Homeobox Transcriptional Regulators |
| Homologous_superfamily | IPR009057 | Homedomain-like superfamily |
Domain Details Per Protein
| Protein | Length | Helix-turn-helix motif | Homedomain-like superfamily | Homeobox, conserved site | Homeodomain | Homeodomain, metazoa | Msh Homeobox Transcriptional Regulators |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q90455
|
233 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available