Gene
twist1a
- ID
- ZDB-GENE-000210-6
- Name
- twist family bHLH transcription factor 1a
- Symbol
- twist1a Nomenclature History
- Previous Names
-
- twist-1
- twist1
- twist1b (2)
- wu:fd04c01
- zgc:101115
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Is predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in developmental process and regulation of transcription by RNA polymerase II. Acts upstream of or within pharyngeal system development and sprouting angiogenesis. Is expressed in several structures, including mesenchyme; mesoderm; nervous system; neural crest; and pharyngeal arch. Human ortholog(s) of this gene implicated in Saethre-Chotzen syndrome; Sweeney-Cox syndrome; acrocephalosyndactylia; and craniosynostosis. Orthologous to human TWIST1 (twist family bHLH transcription factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 44 figures from 26 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
craniosynostosis | Alliance | Craniosynostosis 1 | 123100 |
Saethre-Chotzen syndrome | Alliance | Robinow-Sorauf syndrome | 180750 |
Saethre-Chotzen syndrome | Alliance | Saethre-Chotzen syndrome with or without eyelid anomalies | 101400 |
Sweeney-Cox syndrome | Alliance | Sweeney-Cox syndrome | 617746 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Helix-loop-helix DNA-binding domain superfamily | Myc-type, basic helix-loop-helix (bHLH) domain |
---|---|---|---|
UniProtKB:Q9PTE3
|
171 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
twist1a-201
(1)
|
1148 nt |
Interactions and Pathways
No data available
Plasmids
No data available