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
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. 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 Sweeney-Cox syndrome; breast cancer (multiple); and synostosis (multiple). Orthologous to human TWIST1 (twist family bHLH transcription factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 49 figures from 30 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 1 | 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 | Additional Resources | Length | E-box Binding Transcriptional Regulators | Helix-loop-helix DNA-binding domain superfamily | Myc-type, basic helix-loop-helix (bHLH) domain |
|---|---|---|---|---|---|
| UniProtKB:Q9PTE3 | InterPro | 171 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
twist1a-201
(1)
|
Ensembl | 1,148 nt | ||
| mRNA |
twist1a-202
(1)
|
Ensembl | 625 nt |
Interactions and Pathways
No data available
Plasmids
No data available