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 have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in pharyngeal system development and sprouting angiogenesis. Predicted to localize to nuclear chromatin. 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
Expression
All Expression Data
46 figures from 27 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With twist1a Human Ortholog
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
Associated With twist1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Family IPR050283 E-box Binding Transcriptional Regulators
Homologous_superfamily IPR036638 Helix-loop-helix DNA-binding domain superfamily
Domain Details Per Protein
Protein Length E-box Binding Transcriptional Regulators Helix-loop-helix DNA-binding domain superfamily Myc-type, basic helix-loop-helix (bHLH) domain
UniProtKB:Q9PTE3 171
Transcripts
Genome Browsers
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
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations