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 protein dimerization activity. Involved in pharyngeal system development and sprouting angiogenesis. Human ortholog(s) of this gene implicated in Saethre-Chotzen syndrome; Sweeney-Cox syndrome; acrocephalosyndactylia; and craniosynostosis. Is expressed in several structures, including mesenchyme; mesoderm; nervous system; neural crest; and pharyngeal arch. Orthologous to human TWIST1 (twist family bHLH transcription factor 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

47 figures from 28 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 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

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