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

Expression

All Expression Data

44 figures from 26 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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
Homologous_superfamily	IPR036638	Helix-loop-helix DNA-binding domain superfamily

Domain Details Per Protein

Protein	Length	Helix-loop-helix DNA-binding domain superfamily	Myc-type, basic helix-loop-helix (bHLH) domain
UniProtKB:Q9PTE3 InterPro	171

Transcripts

Genome Browsers

Type	Name	Length (nt)	Analysis
mRNA	twist1a-201 (1) Ensembl	1148 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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