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Gene: TWIST1 (twist family bHLH transcription factor 1) Homo sapiens
Symbol: TWIST1
Name: twist family bHLH transcription factor 1
CRRD ID: 1349130
Description: Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific; E-box binding activity; and bHLH transcription factor binding activity. Involved in several processes, including animal organ development; positive regulation of gene expression; and regulation of cellular response to stress. Localizes to nucleus. Implicated in Saethre-Chotzen syndrome; Sweeney-Cox syndrome; acrocephalosyndactylia; and craniosynostosis. Biomarker of pulmonary fibrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACS3; B-HLH DNA binding protein; bHLHa38; BPES2; BPES3; class A basic helix-loop-helix protein 38; craniosynostosis; CRS; CRS1; CSO; H-twist; SCS; SWCOS; TWIST; twist basic helix-loop-helix transcription factor 1; twist homolog 1; TWIST homolog of drosophila; twist-related protein 1
Mus musculus (house mouse) : Twist1 (twist basic helix-loop-helix transcription factor 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Twist1 (twist family bHLH transcription factor 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Twist1 (twist family bHLH transcription factor 1)
Pan paniscus (bonobo/pygmy chimpanzee) : TWIST1 (twist family bHLH transcription factor 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Twist1 (twist family bHLH transcription factor 1)
Sus scrofa (pig) : TWIST1 (twist family bHLH transcription factor 1)
Chlorocebus sabaeus (African green monkey) : TWIST1 (twist family bHLH transcription factor 1)
Heterocephalus glaber (naked mole-rat) : Twist1 (twist family bHLH transcription factor 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl719,020,991 - 19,117,636 (-)EnsemblGRCh38hg38GRCh38
GRCh38719,113,047 - 19,117,636 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37719,039,315 - 19,157,295 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36719,121,616 - 19,123,820 (-)NCBINCBI36hg18NCBI36
Build 34718,928,330 - 18,930,265NCBI
Celera719,134,693 - 19,136,894 (-)NCBI
Cytogenetic Map7p21.1NCBI
HuRef719,039,766 - 19,041,695 (-)NCBIHuRef
CHM1_1719,155,871 - 19,158,073 (-)NCBICHM1_1
CRA_TCAGchr7v2719,206,542 - 19,208,746 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on TWIST1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1349130
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-10-06
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.