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Gene: TWIST1 (twist family bHLH transcription factor 1) Homo sapiens
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Symbol: TWIST1
Name: twist family bHLH transcription factor 1
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 cytokine production; and regulation of nucleobase-containing compound metabolic process. Localizes to the 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
Orthologs:
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)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on TWIST1
Alliance Gene
NCBI 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: 2019-10-29
Status: ACTIVE



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