TWIST1 twist family bHLH transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TWIST1provided by HGNC
Official Full Name: twist family bHLH transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:12428
See related: Ensembl:ENSG00000122691 MIM:601622; AllianceGenome:HGNC:12428
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CRS; CSO; SCS; ACS3; CRS1; BPES2; BPES3; SWCOS; TWIST; bHLHa38
Summary: This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]
Expression: Biased expression in fat (RPKM 17.1), endometrium (RPKM 12.4) and 10 other tissues See more
Orthologs: all
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Genomic context

Location:: 7p21.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (19113047..19117636, complement)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (19242984..19247572, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (19152670..19157259, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TWIST1+FAP+ fibroblasts in the pathogenesis of intestinal fibrosis in Crohn's disease.
Title: TWIST1+FAP+ fibroblasts in the pathogenesis of intestinal fibrosis in Crohn's disease.
The Role of Twist1 in Chronic Pancreatitis-Associated Pancreatic Stellate Cells.
Title: The Role of Twist1 in Chronic Pancreatitis-Associated Pancreatic Stellate Cells.
DNA hypermethylation of tumor suppressor genes TWIST1, GATA4, MUS81 and NTRK1 in endometrial hyperplasia.
Title: DNA hypermethylation of tumor suppressor genes TWIST1, GATA4, MUS81 and NTRK1 in endometrial hyperplasia.
Inhibition of FBP1 expression by KMT5A through TWIST1 methylation is one of the mechanisms leading to chemoresistance in breast cancer.
Title: Inhibition of FBP1 expression by KMT5A through TWIST1 methylation is one of the mechanisms leading to chemoresistance in breast cancer.
A comprehensive exploration of twist1 to identify a biomarker for tumor immunity and prognosis in pan-cancer.
Title: A comprehensive exploration of twist1 to identify a biomarker for tumor immunity and prognosis in pan-cancer.
TMEM158 functions as an oncogene and promotes lung adenocarcinoma progression through the PI3K/AKT pathway via interaction with TWIST1.
Title: TMEM158 functions as an oncogene and promotes lung adenocarcinoma progression through the PI3K/AKT pathway via interaction with TWIST1.
Ubiquitin-specific protease 5 promotes bladder cancer progression through stabilizing Twist1.
Title: Ubiquitin-specific protease 5 promotes bladder cancer progression through stabilizing Twist1.
Co-expression of Twist and Snai1: predictor of poor prognosis and biomarker of treatment resistance in untreated prostate cancer.
Title: Co-expression of Twist and Snai1: predictor of poor prognosis and biomarker of treatment resistance in untreated prostate cancer.
Shake It Up Baby Now: The Changing Focus on TWIST1 and Epithelial to Mesenchymal Transition in Cancer and Other Diseases.
Title: Shake It Up Baby Now: The Changing Focus on TWIST1 and Epithelial to Mesenchymal Transition in Cancer and Other Diseases.
The clinical significance of SNAIL, TWIST, and E-Cadherin expression in gastric mesentery tumor deposits of advanced gastric cancer.
Title: The clinical significance of SNAIL, TWIST, and E-Cadherin expression in gastric mesentery tumor deposits of advanced gastric cancer.

Submit: New GeneRIF Correction See all GeneRIFs (681)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Robinow-Sorauf syndrome MedGen: C1867146 OMIM: 180750 GeneReviews: Not available	Compare labs
Saethre-Chotzen syndrome MedGen: C0175699 OMIM: 101400 GeneReviews: Saethre-Chotzen Syndrome	Compare labs
Sweeney-Cox syndrome MedGen: C4540299 OMIM: 617746 GeneReviews: Not available	Compare labs
TWIST1-related craniosynostosis MedGen: C4551902 OMIM: 123100 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-12-16) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-16) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-Y10871 (e-PCR)
- UniSTS:53029

M63649 (e-PCR)
- UniSTS:124970

RH99312 (e-PCR)
- UniSTS:92767

MARC_39127-39128:1075469460:1 (e-PCR)
- UniSTS:467355

TWIST1_2534 (e-PCR)
- UniSTS:281071

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription repressor activity	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables bHLH transcription factor binding	IEA Inferred from Electronic Annotation more info
enables bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables histone deacetylase binding	IEA Inferred from Electronic Annotation more info
enables histone deacetylase binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables transcription coregulator binding	IEA Inferred from Electronic Annotation more info
enables transcription coregulator binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in aortic valve morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in aortic valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell proliferation involved in heart valve development	IEA Inferred from Electronic Annotation more info
involved_in cell proliferation involved in heart valve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cranial suture morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cranial suture morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic camera-type eye formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic cranial skeleton morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic digit morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in embryonic hindlimb morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of energy homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in eyelid development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitral valve morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA damage response, signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cellular senescence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of peroxisome proliferator activated receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of peroxisome proliferator activated receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of striated muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in ossification	TAS Traceable Author Statement more info	PubMed
involved_in outer ear morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription initiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell motility	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell motility	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial to mesenchymal transition	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of fatty acid beta-oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-6 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of monocyte chemotactic protein-1 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: twist-related protein 1

Names: B-HLH DNA binding protein; H-twist; TWIST homolog of drosophila; class A basic helix-loop-helix protein 38; twist basic helix-loop-helix transcription factor 1; twist homolog 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.