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

Gene ID: 7291, updated on 4-Jan-2025

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
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Genomic context

See TWIST1 in Genome Data Viewer
Location:
7p21.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (19113047..19117636, complement)
RS_2024_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_000007.14Genomic Context describing neighboring genes Neighboring gene histone deacetylase 9 Neighboring gene HDAC9 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:19029605-19030106 Neighboring gene nucleophosmin 1 pseudogene 13 Neighboring gene uncharacterized LOC124901597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:19156549-19157332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:19158406-19159269 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:19183777-19184976 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:19185442-19186090 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:19233822-19234359 Neighboring gene Fer3 like bHLH transcription factor Neighboring gene uncharacterized LOC107986773

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific  
enables DNA-binding transcription factor activity, RNA polymerase II-specific PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific  
enables DNA-binding transcription factor binding PubMed 
enables DNA-binding transcription repressor activity PubMed 
enables E-box binding PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding  
enables bHLH transcription factor binding PubMed 
enables cis-regulatory region sequence-specific DNA binding PubMed 
enables histone deacetylase binding  
enables protein binding PubMed 
enables protein domain specific binding  
enables protein homodimerization activity  
enables transcription coregulator binding  
Items 1 - 25 of 57
Process Evidence Code Pubs
involved_in aortic valve morphogenesis PubMed 
involved_in cardiac neural crest cell migration involved in outflow tract morphogenesis  
involved_in cell proliferation involved in heart valve development PubMed 
involved_in cellular response to growth factor stimulus  
involved_in cellular response to hypoxia PubMed 
involved_in cranial suture morphogenesis PubMed 
involved_in developmental process  
involved_in embryonic camera-type eye formation PubMed 
involved_in embryonic cranial skeleton morphogenesis PubMed 
involved_in embryonic digit morphogenesis PubMed 
involved_in embryonic forelimb morphogenesis  
involved_in embryonic hindlimb morphogenesis  
involved_in endocardial cushion morphogenesis  
acts_upstream_of energy homeostasis  
involved_in eyelid development in camera-type eye PubMed 
involved_in in utero embryonic development  
involved_in mitral valve morphogenesis  
involved_in muscle organ development  
involved_in negative regulation of DNA damage response, signal transduction by p53 class mediator PubMed 
involved_in negative regulation of DNA-templated transcription PubMed 
involved_in negative regulation of DNA-templated transcription  
involved_in negative regulation of apoptotic process  
involved_in negative regulation of cellular senescence PubMed 
involved_in negative regulation of double-strand break repair PubMed 
involved_in negative regulation of macrophage cytokine production  
involved_in negative regulation of miRNA transcription PubMed 
involved_in negative regulation of osteoblast differentiation PubMed 
involved_in negative regulation of peroxisome proliferator activated receptor signaling pathway  
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
involved_in negative regulation of skeletal muscle tissue development  
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in negative regulation of transcription by RNA polymerase II  
involved_in negative regulation of tumor necrosis factor production  
involved_in neural tube closure  
involved_in neuron migration  
involved_in ossification PubMed 
involved_in osteoblast differentiation  
involved_in outer ear morphogenesis PubMed 
involved_in positive regulation of DNA-templated transcription initiation PubMed 
involved_in positive regulation of angiogenesis PubMed 
involved_in positive regulation of cell migration PubMed 
involved_in positive regulation of cell motility PubMed 
involved_in positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation  
involved_in positive regulation of epithelial cell proliferation  
involved_in positive regulation of epithelial to mesenchymal transition PubMed 
involved_in positive regulation of fatty acid beta-oxidation PubMed 
involved_in positive regulation of gene expression PubMed 
involved_in positive regulation of interleukin-6 production PubMed 
involved_in positive regulation of monocyte chemotactic protein-1 production PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transcription regulatory region DNA binding PubMed 
involved_in positive regulation of tumor necrosis factor production PubMed 
involved_in regulation of bone mineralization PubMed 
involved_in regulation of transcription by RNA polymerase II  
involved_in rhythmic process  
involved_in roof of mouth development  
Items 1 - 25 of 57
Component Evidence Code Pubs
located_in chromatin  
located_in nucleoplasm  
located_in nucleus PubMed 

General protein information

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.

Genomic

  1. NG_008114.2 RefSeqGene

    Range
    5037..7205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000474.4NP_000465.1  twist-related protein 1

    See identical proteins and their annotated locations for NP_000465.1

    Status: REVIEWED

    Source sequence(s)
    AW173505, BC036704
    Consensus CDS
    CCDS5367.1
    UniProtKB/Swiss-Prot
    A4D128, Q15672, Q92487, Q99804
    Related
    ENSP00000242261.5, ENST00000242261.6
    Conserved Domains (1) summary
    pfam00010
    Location:109159
    HLH; Helix-loop-helix DNA-binding domain

RNA

  1. NR_149001.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BC036704, BU619355, HY372340

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    19113047..19117636 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    19242984..19247572 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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