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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

    BioGRID CRISPR Screen Phenotypes (21 hits/1283 screens)

    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)

    NEW Try the new Transcript table

    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_000474.4 → NP_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:109 → 159
      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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