U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 7291, updated on 21-Feb-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TWIST1 in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (19113047..19117636, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (19242984..19247572, complement)
    105.20220307 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: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 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 RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in aortic valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac neural crest cell migration involved in outflow tract morphogenesis 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 growth factor stimulus 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 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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic digit morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in embryonic forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cushion 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 in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitral valve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle organ development 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of apoptotic process 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 macrophage cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 negative regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ossification TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 cell proliferation 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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription regulatory region DNA binding 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
     
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    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_000474.4NP_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_2023_10

    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)