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

    Gene ID: 7291, updated on 12-Nov-2017
    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; Vega:OTTHUMG00000090821
    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. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Aug 2017]
    Orthologs
    Location:
    7p21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (19113047..19117672, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (19039315..19157295, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene histone deacetylase 9 Neighboring gene uncharacterized LOC105375176 Neighboring gene nucleophosmin 1 pseudogene 13 Neighboring gene uncharacterized LOC105375174 Neighboring gene Fer3 like bHLH transcription factor Neighboring gene uncharacterized LOC107986773

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Craniosynostosis 1
    MedGen: CN029978 OMIM: 123100 GeneReviews: Not available
    Compare labs
    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: CN570503 OMIM: 617746 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    NHGRI GWA Catalog
    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
    • HIF-2-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-2-alpha transcription factor network, organism-specific biosystem
      HIF-2-alpha transcription factor network
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interleukin-4 and 13 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-4 and 13 signaling, organism-specific biosystemInterleukin-4 (IL4) is a principal regulatory cytokine during the immune response, crucially important in allergy and asthma (Nelms et al. 1999). When resting T cells are antigen-activated and expand...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
      Notch-mediated HES/HEY network, organism-specific biosystem
      Notch-mediated HES/HEY network
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Transcription factor regulation in adipogenesis, organism-specific biosystem (from WikiPathways)
      Transcription factor regulation in adipogenesis, organism-specific biosystemThe transcription factors involved in adipogenesis are shown in the current pathway. Adipogensis is the biological proces of cell differentation in which preadipocytes are converted into adipocytes.
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    E-box binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bHLH transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    aortic valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac neural crest cell migration involved in outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation involved in heart valve development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cranial suture morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    embryonic camera-type eye formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic digit morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    embryonic forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endocardial cushion morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    eyelid development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    mitral valve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cellular senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of histone phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of oxidative phosphorylation uncoupler activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of peroxisome proliferator activated receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of phosphatidylinositol 3-kinase signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    odontogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    ossification TAS
    Traceable Author Statement
    more info
    PubMed 
    osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    outer ear morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    palate development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA-templated transcription, initiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of angiogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of cell motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell motility NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of interleukin-6 secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of monocyte chemotactic protein-1 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription regulatory region DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      5001..7205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000474.3NP_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
      Q15672
      Related
      ENSP00000242261.5, OTTHUMP00000116043, ENST00000242261.5, OTTHUMT00000207625
      Conserved Domains (1) summary
      pfam00010
      Location:109159
      HLH; Helix-loop-helix DNA-binding domain

    RNA

    1. NR_149001.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BC036704, BU619355, HY372340

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      19113047..19117672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515496.1XP_011513798.1  twist-related protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q15672
      Conserved Domains (1) summary
      pfam00010
      Location:109159
      HLH; Helix-loop-helix DNA-binding domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      19155871..19158073 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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