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    Twist1 twist basic helix-loop-helix transcription factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 22160, updated on 9-Dec-2024

    Summary

    Official Symbol
    Twist1provided by MGI
    Official Full Name
    twist basic helix-loop-helix transcription factor 1provided by MGI
    Primary source
    MGI:MGI:98872
    See related
    Ensembl:ENSMUSG00000035799 AllianceGenome:MGI:98872
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pde; pdt; Ska10; Twist; M-Twist; bHLHa38; Ska<m10Jus>
    Summary
    Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. This gene encodes a bHLH transcription factor that is evolutionarily conserved from invertebrates to humans, and was originally identified in Drosophila as an essential gene involved in early mesoderm development and dorsal-ventral patterning in the embryo. This protein plays a role in cancer by regulating the epithelial-mesenchymal transition (EMT), a process that is critical for metastasis initiation, and promoting tumor progression. Mutations in the human gene are associated with Saethre-Chotzen syndrome (SCS). Mice with heterozygous mutations in this gene exhibit cranofacial and structural defects similar to those seen in human SCS patients. [provided by RefSeq, Sep 2015]
    Expression
    Biased expression in limb E14.5 (RPKM 91.2), CNS E11.5 (RPKM 22.7) and 6 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:
    12 A3; 12 14.81 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (34007670..34009830)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (33957671..33959831)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_31897 Neighboring gene high mobility group box 1-like pseudogene Neighboring gene predicted gene, 40383 Neighboring gene STARR-seq mESC enhancer starr_31899 Neighboring gene Fer3 like bHLH transcription factor Neighboring gene STARR-seq mESC enhancer starr_31900 Neighboring gene histone deacetylase 9 Neighboring gene predicted gene, 40384 Neighboring gene predicted gene, 51984

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC103391

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific TAS
    Traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription repressor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription repressor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables E-box binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables E-box binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables E-box binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables E-box binding TAS
    Traceable Author Statement
    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 bHLH transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cis-regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone deacetylase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription coregulator binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aortic valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in aortic valve morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cardiac neural crest cell development involved in outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cardiac neural crest cell migration involved in outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell proliferation involved in heart valve development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell proliferation involved in heart valve development ISO
    Inferred from Sequence Orthology
    more info
     
    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 cellular response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cranial suture morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cranial suture morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryonic camera-type eye formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic camera-type eye formation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic cranial skeleton morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic forelimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic hindlimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endocardial cushion morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of energy homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in eyelid development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eyelid development in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within hindlimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of macrophage cytokine production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in mitral valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA damage response, signal transduction by p53 class mediator ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cellular senescence IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cellular senescence ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of double-strand break repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of double-strand break repair ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of macrophage cytokine production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of miRNA transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of miRNA transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of molecular function IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of peroxisome proliferator activated receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of skeletal muscle tissue development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of striated muscle tissue development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of tumor necrosis factor production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription initiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription initiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of fatty acid beta-oxidation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of interleukin-6 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of interleukin-6 production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of monocyte chemotactic protein-1 production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of monocyte chemotactic protein-1 production ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of transcription regulatory region DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of tumor necrosis factor production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of bone mineralization ISO
    Inferred from Sequence Orthology
    more info
     
    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
     
    acts_upstream_of_or_within stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of tumor necrosis factor production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    twist-related protein 1
    Names
    Pluridigite
    charlie chaplin
    polydactyly EMS
    twist gene homolog 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.

    mRNA and Protein(s)

    1. NM_011658.2NP_035788.1  twist-related protein 1

      See identical proteins and their annotated locations for NP_035788.1

      Status: REVIEWED

      Source sequence(s)
      BC083139
      Consensus CDS
      CCDS25879.1
      UniProtKB/Swiss-Prot
      P26687
      Related
      ENSMUSP00000040089.6, ENSMUST00000049089.7
      Conserved Domains (1) summary
      pfam00010
      Location:113163
      HLH; Helix-loop-helix DNA-binding domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      34007670..34009830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)