Gene content    
TWIST1 ( by HUGO)
Twist Family BHLH Transcription Factor 1
Oncogene
Twist Family BHLH Transcription Factor 1
TWIST
ACS3
BPES3
CRS
craniosynostosis
Twist Basic Helix-Loop-Helix Transcription Factor 1
Class A Basic Helix-Loop-Helix Protein 38
H-twist
bHLHa38
CRS1
SCS
Acrocephalosyndactyly 3
Blepharophimosis
Epicanthus Inversus And Ptosis 3
Saethre-Chotzen Syndrome
Twist Homolog 1 (Drosophila)
BPES2
B-HLH DNA Binding Protein
Twist Homolog 1
TWIST Homolog Of Drosophila
Twist-Related Protein 1
BHLHA38
NCBI: 7p21.2    Ensembl: 7p21.1
TWST1_HUMANSize: 202 amino acidsMass: 20954 Da

  • Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Homodimer or heterodimer with E proteins such as TCF3. ID1 binds preferentially to TCF3 but does not interact efficiently with TWIST1 so ID1 levels control the amount of TCF3 available to dimerize with TWIST1 and thus determine the type of dimer formed (By similarity)
  • Tissue specificity: Subset of mesodermal cells [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including TWIST1 (see all 6): Osteogenesis in human mouse rat WNT Signaling Targets in human mouse rat Breast Cancer in human mouse rat Cellular Senescence in human mouse
  • Function:
    UniProtKB/Swiss-Prot Summary: TWST1_HUMAN, Q15672 Function: Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation Gene Ontology (GO): Selected molecular function terms (see all 10): About this table GO ID Qualified GO term Evidence PubMed IDs GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IDA 17332325 GO:0003700 sequence-specific DNA binding transcription factor activity -- -- GO:0005515 protein binding IPI 18504427 GO:0008134 transcription factor binding IPI 15545268 GO:0019904 protein domain specific binding IEA -- [IMAGE] Find genes that share ontologies with TWIST1 About GenesLikeMe Phenotypes: 1 GenomeRNAi human phenotype for TWIST1: Synthetic lethal with Ras
  • Similarity:
    Contains 1 bHLH (basic helix-loop-helix) domain [IMAGE]

    • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR011598bHLH_domHelix-loop-helix DNA-bindingDomain
    BlocksIPB001092Basic helix-loop-helix dimerization domain bHLHBasic helix-loop-helix dimerization domain bHLH

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process cellular response to hypoxia IMP GOA 18297062
    cranial suture morphogenesis TAS GOA 11001584
    embryonic camera-type eye formation IMP GOA 17070479
    embryonic cranial skeleton morphogenesis IMP GOA 8988166
    embryonic digit morphogenesis TAS GOA 11001584
    eyelid development in camera-type eye IMP GOA 17070479
    negative regulation of cellular senescence IMP GOA 17690110
    negative regulation of DNA damage response, signal transduction by p53 class mediator IMP GOA 17690110
    negative regulation of histone phosphorylation IMP GOA 17690110
    negative regulation of osteoblast differentiation IMP GOA 16888803
    negative regulation of phosphatidylinositol 3-kinase signaling IMP GOA 17003487
    negative regulation of transcription from RNA polymerase II promoter IMP GOA 17690110
    ossification TAS GOA 11001584
    outer ear morphogenesis TAS GOA 11001584
    positive regulation of angiogenesis NAS GOA 17987801
    positive regulation of cell motility NAS GOA 17332324
    positive regulation of cell motility IMP GOA 17332325
    positive regulation of epithelial to mesenchymal transition IMP GOA 18297062
    positive regulation of gene expression IMP GOA 17003487
    positive regulation of transcription from RNA polymerase II promoter IMP GOA 12270142
    positive regulation of transcription from RNA polymerase II promoter IDA GOA 17332325
    regulation of bone mineralization IMP GOA 19597909
    transcription from RNA polymerase II promoter IDA GOA 17332325
    Cellular Component nucleus IDA GOA 10749989
    Molecular Function bHLH transcription factor binding IPI GOA 10749989
    E-box binding IDA GOA 17332325
    protein binding IPI GOA 18504427
    sequence-specific DNA binding RNA polymerase II transcription factor activity IDA GOA 17332325
    transcription factor binding IPI GOA 15545268

    Disorder & Mutation    
    Source Disease
    SWISS-PROTSaethre-Chotzen syndrome (SCS) [MIM:101400]: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. Note=The disease is caused by mutations affecting the gene represented in this entry
    SWISS-PROTRobinow-Sorauf syndrome (RSS) [MIM:180750]: An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux. Note=The disease is caused by mutations affecting the gene represented in this entry

    TWIST1 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene