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FLASH GENE
Symbol TWIST1 contributors: mct/pgu - updated : 02-07-2010
HGNC name twist homolog 1 (Drosophila)
HGNC id 12428
Corresponding disease
ACS3 acrocephalosyndactyly III, Saethre-Chotzen syndrome
BGS2 Baller-Gerold syndrome 2
CRS craniosynostosis, syndromatic 1
DEL7P21 chromosome 7p distal deletion, including TWIST1
ISCC isolated sagittal or coronal synostosis
Location 7p21.1      Physical location : 19.155.092 - 19.157.295
Synonym name
  • twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)
  • TWIST homolog of drosophila
  • blepharophimosis, epicanthus inversus and ptosis 3
  • blepharophimosis, epicanthus inversus, and ptosis 2
  • B-HLH DNA binding protein
    • Synonym symbol(s) BPES2, BPES3, TWIST, SCS
    DNA
    TYPE functioning gene
    STRUCTURE 2.21 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • hypoxia-response element (HRE) in the TWIST proximal promoter (HIF1A binding site
  • intronic hypoxia response elements of TWIST1 are regulated by EPAS1, but not HIF1A
    • MAPPING cloned Y linked Y status confirmed
    Map pter - D7S503 - D7S513 - D7S664 - D7S507 - D7S488 - D7S2559 - D7S1459 - D7S1400 - TWIST1 - D7S2495 - D7S638 - D7S654 - D7S493 - D7S629 - D7S682 - D7S673 - D7S529 - D7S516 - cen
    Physical map
    SNX13 7p21.3 sorting nexin 13 PRPS1L1 7p22-qter phosphoribosyl pyrophosphate synthetase 1-like 1 HDAC9 7p21-p15 histone deacetylase 9 FLJ20073 7q21.3 FLJ20073 protein FLJ39885 7q21.3 hypothetical protein FLJ39885 LOC392977 7 similar to TGF-beta receptor binding protein LOC253012 7q21.3 hypothetical protein LOC253012 FLJ20097 7q21.3 hypothetical protein FLJ20097 HDAC9 7p21-p15 histone deacetylase 9 CALCR 7q21.3 calcitonin receptor LOC392748 7 similar to ribosomal protein S27 TWIST1 7p21.2 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila) FERD3L 7p Fer3-like (Drosophila) LOC392954 7 similar to Protein C6orf66 (HSPC125) (My013 protein) NPM1P13 7p21.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 13 TFPI2 7q22 tissue factor pathway inhibitor 2 GNGT1 7q21.3 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 GNG11 7q21.3 guanine nucleotide binding protein (G protein), gamma 11 BET1 7q21.1-q22 BET1 homolog (S. cerevisiae) TWIST1 7p21.2 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila) FERD3L 7p Fer3-like (Drosophila) LOC392639 7 similar to TWIST neighbor MGC42090 7p21.1 hypothetical protein MGC42090 COL1A2 7q21.3 collagen, type I, alpha 2 KCND2 7q31-q32 potassium voltage-gated channel, Shal-related subfamily, member 2 CAS1 7q21.3 O-acetyltransferase RPL21 13pter-p13 ribosomal protein L21 SGCE 7q21.3 sarcoglycan, epsilon TWISTNB 7p21 TWIST neighbor MGC42090 7p21.1 hypothetical protein MGC42090 PEG10 7q21 paternally expressed 10 7A5 7p15.3 putative binding protein 7a5 LOC392955 7 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC392956 7 similar to dJ133P16.1 (ADP-ribosylation factor 1) ITGB8 7p integrin, beta 8 PPP1R9A 7q21 protein phosphatase 1, regulatory (inhibitor) subunit 9A TM4SF12 7 transmembrane 4 superfamily member 12 7A5 7p15.3 putative binding protein 7a5 LOC392870 7 similar to eukaryotic translation elongation factor 1 alpha 1; CTCL tumor antigen; translation elongation factor 1 alpha 1-like 14; prostate tumor-inducing protein 1; EF1a-like protein; glucocorticoid receptor AF-1 specific elongati ING3 7q31 inhibitor of growth family, member 3 ABCB5 7p14 ATP-binding cassette, sub-family B (MDR/TAP), member 5 FLJ21986 7q31.32 hypothetical protein FLJ21986
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1669 - 202 - 2009 19893041
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear    
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
    not specificadipocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text placenta, head and limb buds, skin, mesodermal and neural crest cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a basic DNA binding structure
  • two putative NLS motifs and these NLS sequences are potentially functional
  • a C terminal basic helix-loop-helix (HLH) domain with a stretch of glycine, GGC repeat, and anti-osteogenic C-terminus, the TWIST Box, which binds and inhibits RUNX2 transactivation
    • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Dermo1
    intraspecies homolog to TAL2
    Homologene
    FAMILY
  • BHLH family of transcription factors
    • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in osteoblast differentiation and maturation
  • interacting with the histone acetyltransferase domain of PCAF and EP300 and inhibiting their acetyltransferase
    • activities
  • regulator of embryonic morphogenesis and playing an essential role in metastasis by promoting an epithelial-mesenchymal transition
  • required for the dorsoventral patterning and for maintenance of the overlying apical ectodermal ridge
  • promotes survival and accumulation of fibroblasts by shaping their responsiveness to growth factor stimulation, and can promote pathogenic accumulation of fibroblasts in fibrotic lung disease
  • mediators of mesodermal tissue development and contribute to correct patterning of the skeleton
  • potential mediator of mesenchymal stromal/stem cells self-renewal and lineage commitment in postnatal skeletal tissues by exerting their effects on genes involved in the early stages of bone development
  • regulator of epithelial-mesenchymal transition(EMT)in lung fibrosis
  • may play a role in inflammation of white adipose tissue because it can regulate the expression and secretion of inflammatory adipokines via direct transcriptional effects in white adipocytes
  • may be a positive regulator of fatty acid oxidation in human white adipocytes
  • TWIST1 and BMI1 act cooperatively to repress expression of both E-cadherin and CDKN2A
  • directly activates BMI1 transcription by binding to the E-box in intron 1 of the BMI1 gene
  • TWIST1 and BMI1 are mutually essential to induce EMT and promote tumour-initiating capability in cancer cells
  • TWIST1 and SNAI2 act together to promote epithelial mesenchymal transition and tumor metastasis
  • master osteogenic regulator, and regulator in giant cell tumor of bone
    • CELLULAR PROCESS cell life, antiapoptosis
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text antiapoptotic role in calvarial osteoblasts
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with E12 protein
  • heterodimering with partner BHLH proteins and with HAND2 (coexpressed in distinct regions of the developing limb)
  • linked with SNAIL and TCF3 during embryonic development
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with RUNX1 in osteoblasts
  • binding to FGFR2 promoter and interacting with RUNX2
  • overexpression of WDR5 in the perichondrium promotes chondrocyte differentiation by modulating the expression of TWIST1 and FGF18
  • regulating with MSX2 the expression of EFNA4
  • interaction of TWIST1 with a novel protein candidate TCF4
  • direct regulation of BMI1 by TWIST1, and the functional interdependence between TWIST1 and BMI1, involved in promoting EMT and the tumour-initiating capability of head and neck cancer cells
  • SNAI1 controls ZEB1 expression at multiple levels and acts cooperatively with TWIST1 in the ZEB1 gene transcription induction
  • SETD8 acts as a dual epigenetic modifier on the promoters of the TWIST1 target genes CDH1 and CDH2 via its H4K20 monomethylation activity
  • TWIST1 regulation of IFNG depends on complex formation with RUNX3
    • cell & other
    REGULATION
    activated by thrombin (is required for thrombin-induced angiogenesis as measured by endothelial cell migration)
    induced by hypoxia (its expression in cancer cells is enhanced by hypoxia in a HEPAS1-dependent manner)
    ASSOCIATED DISORDERS
    corresponding disease(s) ACS3 , BGS2 , ISCC , DEL7P21 , CRS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    in breast carcinoma, gastric and lung cancer with metastasis
    tumoral     --over  
    in gliomas and promotes invasion
    tumoral     --low  
    by hypermethylation is observed frequently in colorectal tumors
    tumoral     --over  
    associated with unfavorable outcomes in patients with colorectal cancer
    tumoral somatic mutation      
    in giant cell tumor of bone, leading to inappropriate TWIST1 downregulation of RUNX2, arrested osteoblastic differentiation, and the maintenance of an immature and neoplastic phenotype (
    Susceptibility to breast cancer in women with Saethre-Chotzen syndrome
    Variant & Polymorphism
    Candidate gene DNA methylation markers of Gastric cancer (GC), which may serve as useful markers that may identify a distinct subset of GC
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • HIF-1alpha- and TWIST-null mice show similarities in their phenotypes