TWIST1


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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
twist family bHLH transcription factor 1MIM:601622Ensembl:ENSG00000122691HGNC:HGNC:12428PA370887p21.1

GO terms in TWIST1


Term TypeEvidence TypeGO Term IDGO Des.
MFIDAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFISAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFISMGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFNASGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFIPIGO:0005515protein binding
MFIPIGO:0008134transcription factor binding
MFIEAGO:0019904protein domain specific binding
MFIEAGO:0042803protein homodimerization activity
MFIPIGO:0043425bHLH transcription factor binding
MFIEAGO:0046982protein heterodimerization activity
MFIDAGO:0070888E-box binding
CCIDAGO:0005634nucleus
CCTASGO:0005654nucleoplasm
BPIMPGO:0000122negative regulation of transcription by RNA polymerase II
BPTASGO:0001503ossification
BPIEAGO:0001649osteoblast differentiation
BPIEAGO:0001701in utero embryonic development
BPIEAGO:0001764neuron migration
BPIEAGO:0001843neural tube closure
BPIMPGO:0003180aortic valve morphogenesis
BPIEAGO:0003183mitral valve morphogenesis
BPIEAGO:0003203endocardial cushion morphogenesis
BPIEAGO:0003253cardiac neural crest cell migration involved in outflow tract morphogenesis
BPIEAGO:0006351transcription, DNA-templated
BPIEAGO:0007517muscle organ development
BPIMPGO:0010628positive regulation of gene expression
BPIMPGO:0010718positive regulation of epithelial to mesenchymal transition
BPIMPGO:0014067negative regulation of phosphatidylinositol 3-kinase signaling
BPTASGO:0019221cytokine-mediated signaling pathway
BPIMPGO:0030500regulation of bone mineralization
BPIMPGO:0032000positive regulation of fatty acid beta-oxidation
BPIEAGO:0032720negative regulation of tumor necrosis factor production
BPIMPGO:0032760positive regulation of tumor necrosis factor production
BPIMPGO:0033128negative regulation of histone phosphorylation
BPIEAGO:0035067negative regulation of histone acetylation
BPIEAGO:0035115embryonic forelimb morphogenesis
BPIEAGO:0035116embryonic hindlimb morphogenesis
BPIEAGO:0035359negative regulation of peroxisome proliferator activated receptor signaling pathway
BPTASGO:0042473outer ear morphogenesis
BPIEAGO:0042476odontogenesis
BPTASGO:0042733embryonic digit morphogenesis
BPIEAGO:0043066negative regulation of apoptotic process
BPIEAGO:0043433negative regulation of DNA-binding transcription factor activity
BPIMPGO:0043518negative regulation of DNA damage response, signal transduction by p53 class mediator
BPIMPGO:0045668negative regulation of osteoblast differentiation
BPNASGO:0045766positive regulation of angiogenesis
BPIDAGO:0045892negative regulation of transcription, DNA-templated
BPISSGO:0045892negative regulation of transcription, DNA-templated
BPIDAGO:0045944positive regulation of transcription by RNA polymerase II
BPIMPGO:0045944positive regulation of transcription by RNA polymerase II
BPIEAGO:0048511rhythmic process
BPIEAGO:0048642negative regulation of skeletal muscle tissue development
BPIMPGO:0048701embryonic cranial skeleton morphogenesis
BPIEAGO:0050679positive regulation of epithelial cell proliferation
BPIEAGO:0060021roof of mouth development
BPTASGO:0060363cranial suture morphogenesis
BPIMPGO:0060900embryonic camera-type eye formation
BPIMPGO:0061029eyelid development in camera-type eye
BPIEAGO:0071363cellular response to growth factor stimulus
BPIMPGO:0071456cellular response to hypoxia
BPIMPGO:0071639positive regulation of monocyte chemotactic protein-1 production
BPIDAGO:2000144positive regulation of DNA-templated transcription, initiation
BPIMPGO:2000147positive regulation of cell motility
BPNASGO:2000147positive regulation of cell motility
BPIEAGO:2000276negative regulation of oxidative phosphorylation uncoupler activity
BPIMPGO:2000679positive regulation of transcription regulatory region DNA binding
BPIMPGO:2000773negative regulation of cellular senescence
BPIMPGO:2000778positive regulation of interleukin-6 secretion
BPIMPGO:2000780negative regulation of double-strand break repair
BPIMPGO:2000793cell proliferation involved in heart valve development
BPIEAGO:2000802positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation

Gene expression in normal tissue: TWIST1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TWIST1


DatabasePathway IDPathway Des.
reactomeR-HSA-1280215Cytokine Signaling in Immune system
reactomeR-HSA-168256Immune System
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-449147Signaling by Interleukins
reactomeR-HSA-6785807Interleukin-4 and Interleukin-13 signaling
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-8878166Transcriptional regulation by RUNX2
reactomeR-HSA-8878166Transcriptional regulation by RUNX2
reactomeR-HSA-8939902Regulation of RUNX2 expression and activity
reactomeR-HSA-8939902Regulation of RUNX2 expression and activity
biocartaarfpathwaytumor suppressor arf inhibits ribosomal biogenesis
kegghsa05205Proteoglycans in cancer - Homo sapiens (human)
pidhes_heypathwayNotch-mediated HES/HEY network
pidhif2pathwayHIF-2-alpha transcription factor network
wikipathwaysWP2064Neural Crest Differentiation
wikipathwaysWP236Adipogenesis
wikipathwaysWP2593JAK-STAT
wikipathwaysWP3599Transcription factor regulation in adipogenesis
wikipathwaysWP3967miR-509-3p alteration of YAP1-ECM axis
wikipathwaysWP4066Interleukin-4 and 13 signaling
wikipathwaysWP4239EMT transition in Colorectal Cancer
wikipathwaysWP437EGF-EGFR Signaling Pathway

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD173Epothilone B1
iGMDRD456Crizotinib1
iGMDRD88AICA ribonucleotide1
iGMDRD289Parthenolide1
iGMDRD79Gemcitabine1
iGMDRD187BRD98761
iGMDRD311Dacinostat1
iGMDRD189CGP 604741
iGMDRD185DMOG1
iGMDRD778SCHEMBL135867081
iGMDRD595PLX40321
iGMDRD96S-Trityl-L-cysteine1
iGMDRD421AZD77621

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TWIST1

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