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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| twist family bHLH transcription factor 1 | MIM:601622 | Ensembl:ENSG00000122691 | HGNC:HGNC:12428 | PA37088 | 7p21.1 |
GO terms in TWIST1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008134 | transcription factor binding |
| MF | IEA | GO:0019904 | protein domain specific binding |
| MF | IEA | GO:0042803 | protein homodimerization activity |
| MF | IPI | GO:0043425 | bHLH transcription factor binding |
| MF | IEA | GO:0046982 | protein heterodimerization activity |
| MF | IDA | GO:0070888 | E-box binding |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| BP | IMP | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0001503 | ossification |
| BP | IEA | GO:0001649 | osteoblast differentiation |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001764 | neuron migration |
| BP | IEA | GO:0001843 | neural tube closure |
| BP | IMP | GO:0003180 | aortic valve morphogenesis |
| BP | IEA | GO:0003183 | mitral valve morphogenesis |
| BP | IEA | GO:0003203 | endocardial cushion morphogenesis |
| BP | IEA | GO:0003253 | cardiac neural crest cell migration involved in outflow tract morphogenesis |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0007517 | muscle organ development |
| BP | IMP | GO:0010628 | positive regulation of gene expression |
| BP | IMP | GO:0010718 | positive regulation of epithelial to mesenchymal transition |
| BP | IMP | GO:0014067 | negative regulation of phosphatidylinositol 3-kinase signaling |
| BP | TAS | GO:0019221 | cytokine-mediated signaling pathway |
| BP | IMP | GO:0030500 | regulation of bone mineralization |
| BP | IMP | GO:0032000 | positive regulation of fatty acid beta-oxidation |
| BP | IEA | GO:0032720 | negative regulation of tumor necrosis factor production |
| BP | IMP | GO:0032760 | positive regulation of tumor necrosis factor production |
| BP | IMP | GO:0033128 | negative regulation of histone phosphorylation |
| BP | IEA | GO:0035067 | negative regulation of histone acetylation |
| BP | IEA | GO:0035115 | embryonic forelimb morphogenesis |
| BP | IEA | GO:0035116 | embryonic hindlimb morphogenesis |
| BP | IEA | GO:0035359 | negative regulation of peroxisome proliferator activated receptor signaling pathway |
| BP | TAS | GO:0042473 | outer ear morphogenesis |
| BP | IEA | GO:0042476 | odontogenesis |
| BP | TAS | GO:0042733 | embryonic digit morphogenesis |
| BP | IEA | GO:0043066 | negative regulation of apoptotic process |
| BP | IEA | GO:0043433 | negative regulation of DNA-binding transcription factor activity |
| BP | IMP | GO:0043518 | negative regulation of DNA damage response, signal transduction by p53 class mediator |
| BP | IMP | GO:0045668 | negative regulation of osteoblast differentiation |
| BP | NAS | GO:0045766 | positive regulation of angiogenesis |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | ISS | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048511 | rhythmic process |
| BP | IEA | GO:0048642 | negative regulation of skeletal muscle tissue development |
| BP | IMP | GO:0048701 | embryonic cranial skeleton morphogenesis |
| BP | IEA | GO:0050679 | positive regulation of epithelial cell proliferation |
| BP | IEA | GO:0060021 | roof of mouth development |
| BP | TAS | GO:0060363 | cranial suture morphogenesis |
| BP | IMP | GO:0060900 | embryonic camera-type eye formation |
| BP | IMP | GO:0061029 | eyelid development in camera-type eye |
| BP | IEA | GO:0071363 | cellular response to growth factor stimulus |
| BP | IMP | GO:0071456 | cellular response to hypoxia |
| BP | IMP | GO:0071639 | positive regulation of monocyte chemotactic protein-1 production |
| BP | IDA | GO:2000144 | positive regulation of DNA-templated transcription, initiation |
| BP | IMP | GO:2000147 | positive regulation of cell motility |
| BP | NAS | GO:2000147 | positive regulation of cell motility |
| BP | IEA | GO:2000276 | negative regulation of oxidative phosphorylation uncoupler activity |
| BP | IMP | GO:2000679 | positive regulation of transcription regulatory region DNA binding |
| BP | IMP | GO:2000773 | negative regulation of cellular senescence |
| BP | IMP | GO:2000778 | positive regulation of interleukin-6 secretion |
| BP | IMP | GO:2000780 | negative regulation of double-strand break repair |
| BP | IMP | GO:2000793 | cell proliferation involved in heart valve development |
| BP | IEA | GO:2000802 | positive 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
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-6785807 | Interleukin-4 and Interleukin-13 signaling |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8939902 | Regulation of RUNX2 expression and activity |
| reactome | R-HSA-8939902 | Regulation of RUNX2 expression and activity |
| biocarta | arfpathway | tumor suppressor arf inhibits ribosomal biogenesis |
| kegg | hsa05205 | Proteoglycans in cancer - Homo sapiens (human) |
| pid | hes_heypathway | Notch-mediated HES/HEY network |
| pid | hif2pathway | HIF-2-alpha transcription factor network |
| wikipathways | WP2064 | Neural Crest Differentiation |
| wikipathways | WP236 | Adipogenesis |
| wikipathways | WP2593 | JAK-STAT |
| wikipathways | WP3599 | Transcription factor regulation in adipogenesis |
| wikipathways | WP3967 | miR-509-3p alteration of YAP1-ECM axis |
| wikipathways | WP4066 | Interleukin-4 and 13 signaling |
| wikipathways | WP4239 | EMT transition in Colorectal Cancer |
| wikipathways | WP437 | EGF-EGFR Signaling Pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD173 | Epothilone B | 1 |
| iGMDRD456 | Crizotinib | 1 |
| iGMDRD88 | AICA ribonucleotide | 1 |
| iGMDRD289 | Parthenolide | 1 |
| iGMDRD79 | Gemcitabine | 1 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD311 | Dacinostat | 1 |
| iGMDRD189 | CGP 60474 | 1 |
| iGMDRD185 | DMOG | 1 |
| iGMDRD778 | SCHEMBL13586708 | 1 |
| iGMDRD595 | PLX4032 | 1 |
| iGMDRD96 | S-Trityl-L-cysteine | 1 |
| iGMDRD421 | AZD7762 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TWIST1
CLASSFICATION
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