Twist-related protein 1; class A basic helix-loop-helix protein 38; bHLHa38; H-twist (TWIST1, BHLHA38, TWIST)
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Function
- plays a role in the development of mesoderm in the embryo[3]
- acts as a transcriptional regulator
- inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, & inhibiting DNA-binding by MYOD1 through physical interaction
- this interaction probably involves the basic domains of both proteins
- represses expression of proinflammatory cytokines such as TNFA & IL1B
- regulates cranial suture patterning & fusion
- activates transcription as a heterodimer with E proteins
- regulates gene expression differentially, depending on dimer composition
- homodimers induce expression of FGFR2 & POSTN
- heterodimers repress FGFR2 & POSTN expression & induce THBS1 expression
- heterodimerization is also required for osteoblast differentiation
- 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 & thus determine the type of dimer formed (putative)
Structure
- contains 1 basic helix-loop-helix (bHLH) domain
Compartment
Expression
subset of mesodermal cells
Pathology
- defects in TWIST1 are a cause of Saethre-Chotzen syndrome
- defects in TWIST1 are the cause of
- TWIST1 is switched on in mouse breast cancer cells that metastasize
More general terms
Additional terms
References
- ↑ Wang et al. Gene 187:83-92, 1997
- ↑ Howard et al. Nature Genet 15:36-41, 1997
- ↑ 3.0 3.1 Journal Watch 24(18):146, 2004 Yang J, Mani SA, Donaher JL, Ramaswamy S, Itzykson RA, Come C, Savagner P, Gitelman I, Richardson A, Weinberg RA. Twist, a master regulator of morphogenesis, plays an essential role in tumor metastasis. Cell. 2004 Jun 25;117(7):927-39. PMID: https://www.ncbi.nlm.nih.gov/pubmed/15210113
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7291
- ↑ UniProt http://www.uniprot.org/uniprot/Q15672.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TWIST1
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7291
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7291
- OMIM: https://mirror.omim.org/entry/101400
- OMIM: https://mirror.omim.org/entry/123100
- OMIM: https://mirror.omim.org/entry/180750
- OMIM: https://mirror.omim.org/entry/601622
- UniProt: http://www.uniprot.org/uniprot/Q15672.html