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Twist-related protein 1; class A basic helix-loop-helix protein 38; bHLHa38; H-twist (TWIST1, BHLHA38, TWIST)

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: nucleus Expression: subset of mesodermal cells Pathology: - defects in TWIST1 are a cause of Saethre-Chotzen syndrome - defects in TWIST1 are the cause of a) Robinow-Sorauf syndrome b) craniosynostosis type 1 - TWIST1 is switched on in mouse breast cancer cells that metastasize

Related

twist gene twist-related protein

General

basic helix loop helix (bHLH) family transcription factor

Properties

SIZE: entity length = 202 aa MW = 21 kD COMPARTMENT: cell nucleus MOTIF: glycine-rich region {80-98} DNA-binding motif SITE: 108-120 helix-loop-helix NAME: helix-loop-helix SITE: 121-160 FOR-BINDING-VIA: helix-loop-helix Sufficient for transactivation activity {161-191}

Database Correlations

OMIM correlations MORBIDMAP 601622 UniProt Q15672 Pfam PF00010 Entrez Gene 7291 Kegg hsa:7291

References

  1. Wang et al. Gene 187:83-92, 1997
  2. Howard et al. Nature Genet 15:36-41, 1997
  3. 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: 15210113
  4. Entrez Gene :accession 7291
  5. UniProt :accession Q15672
  6. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TWIST1