Twist transcription factor

Twist homolog 1 (Drosophila)
Identifiers
Symbols TWIST1; ACS3; BPES2; BPES3; CRS1; SCS; TWIST; bHLHa38
External IDs OMIM601622 MGI98872 HomoloGene402 GeneCards: TWIST1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 7291 22160
Ensembl ENSG00000122691 ENSMUSG00000035799
UniProt Q15672 P26687
RefSeq (mRNA) NM_000474.3 NM_011658.2
RefSeq (protein) NP_000465.1 NP_035788.1
Location (UCSC) Chr 7:
19.06 – 19.16 Mb
Chr 12:
34.64 – 34.64 Mb
PubMed search [1] [2]

Twist transcription factor is a basic helix-loop-helix transcription factor associated with Saethre-Chotzen syndrome.

Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome.[1]

Contents

Interactions

Twist transcription factor has been shown to interact with EP300,[2] TCF3[3] and PCAF.[2]

References

  1. ^ "Entrez Gene: TWIST1 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7291. 
  2. ^ a b Hamamori, Y; Sartorelli V, Ogryzko V, Puri P L, Wu H Y, Wang J Y, Nakatani Y, Kedes L (Feb. 1999). "Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A". Cell (UNITED STATES) 96 (3): 405–13. doi:10.1016/S0092-8674(00)80553-X. ISSN 0092-8674. PMID 10025406. 
  3. ^ El Ghouzzi, V; Legeai-Mallet L, Aresta S, Benoist C, Munnich A, de Gunzburg J, Bonaventure J (Mar. 2000). "Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location". Hum. Mol. Genet. (ENGLAND) 9 (5): 813–9. doi:10.1093/hmg/9.5.813. ISSN 0964-6906. PMID 10749989. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.