GeneID: 96



Names

Common Name: SMURF1 Type: Gene
Chromosome: 7 (NC_000007.14) Locus: N/A
HUGO Symbol: SMURF1 Full Name: SMAD specific E3 ubiquitin protein ligase 1
Exons: 19 Introns: 18

Description:
The SMURF1 gene encodes an E3 ubiquitin ligase, homologous to the HECT-type E3s, which mediate protein degradation via the ubiquitin-proteasome pathway. Members of this family are characterized by an N-terminal domain that determines protein substrate specificity and a C-terminal HECT domain that catalyses ubiquitin transfer onto target proteins. The encoded protein targets SMAD1 and SMAD5, which are receptor-regulated SMAD proteins specific for the bone morphogenetic protein (BMP) signalling pathway. It also targets a master regulator of osteoblast differentiation, Runx2, as well as TRAF family members and the GTPase RHoA. It plays a criticial role in cell mobility and polarity, cell growth, embryonic development and bone homeostasis. Polymorphisms in this gene associated with leg ulceration in sickle cell patients. Alternative splicing results in multiple transcript variants encoding different isoforms.

Synonyms: KIAA1625

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Zhu H, Kavsak P, Abdollah S, Wrana JL, Thomsen GH, A SMAD ubiquitin ligase targets the BMP pathway and affects embryonic pattern formation., Nature , 400(6745), 687-93, 1999 PubMed
  2. Nolan VG, Adewoye A, Baldwin C, Wang L, Ma Q, Wyszynski DF, Farrell JJ, Sebastiani P, Farrer LA, Steinberg MH, Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway., Br. J. Haematol. , 133(5), 570-8, 2006 PubMed
  3. Li S, Lu K, Wang J, An L, Yang G, Chen H, Cui Y, Yin X, Xie P, Xing G, He F, Zhang L, Ubiquitin ligase Smurf1 targets TRAF family proteins for ubiquitination and degradation., Mol. Cell. Biochem. , 338(1), 11-7, 2010 PubMed
Created on 2016-04-27 09:38:19, Last reviewed on 2016-05-16 10:53:47 (Show full history)


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