GeneID: 100



Names

Common Name: SMAD1 Type: Gene
Chromosome: 4 (NC_000004.12) Locus: NG_042284.1 (SMAD1)
HUGO Symbol: SMAD1 Full Name: SMAD family member 1
Exons: 7 Introns: 6

Description:
SMAD1 is a member of the SMAD family of proteins, which act as transcriptional regulators in the transforming growth factor β (TGFβ) signalling pathway. The encoded protein belongs to the group of receptor-regulated SMADs (SMAD1, SMAD5 and SMAD9) activated by bone morphogenetic protein (BMP)-bound receptor kinases. BMPs are signalling molecules that belong to the TGFβ family of proteins and participate in several processes including cell growth, development, morphogenesis, apoptosis and immune responses. The phosphorylated form of this protein associates with the common-mediator SMAD4 in the cytoplasm to form an active complex, which in turn translocates to the nucleus to modulate the transcription of target genes. This protein is targeted by HECT-type E3 ubiquitin ligases, such as SMURF1 and SMURF2 for ubiquitination and proteasomal degradation. Polymorphisms in this gene associated with acute chest syndrome in sickle cell patients. Alternatively spliced transcript variants encoding the same protein have been observed.

Synonyms: JV4-1 , MADR1 , MADH1

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Heldin CH, Miyazono K, ten Dijke P, TGF-beta signalling from cell membrane to nucleus through SMAD proteins., Nature , 390(6659), 465-71, 1997 PubMed
  2. Izzi L, Attisano L, Regulation of the TGFbeta signalling pathway by ubiquitin-mediated degradation., Oncogene , 23(11), 2071-8, 2004 PubMed
  3. Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010 PubMed
Created on 2016-04-27 11:07:26, Last reviewed on (Show full history)


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