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SMAD family member 1

PDB rendering based on 1khu.
Available structures
1khu
Identifiers
Symbols SMAD1; BSP1; JV4-1; JV41; MADH1; MADR1
External IDs OMIM601595 MGI109452 HomoloGene21196 GeneCards: SMAD1 Gene
RNA expression pattern
PBB GE SMAD1 210993 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4086 17125
Ensembl ENSG00000170365 ENSMUSG00000031681
UniProt Q15797 Q6GT95
RefSeq (mRNA) NM_001003688 NM_008539
RefSeq (protein) NP_001003688 NP_032565
Location (UCSC) Chr 4:
146.62 - 146.7 Mb
Chr 8:
82.23 - 82.3 Mb
PubMed search [1] [2]

SMAD family member 1, also known as SMAD1, is a human gene.[1][2]

Contents

Nomenclature

The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The name is a combination of the two. It was found that a mutation in the 'Drosophila' gene, MAD, in the mother, repressed the gene, decapentaplegic, in the embryo. The phrase "Mothers against" was added as a humorous approach since mothers often form organizations opposing various issues eg. Mothers Against Drunk Driving or (MADD).

Function

SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed.[3]

SMAD1 is a receptor regulated SMAD (R-SMAD) and is activated by bone morphogenetic protein type 1 receptor kinase.

References

  1. ^ Hoodless PA, Haerry T, Abdollah S, Stapleton M, O'Connor MB, Attisano L, Wrana JL (May 1996). "MADR1, a MAD-related protein that functions in BMP2 signaling pathways". Cell 85 (4): 489–500. doi:10.1016/S0092-8674(00)81250-7. PMID 8653785.  
  2. ^ Riggins GJ, Thiagalingam S, Rozenblum E, Weinstein CL, Kern SE, Hamilton SR, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B (July 1996). "Mad-related genes in the human". Nat. Genet. 13 (3): 347–9. doi:10.1038/ng0796-347. PMID 8673135.  
  3. ^ "Entrez Gene: SMAD1 SMAD family member 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4086.  

External links

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

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