Mothers against decapentaplegic homolog 1

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SMAD1
Protein SMAD1 PDB 1khu.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SMAD1, BSP-1, BSP1, JV4-1, JV41, MADH1, MADR1, SMAD family member 1
External IDs OMIM: 601595 MGI: 109452 HomoloGene: 21196 GeneCards: 4086
RNA expression pattern
PBB GE SMAD1 210993 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001003688
NM_005900

NM_008539

RefSeq (protein)

NP_001003688.1
NP_005891.1

NP_032565.2

Location (UCSC) Chr 4: 145.48 – 145.56 Mb Chr 8: 79.34 – 79.4 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Mothers against decapentaplegic homolog 1 also known as SMAD family member 1 or SMAD1 is a protein that in humans is encoded by the SMAD1 gene.[3][4]

Nomenclature[edit]

SMAD1 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.[citation needed] The name is a combination of the two; and based on a tradition of such unusual naming within the gene research community.[5]

It was found that a mutation in the 'Drosophila' gene, MAD, in the mother, repressed the gene, decapentaplegic, in the embryo. Mad mutations can be placed in an allelic series based on the relative severity of the maternal effect enhancement of weak dpp alleles, thus explaining the name Mothers against dpp.[6]

Function[edit]

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.[7]

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

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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". Nature Genetics. 13 (3): 347–9. doi:10.1038/ng0796-347. PMID 8673135. 
  5. ^ "Sonic Hedgehog, DICER, and the Problem With Naming Genes", Sep 26, 2014, Michael White. psmag.com
  6. ^ "Interactive fly, Drosophila". 
  7. ^ "Entrez Gene: SMAD1 SMAD family member 1". 

External links[edit]

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