Mothers against decapentaplegic homolog 9

Mothers against decapentaplegic homolog 9 also known as SMAD9, SMAD8, and MADH6 is a protein that in humans is encoded by the SMAD9 gene.[5]

SMAD9
Identifiers
AliasesSMAD9, MADH6, MADH9, PPH2, SMAD8, SMAD8A, SMAD8B, SMAD8/9, SMAD family member 9
External IDsOMIM: 603295 MGI: 1859993 HomoloGene: 21198 GeneCards: SMAD9
Gene location (Human)
Chr.Chromosome 13 (human)[1]
Band13q13.3Start36,844,831 bp[1]
End36,920,765 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

4093

55994

Ensembl

ENSG00000120693

ENSMUSG00000027796

UniProt

O15198

Q9JIW5

RefSeq (mRNA)

NM_001127217
NM_005905
NM_001378621

NM_019483

RefSeq (protein)

NP_001120689
NP_005896
NP_001365550

NP_062356

Location (UCSC)Chr 13: 36.84 – 36.92 MbChr 3: 54.76 – 54.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

SMAD9, as its name describes, is a homolog of the Drosophila gene: "Mothers against decapentaplegic". It belongs to the SMAD family of proteins, which belong to the TGFβ superfamily of modulators. Like many other TGFβ family members, SMAD9 is involved in cell signalling. When a bone morphogenetic protein binds to a receptor (BMP type 1 receptor kinase) it causes SMAD9 to interact with SMAD anchor for receptor activation (SARA).The binding of ligands causes the phosphorylation of the SMAD9 protein and the dissociation from SARA and the association with SMAD4. It is subsequently transferred to the nucleus where it forms complexes with other proteins and acts as a transcription factor. SMAD9 is a receptor regulated SMAD (R-SMAD) and is activated by bone morphogenetic protein type 1 receptor kinase. There are two isoforms of the protein. Confusingly, it is also sometimes referred to as SMAD8 in the literature.

Nomenclature

The SMAD proteins are homologs of both the drosophila protein, mothers against decapentaplegic (MAD) and the C. elegans protein SMA. The name is a combination of the two. During Drosophila research, it was found that a mutation in the gene, MAD, in the mother, repressed the gene, decapentaplegic, in the embryo. The phrase "Mothers against" was added since mothers often form organizations opposing various issues e.g. Mothers Against Drunk Driving or (MADD); and based on a tradition of such unusual naming within the gene research community.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000120693 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000027796 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Watanabe TK, Suzuki M, Omori Y, Hishigaki H, Horie M, Kanemoto N, Fujiwara T, Nakamura Y, Takahashi E (June 1997). "Cloning and characterization of a novel member of the human Mad gene family (MADH6)". Genomics. 42 (3): 446–51. doi:10.1006/geno.1997.4753. PMID 9205116.
  6. "Sonic Hedgehog, DICER, and the Problem With Naming Genes", Sep 26, 2014, Michael White. psmag.com


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