Mothers against decapentaplegic homolog 9

SMAD9
Identifiers
Aliases	SMAD9, MADH6, MADH9, PPH2, SMAD8, SMAD8A, SMAD8B, SMAD8/9, SMAD family member 9
External IDs	OMIM: 603295 MGI: 1859993 HomoloGene: 21198 GeneCards: SMAD9
Gene location (Human)
Chr.	Chromosome 13 (human)[1]
End	36,920,765 bp[1]
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)[2]
End	54,801,257 bp[2]
Gene ontology
Molecular function	• DNA binding; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • metal ion binding; • GO:0001948 protein binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	• SMAD protein complex; • transcription regulator complex; • intracellular; • nucleoplasm; • cell nucleus; • cytoplasm; • cytosol;
Biological process	• ureteric bud development; • regulation of transcription, DNA-templated; • SMAD protein signal transduction; • cellular response to organic cyclic compound; • hindbrain development; • cellular response to BMP stimulus; • BMP signaling pathway; • transcription, DNA-templated; • protein phosphorylation; • cartilage development; • bone development; • transforming growth factor beta receptor signaling pathway; • midbrain development; • positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus;
	Sources:Amigo / QuickGO
Orthologs
	4093
	55994
	ENSG00000120693
	ENSMUSG00000027796
	O15198
	Q9JIW5
	NM_001127217; NM_005905; NM_001378621
	NM_019483
	NP_001120689; NP_005896; NP_001365550
	NP_062356
	Wikidata
View/Edit Human	View/Edit Mouse

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, 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

GRCh38: Ensembl release 89: ENSG00000120693 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000027796 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"Sonic Hedgehog, DICER, and the Problem With Naming Genes", Sep 26, 2014, Michael White. psmag.com

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000120693 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9205116-5] 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