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)
End	36,920,765 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	54,708,678 bp
RNA expression pattern
	Top expressed in
	corpus epididymis; ; caput epididymis; ; urethra; ; seminal vesicula; ; spinal ganglia; ; trigeminal ganglion; ; subthalamic nucleus; ; endometrium; ; superficial temporal artery; ; ganglionic eminence;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding ; GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity ; metal ion binding ; GO:0001948, GO:0016582 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 anatomical structure ; nucleoplasm ; nucleus ; cytoplasm ; cytosol ;
Biological process	ureteric bud development ; GO:0009373 regulation of transcription, DNA-templated ; SMAD protein signal transduction ; GO:1904579 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 ; GO:0007329 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

Last updated July 19, 2022

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]

Related Research Articles

Bone morphogenetic protein 8A (BMP8A) is a protein that in humans is encoded by the BMP8A gene.

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.

Mothers against decapentaplegic homolog 2 also known as SMAD family member 2 or SMAD2 is a protein that in humans is encoded by the SMAD2 gene. MAD homolog 2 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. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways.

Mothers against decapentaplegic homolog 3 also known as SMAD family member 3 or SMAD3 is a protein that in humans is encoded by the SMAD3 gene.

SMAD4, also called SMAD family member 4, Mothers against decapentaplegic homolog 4, or DPC4 is a highly conserved protein present in all metazoans. It belongs to the SMAD family of transcription factor proteins, which act as mediators of TGF-β signal transduction. The TGFβ family of cytokines regulates critical processes during the lifecycle of metazoans, with important roles during embryo development, tissue homeostasis, regeneration, and immune regulation.

SMAD family member 6, also known as SMAD6, is a protein that in humans is encoded by the SMAD6 gene.

Mothers against decapentaplegic homolog 5 also known as SMAD5 is a protein that in humans is encoded by the SMAD5 gene.

Mothers against decapentaplegic homolog 7 or SMAD7 is a protein that in humans is encoded by the SMAD7 gene.

The transforming growth factor beta (TGFB) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiation, cell migration, apoptosis, cellular homeostasis and other cellular functions. The TGFB signaling pathways are conserved. In spite of the wide range of cellular processes that the TGFβ signaling pathway regulates, the process is relatively simple. TGFβ superfamily ligands bind to a type II receptor, which recruits and phosphorylates a type I receptor. The type I receptor then phosphorylates receptor-regulated SMADs (R-SMADs) which can now bind the coSMAD SMAD4. R-SMAD/coSMAD complexes accumulate in the nucleus where they act as transcription factors and participate in the regulation of target gene expression.

Zinc finger FYVE domain-containing protein 9 or SARA is a protein that in humans is encoded by the ZFYVE9 gene. SARA contains a double zinc finger.

Bone morphogenetic protein receptor type II or BMPR2 is a serine/threonine receptor kinase. It binds Bone morphogenetic proteins, members of the TGF beta superfamily of ligands, which are involved in paracrine signalling. BMPs are involved in a host of cellular functions including osteogenesis, cell growth and cell differentiation. Signaling in the BMP pathway begins with the binding of a BMP to the type II receptor. This causes the recruitment of a BMP type I receptor, which it phosphorylates. The Type I receptor phosphorylates an R-SMAD a transcriptional regulator.

The bone morphogenetic protein receptor, type IA also known as BMPR1A is a protein which in humans is encoded by the BMPR1A gene. BMPR1A has also been designated as CD292.

Activin receptor type-1B is a protein that in humans is encoded by the ACVR1B gene.

Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ACVR1 gene; also known as ALK-2. ACVR1 has been linked to the 2q23-24 region of the genome. This protein is important in the bone morphogenic protein (BMP) pathway which is responsible for the development and repair of the skeletal system. While knock-out models with this gene are in progress, the ACVR1 gene has been connected to fibrodysplasia ossificans progressiva, a disease characterized by the formation of heterotopic bone throughout the body. It is a bone morphogenetic protein receptor, type 1.

Transforming growth factor beta receptor I is a membrane-bound TGF beta receptor protein of the TGF-beta receptor family for the TGF beta superfamily of signaling ligands. TGFBR1 is its human gene.

Bone morphogenetic protein receptor type-1B also known as CDw293 is a protein that in humans is encoded by the BMPR1B gene.

The SKI protein is a nuclear proto-oncogene that is associated with tumors at high cellular concentrations. SKI has been shown to interfere with normal cellular functioning by both directly impeding expression of certain genes inside the nucleus of the cell as well as disrupting signaling proteins that activate genes.

E3 SUMO-protein ligase PIAS4 is one of several protein inhibitor of activated STAT (PIAS) proteins. It is also known as protein inhibitor of activated STAT protein gamma, and is an enzyme that in humans is encoded by the PIAS4 gene.

Homeobox protein Hox-C8 is a protein that in humans is encoded by the HOXC8 gene.

Protein pellino homolog 1 is a protein that in humans is encoded by the PELI1 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000120693 - Ensembl, May 2017
1 2 3 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] 1 2 3 GRCh38: Ensembl release 89: ENSG00000120693 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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

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