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Mothers against decapentaplegic homolog 9

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
SMAD9
Identifiers
AliasesSMAD9, MADH6, MADH9, PPH2, SMAD8, SMAD8A, SMAD8B, SMAD8/9, SMAD family member 9
External IDsOMIM:603295;MGI:1859993;HomoloGene:21198;GeneCards:SMAD9;OMA:SMAD9 - orthologs
Gene location (Human)
Chromosome 13 (human)
Chr.Chromosome 13 (human)[1]
Chromosome 13 (human)
Genomic location for SMAD9
Genomic location for SMAD9
Band13q13.3Start36,844,831bp[1]
End36,920,765bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for SMAD9
Genomic location for SMAD9
Band3|3 CStart54,663,003bp[2]
End54,708,678bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • corpus epididymis

  • caput epididymis

  • urethra

  • tail of epididymis

  • seminal vesicula

  • spinal ganglia

  • trigeminal ganglion

  • subthalamic nucleus

  • endometrium

  • superficial temporal artery
Top expressed in
  • female urethra

  • yolk sac

  • primary visual cortex

  • genital tubercle

  • cerebellar cortex

  • superior frontal gyrus

  • lumbar subsegment of spinal cord

  • amnion

  • chorion

  • dentate gyrus of hippocampal formation granule cell
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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: 54.66 – 54.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mothers against decapentaplegic homolog 9 also known asSMAD9,SMAD8, andMADH6 is aprotein that in humans is encoded by theSMAD9 gene.[5]

SMAD9, as its name describes, is a homolog of theDrosophila gene: "Mothers against decapentaplegic". It belongs to theSMAD family of proteins, which belong to theTGFβ superfamily of modulators. Like many other TGFβ family members, SMAD9 is involved incell signalling. When abone morphogenetic protein binds to a receptor (BMP type 1 receptor kinase) it causes SMAD9 to interact withSMAD anchor for receptor activation (SARA).The binding of ligands causes thephosphorylation of the SMAD9 protein and the dissociation from SARA and the association withSMAD4. It is subsequently transferred to thenucleus where it forms complexes with other proteins and acts as atranscription factor. SMAD9 is areceptor regulated SMAD (R-SMAD) and is activated by bone morphogenetic protein type 1 receptor kinase. There are twoisoforms of the protein. Confusingly, it is also sometimes referred to as SMAD8 in the literature.

Nomenclature

[edit]

The SMAD proteins are homologs of both the drosophila protein, mothers against decapentaplegic (MAD) and theC. elegans protein SMA. The name is a combination of the two. DuringDrosophila 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

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000120693Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000027796Ensembl, 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
TGF beta superfamily of ligands
Ligand ofACVR orTGFBR
Ligand ofBMPR
TGF beta receptors
(Activin,BMP,family)
TGFBR1:
TGFBR2:
TGFBR3:
Transducers/SMAD
Ligand inhibitors
Coreceptors
Other
(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous
Type I
ALK1 (ACVRL1)
ALK2 (ACVR1A)
ALK3 (BMPR1A)
ALK4 (ACVR1B)
ALK5 (TGFβR1)
ALK6 (BMPR1B)
ALK7 (ACVR1C)
Type II
TGFβR2
BMPR2
ACVR2A (ACVR2)
ACVR2B
AMHR2 (AMHR)
Type III
TGFβR3 (β-glycan)
Unsorted


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