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O15198

- SMAD9_HUMAN

UniProt

O15198 - SMAD9_HUMAN

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Protein

Mothers against decapentaplegic homolog 9

Gene

SMAD9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi68 – 681ZincBy similarity
Metal bindingi113 – 1131ZincBy similarity
Metal bindingi125 – 1251ZincBy similarity
Metal bindingi130 – 1301ZincBy similarity

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW
  3. sequence-specific DNA binding transcription factor activity Source: InterPro
  4. transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity Source: BHF-UCL

GO - Biological processi

  1. BMP signaling pathway Source: BHF-UCL
  2. bone development Source: Ensembl
  3. cartilage development Source: Ensembl
  4. cellular response to organic cyclic compound Source: Ensembl
  5. hindbrain development Source: Ensembl
  6. intracellular signal transduction Source: GOC
  7. midbrain development Source: Ensembl
  8. Mullerian duct regression Source: Ensembl
  9. positive regulation of cell differentiation Source: Ensembl
  10. positive regulation of transcription, DNA-templated Source: Ensembl
  11. protein phosphorylation Source: Ensembl
  12. response to hypoxia Source: Ensembl
  13. transcription, DNA-templated Source: UniProtKB-KW
  14. transforming growth factor beta receptor signaling pathway Source: InterPro
  15. ureteric bud development Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_12034. Signaling by BMP.

Names & Taxonomyi

Protein namesi
Recommended name:
Mothers against decapentaplegic homolog 9
Short name:
MAD homolog 9
Short name:
Mothers against DPP homolog 9
Alternative name(s):
Madh6
SMAD family member 9
Short name:
SMAD 9
Short name:
Smad9
Gene namesi
Name:SMAD9
Synonyms:MADH6, MADH9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:6774. SMAD9.

Subcellular locationi

Cytoplasm By similarity. Nucleus By similarity
Note: In the cytoplasm in the absence of ligand. Migration to the nucleus when complexed with SMAD4 (By similarity).By similarity

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. intracellular Source: ProtInc
  3. nucleoplasm Source: Reactome
  4. nucleus Source: BHF-UCL
  5. transcription factor complex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Pulmonary hypertension, primary, 2 (PPH2) [MIM:615342]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.1 Publication
Note: The disease may be caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431K → E in PPH2; affects SMAD-mediated signaling. 1 Publication
VAR_066871

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615342. phenotype.
Orphaneti275777. Heritable pulmonary arterial hypertension.
PharmGKBiPA30531.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 467467Mothers against decapentaplegic homolog 9PRO_0000090875Add
BLAST

Post-translational modificationi

Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO15198.
PaxDbiO15198.
PRIDEiO15198.

PTM databases

PhosphoSiteiO15198.

Expressioni

Tissue specificityi

Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney.

Gene expression databases

BgeeiO15198.
CleanExiHS_SMAD9.
GenevestigatoriO15198.

Organism-specific databases

HPAiCAB009119.

Interactioni

Subunit structurei

Interaction with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit.

Binary interactionsi

WithEntry#Exp.IntActNotes
KDM1AO603412EBI-748763,EBI-710124
PRMT6Q96LA82EBI-748763,EBI-912440

Protein-protein interaction databases

BioGridi110268. 112 interactions.
IntActiO15198. 99 interactions.
MINTiMINT-1179670.
STRINGi9606.ENSP00000369154.

Structurei

3D structure databases

ProteinModelPortaliO15198.
SMRiO15198. Positions 13-136, 270-467.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini16 – 140125MH1PROSITE-ProRule annotationAdd
BLAST
Domaini273 – 467195MH2PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi43 – 497Poly-Lys

Sequence similaritiesi

Belongs to the dwarfin/SMAD family.Curated
Contains 1 MH1 (MAD homology 1) domain.PROSITE-ProRule annotation
Contains 1 MH2 (MAD homology 2) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG330956.
GeneTreeiENSGT00760000119091.
HOGENOMiHOG000286018.
HOVERGENiHBG053353.
InParanoidiO15198.
KOiK16791.
OMAiFQQPPCP.
OrthoDBiEOG7W1540.
PhylomeDBiO15198.
TreeFamiTF314923.

Family and domain databases

Gene3Di2.60.200.10. 1 hit.
3.90.520.10. 1 hit.
InterProiIPR013790. Dwarfin.
IPR003619. MAD_homology1_Dwarfin-type.
IPR013019. MAD_homology_MH1.
IPR017855. SMAD_dom-like.
IPR001132. SMAD_dom_Dwarfin-type.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PANTHERiPTHR13703. PTHR13703. 1 hit.
PfamiPF03165. MH1. 1 hit.
PF03166. MH2. 1 hit.
[Graphical view]
SMARTiSM00523. DWA. 1 hit.
SM00524. DWB. 1 hit.
[Graphical view]
SUPFAMiSSF49879. SSF49879. 1 hit.
SSF56366. SSF56366. 1 hit.
PROSITEiPS51075. MH1. 1 hit.
PS51076. MH2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform A (identifier: O15198-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MHSTTPISSL FSFTSPAVKR LLGWKQGDEE EKWAEKAVDS LVKKLKKKKG
60 70 80 90 100
AMDELERALS CPGQPSKCVT IPRSLDGRLQ VSHRKGLPHV IYCRVWRWPD
110 120 130 140 150
LQSHHELKPL ECCEFPFGSK QKEVCINPYH YRRVETPVLP PVLVPRHSEY
160 170 180 190 200
NPQLSLLAKF RSASLHSEPL MPHNATYPDS FQQPPCSALP PSPSHAFSQS
210 220 230 240 250
PCTASYPHSP GSPSEPESPY QHSVDTPPLP YHATEASETQ SGQPVDATAD
260 270 280 290 300
RHVVLSIPNG DFRPVCYEEP QHWCSVAYYE LNNRVGETFQ ASSRSVLIDG
310 320 330 340 350
FTDPSNNRNR FCLGLLSNVN RNSTIENTRR HIGKGVHLYY VGGEVYAECV
360 370 380 390 400
SDSSIFVQSR NCNYQHGFHP ATVCKIPSGC SLKVFNNQLF AQLLAQSVHH
410 420 430 440 450
GFEVVYELTK MCTIRMSFVK GWGAEYHRQD VTSTPCWIEI HLHGPLQWLD
460
KVLTQMGSPH NPISSVS
Length:467
Mass (Da):52,493
Last modified:January 1, 1998 - v1
Checksum:iCFC8F982945BC6DD
GO
Isoform B (identifier: O15198-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     224-260: Missing.

Show »
Length:430
Mass (Da):48,640
Checksum:i6C9E4BB90DEB4B1B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431K → E in PPH2; affects SMAD-mediated signaling. 1 Publication
VAR_066871

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei224 – 26037Missing in isoform B. 2 PublicationsVSP_006182Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D83760 mRNA. Translation: BAA21128.1.
D83761 mRNA. Translation: BAA21129.1.
AL138706 Genomic DNA. Translation: CAI14007.1.
AL138706 Genomic DNA. Translation: CAM19158.1.
CH471075 Genomic DNA. Translation: EAX08571.1.
CH471075 Genomic DNA. Translation: EAX08572.1.
BC011559 mRNA. Translation: AAH11559.1.
BC104760 mRNA. Translation: AAI04761.1.
BC104762 mRNA. Translation: AAI04763.1.
BC143240 mRNA. Translation: AAI43241.1.
CCDSiCCDS45032.1. [O15198-1]
CCDS9360.1. [O15198-2]
RefSeqiNP_001120689.1. NM_001127217.2. [O15198-1]
NP_005896.1. NM_005905.5. [O15198-2]
UniGeneiHs.123119.

Genome annotation databases

EnsembliENST00000350148; ENSP00000239885; ENSG00000120693. [O15198-2]
ENST00000379826; ENSP00000369154; ENSG00000120693. [O15198-1]
ENST00000399275; ENSP00000382216; ENSG00000120693. [O15198-1]
GeneIDi4093.
KEGGihsa:4093.
UCSCiuc001uvw.3. human. [O15198-1]
uc001uvx.3. human. [O15198-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D83760 mRNA. Translation: BAA21128.1 .
D83761 mRNA. Translation: BAA21129.1 .
AL138706 Genomic DNA. Translation: CAI14007.1 .
AL138706 Genomic DNA. Translation: CAM19158.1 .
CH471075 Genomic DNA. Translation: EAX08571.1 .
CH471075 Genomic DNA. Translation: EAX08572.1 .
BC011559 mRNA. Translation: AAH11559.1 .
BC104760 mRNA. Translation: AAI04761.1 .
BC104762 mRNA. Translation: AAI04763.1 .
BC143240 mRNA. Translation: AAI43241.1 .
CCDSi CCDS45032.1. [O15198-1 ]
CCDS9360.1. [O15198-2 ]
RefSeqi NP_001120689.1. NM_001127217.2. [O15198-1 ]
NP_005896.1. NM_005905.5. [O15198-2 ]
UniGenei Hs.123119.

3D structure databases

ProteinModelPortali O15198.
SMRi O15198. Positions 13-136, 270-467.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110268. 112 interactions.
IntActi O15198. 99 interactions.
MINTi MINT-1179670.
STRINGi 9606.ENSP00000369154.

PTM databases

PhosphoSitei O15198.

Proteomic databases

MaxQBi O15198.
PaxDbi O15198.
PRIDEi O15198.

Protocols and materials databases

DNASUi 4093.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000350148 ; ENSP00000239885 ; ENSG00000120693 . [O15198-2 ]
ENST00000379826 ; ENSP00000369154 ; ENSG00000120693 . [O15198-1 ]
ENST00000399275 ; ENSP00000382216 ; ENSG00000120693 . [O15198-1 ]
GeneIDi 4093.
KEGGi hsa:4093.
UCSCi uc001uvw.3. human. [O15198-1 ]
uc001uvx.3. human. [O15198-2 ]

Organism-specific databases

CTDi 4093.
GeneCardsi GC13M037418.
HGNCi HGNC:6774. SMAD9.
HPAi CAB009119.
MIMi 603295. gene.
615342. phenotype.
neXtProti NX_O15198.
Orphaneti 275777. Heritable pulmonary arterial hypertension.
PharmGKBi PA30531.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG330956.
GeneTreei ENSGT00760000119091.
HOGENOMi HOG000286018.
HOVERGENi HBG053353.
InParanoidi O15198.
KOi K16791.
OMAi FQQPPCP.
OrthoDBi EOG7W1540.
PhylomeDBi O15198.
TreeFami TF314923.

Enzyme and pathway databases

Reactomei REACT_12034. Signaling by BMP.

Miscellaneous databases

GeneWikii Mothers_against_decapentaplegic_homolog_9.
GenomeRNAii 4093.
NextBioi 16050.
PROi O15198.
SOURCEi Search...

Gene expression databases

Bgeei O15198.
CleanExi HS_SMAD9.
Genevestigatori O15198.

Family and domain databases

Gene3Di 2.60.200.10. 1 hit.
3.90.520.10. 1 hit.
InterProi IPR013790. Dwarfin.
IPR003619. MAD_homology1_Dwarfin-type.
IPR013019. MAD_homology_MH1.
IPR017855. SMAD_dom-like.
IPR001132. SMAD_dom_Dwarfin-type.
IPR008984. SMAD_FHA_domain.
[Graphical view ]
PANTHERi PTHR13703. PTHR13703. 1 hit.
Pfami PF03165. MH1. 1 hit.
PF03166. MH2. 1 hit.
[Graphical view ]
SMARTi SM00523. DWA. 1 hit.
SM00524. DWB. 1 hit.
[Graphical view ]
SUPFAMi SSF49879. SSF49879. 1 hit.
SSF56366. SSF56366. 1 hit.
PROSITEi PS51075. MH1. 1 hit.
PS51076. MH2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of a novel member of the human Mad gene family (MADH6)."
    Watanabe T.K., Suzuki M., Omori Y., Hishigaki H., Horie M., Kanemoto N., Fujiwara T., Nakamura Y., Takahashi E.
    Genomics 42:446-451(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B).
    Tissue: Fetal brain.
  2. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND B).
    Tissue: Brain and Eye.
  5. Cited for: REVIEW.
  6. "Remarkable versatility of Smad proteins in the nucleus of transforming growth factor-beta activated cells."
    Verschueren K., Huylebroeck D.
    Cytokine Growth Factor Rev. 10:187-199(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  7. Cited for: REVIEW.
  8. Cited for: REVIEW.
  9. Cited for: VARIANT PPH2 GLU-43, CHARACTERIZATION OF VARIANT PPH2 GLU-43.

Entry informationi

Entry nameiSMAD9_HUMAN
AccessioniPrimary (citable) accession number: O15198
Secondary accession number(s): A2A2Y6, O14989, Q5TBA1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 4, 2001
Last sequence update: January 1, 1998
Last modified: October 29, 2014
This is version 156 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3