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Protein

Mothers against decapentaplegic homolog 9

Gene

SMAD9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
Metal bindingi68ZincBy similarity1
Metal bindingi113ZincBy similarity1
Metal bindingi125ZincBy similarity1
Metal bindingi130ZincBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
SIGNORiO15198

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, SMAD81 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000120693.13
HGNCiHGNC:6774 SMAD9
MIMi603295 gene
neXtProtiNX_O15198

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Pulmonary hypertension, primary, 2 (PPH2)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615342
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06687143K → E in PPH2; affects SMAD-mediated signaling. 1 PublicationCorresponds to variant dbSNP:rs397514715EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi4093
MalaCardsiSMAD9
MIMi615342 phenotype
OpenTargetsiENSG00000120693
Orphaneti275777 Heritable pulmonary arterial hypertension
PharmGKBiPA30531

Polymorphism and mutation databases

BioMutaiSMAD9

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000908751 – 467Mothers against decapentaplegic homolog 9Add BLAST467

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO15198
MaxQBiO15198
PaxDbiO15198
PeptideAtlasiO15198
PRIDEiO15198
ProteomicsDBi48505
48506 [O15198-2]

PTM databases

iPTMnetiO15198
PhosphoSitePlusiO15198

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

BgeeiENSG00000120693 Expressed in 204 organ(s), highest expression level in endometrium
CleanExiHS_SMAD9
ExpressionAtlasiO15198 baseline and differential
GenevisibleiO15198 HS

Organism-specific databases

HPAiCAB009119
HPA031162

Interactioni

Subunit structurei

Interaction with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit. Interacts with RANBP3L (PubMed:25755279).1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi110268, 114 interactors
CORUMiO15198
IntActiO15198, 100 interactors
MINTiO15198
STRINGi9606.ENSP00000369154

Structurei

3D structure databases

ProteinModelPortaliO15198
SMRiO15198
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini16 – 140MH1PROSITE-ProRule annotationAdd BLAST125
Domaini273 – 467MH2PROSITE-ProRule annotationAdd BLAST195

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi43 – 49Poly-Lys7

Sequence similaritiesi

Belongs to the dwarfin/SMAD family.Curated

Phylogenomic databases

eggNOGiKOG3701 Eukaryota
ENOG410XQKU LUCA
GeneTreeiENSGT00760000119091
HOGENOMiHOG000286018
HOVERGENiHBG053353
InParanoidiO15198
KOiK16791
OMAiFQQPPCP
OrthoDBiEOG091G082C
PhylomeDBiO15198
TreeFamiTF314923

Family and domain databases

Gene3Di2.60.200.10, 1 hit
3.90.520.10, 1 hit
InterProiView protein in InterPro
IPR013790 Dwarfin
IPR003619 MAD_homology1_Dwarfin-type
IPR013019 MAD_homology_MH1
IPR017855 SMAD-like_dom_sf
IPR001132 SMAD_dom_Dwarfin-type
IPR008984 SMAD_FHA_dom_sf
IPR036578 SMAD_MH1_sf
PANTHERiPTHR13703 PTHR13703, 1 hit
PfamiView protein in Pfam
PF03165 MH1, 1 hit
PF03166 MH2, 1 hit
SMARTiView protein in SMART
SM00523 DWA, 1 hit
SM00524 DWB, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
SSF56366 SSF56366, 1 hit
PROSITEiView protein in PROSITE
PS51075 MH1, 1 hit
PS51076 MH2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06687143K → E in PPH2; affects SMAD-mediated signaling. 1 PublicationCorresponds to variant dbSNP:rs397514715EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006182224 – 260Missing in isoform B. 2 PublicationsAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83760 mRNA Translation: BAA21128.1
D83761 mRNA Translation: BAA21129.1
AL138706 Genomic DNA No translation available.
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]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83760 mRNA Translation: BAA21128.1
D83761 mRNA Translation: BAA21129.1
AL138706 Genomic DNA No translation available.
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

3D structure databases

ProteinModelPortaliO15198
SMRiO15198
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110268, 114 interactors
CORUMiO15198
IntActiO15198, 100 interactors
MINTiO15198
STRINGi9606.ENSP00000369154

PTM databases

iPTMnetiO15198
PhosphoSitePlusiO15198

Polymorphism and mutation databases

BioMutaiSMAD9

Proteomic databases

EPDiO15198
MaxQBiO15198
PaxDbiO15198
PeptideAtlasiO15198
PRIDEiO15198
ProteomicsDBi48505
48506 [O15198-2]

Protocols and materials databases

DNASUi4093
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi4093
DisGeNETi4093
EuPathDBiHostDB:ENSG00000120693.13
GeneCardsiSMAD9
HGNCiHGNC:6774 SMAD9
HPAiCAB009119
HPA031162
MalaCardsiSMAD9
MIMi603295 gene
615342 phenotype
neXtProtiNX_O15198
OpenTargetsiENSG00000120693
Orphaneti275777 Heritable pulmonary arterial hypertension
PharmGKBiPA30531
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3701 Eukaryota
ENOG410XQKU LUCA
GeneTreeiENSGT00760000119091
HOGENOMiHOG000286018
HOVERGENiHBG053353
InParanoidiO15198
KOiK16791
OMAiFQQPPCP
OrthoDBiEOG091G082C
PhylomeDBiO15198
TreeFamiTF314923

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
SIGNORiO15198

Miscellaneous databases

ChiTaRSiSMAD9 human
GeneWikiiMothers_against_decapentaplegic_homolog_9
GenomeRNAii4093
PROiPR:O15198
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120693 Expressed in 204 organ(s), highest expression level in endometrium
CleanExiHS_SMAD9
ExpressionAtlasiO15198 baseline and differential
GenevisibleiO15198 HS

Family and domain databases

Gene3Di2.60.200.10, 1 hit
3.90.520.10, 1 hit
InterProiView protein in InterPro
IPR013790 Dwarfin
IPR003619 MAD_homology1_Dwarfin-type
IPR013019 MAD_homology_MH1
IPR017855 SMAD-like_dom_sf
IPR001132 SMAD_dom_Dwarfin-type
IPR008984 SMAD_FHA_dom_sf
IPR036578 SMAD_MH1_sf
PANTHERiPTHR13703 PTHR13703, 1 hit
PfamiView protein in Pfam
PF03165 MH1, 1 hit
PF03166 MH2, 1 hit
SMARTiView protein in SMART
SM00523 DWA, 1 hit
SM00524 DWB, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
SSF56366 SSF56366, 1 hit
PROSITEiView protein in PROSITE
PS51075 MH1, 1 hit
PS51076 MH2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSMAD9_HUMAN
AccessioniPrimary (citable) accession number: O15198
Secondary accession number(s): A2A2Y6, O14989, Q5TBA1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 4, 2001
Last sequence update: January 1, 1998
Last modified: November 7, 2018
This is version 194 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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