UniProtKB - O15198 (SMAD9_HUMAN)
Mothers against decapentaplegic homolog 9
SMAD9
Functioni
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 68 | ZincBy similarity | 1 | |
Metal bindingi | 113 | ZincBy similarity | 1 | |
Metal bindingi | 125 | ZincBy similarity | 1 | |
Metal bindingi | 130 | ZincBy similarity | 1 |
GO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- I-SMAD binding Source: GO_Central
- metal ion binding Source: UniProtKB-KW
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- anatomical structure morphogenesis Source: GO_Central
- BMP signaling pathway Source: BHF-UCL
- cell differentiation Source: GO_Central
- cellular response to BMP stimulus Source: BHF-UCL
- positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus Source: BHF-UCL
- SMAD protein signal transduction Source: BHF-UCL
- transforming growth factor beta receptor signaling pathway Source: GO_Central
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | O15198 |
Reactomei | R-HSA-201451, Signaling by BMP |
SignaLinki | O15198 |
SIGNORi | O15198 |
Names & Taxonomyi
Protein namesi | Recommended name: Mothers against decapentaplegic homolog 9Short 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6774, SMAD9 |
MIMi | 603295, gene |
neXtProti | NX_O15198 |
VEuPathDBi | HostDB:ENSG00000120693 |
Subcellular locationi
Cytosol
- cytosol Source: HPA
Nucleus
- heteromeric SMAD protein complex Source: GO_Central
- nucleoplasm Source: HPA
- nucleus Source: BHF-UCL
Other locations
- chromatin Source: NTNU_SB
- cytoplasm Source: BHF-UCL
- SMAD protein complex Source: BHF-UCL
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Pulmonary hypertension, primary, 2 (PPH2)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066871 | 43 | K → E in PPH2; affects SMAD-mediated signaling. 1 PublicationCorresponds to variant dbSNP:rs397514715EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 4093 |
GeneReviewsi | SMAD9 |
MalaCardsi | SMAD9 |
MIMi | 615342, phenotype |
OpenTargetsi | ENSG00000120693 |
Orphaneti | 275777, Heritable pulmonary arterial hypertension |
PharmGKBi | PA30531 |
Miscellaneous databases
Pharosi | O15198, Tbio |
Genetic variation databases
BioMutai | SMAD9 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000090875 | 1 – 467 | Mothers against decapentaplegic homolog 9Add BLAST | 467 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | O15198 |
MassIVEi | O15198 |
MaxQBi | O15198 |
PaxDbi | O15198 |
PeptideAtlasi | O15198 |
PRIDEi | O15198 |
ProteomicsDBi | 48505 [O15198-1] 48506 [O15198-2] |
PTM databases
iPTMneti | O15198 |
PhosphoSitePlusi | O15198 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000120693, Expressed in endometrium and 216 other tissues |
ExpressionAtlasi | O15198, baseline and differential |
Genevisiblei | O15198, HS |
Organism-specific databases
HPAi | ENSG00000120693, Tissue enhanced (thyroid) |
Interactioni
Subunit structurei
Interaction with the co-SMAD SMAD4.
Interacts with PEBP2-alpha subunit.
Interacts with RANBP3L (PubMed:25755279).
1 PublicationBinary interactionsi
O15198
With | #Exp. | IntAct |
---|---|---|
KDM1A [O60341] | 2 | EBI-748763,EBI-710124 |
PRMT6 [Q96LA8] | 2 | EBI-748763,EBI-912440 |
SMAD4 [Q13485] | 4 | EBI-748763,EBI-347263 |
Isoform B [O15198-2]
With | #Exp. | IntAct |
---|---|---|
GRN [P28799] | 3 | EBI-12273450,EBI-747754 |
LEMD3 [Q9Y2U8] | 4 | EBI-12273450,EBI-2561428 |
SMAD4 [Q13485] | 3 | EBI-12273450,EBI-347263 |
GO - Molecular functioni
- I-SMAD binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 110268, 124 interactors |
CORUMi | O15198 |
IntActi | O15198, 105 interactors |
MINTi | O15198 |
STRINGi | 9606.ENSP00000369154 |
Miscellaneous databases
RNActi | O15198, protein |
Structurei
Secondary structure
3D structure databases
SASBDBi | O15198 |
SMRi | O15198 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 16 – 140 | MH1PROSITE-ProRule annotationAdd BLAST | 125 | |
Domaini | 273 – 467 | MH2PROSITE-ProRule annotationAdd BLAST | 195 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 174 – 246 | DisorderedSequence analysisAdd BLAST | 73 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 192 – 221 | Polar residuesSequence analysisAdd BLAST | 30 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3701, Eukaryota |
GeneTreei | ENSGT00940000163092 |
HOGENOMi | CLU_026736_0_2_1 |
InParanoidi | O15198 |
OMAi | CSASYPH |
OrthoDBi | 608001at2759 |
PhylomeDBi | O15198 |
TreeFami | TF314923 |
Family and domain databases
Gene3Di | 2.60.200.10, 1 hit 3.90.520.10, 1 hit |
InterProi | View 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 |
PANTHERi | PTHR13703, PTHR13703, 1 hit |
Pfami | View protein in Pfam PF03165, MH1, 1 hit PF03166, MH2, 1 hit |
SMARTi | View protein in SMART SM00523, DWA, 1 hit SM00524, DWB, 1 hit |
SUPFAMi | SSF49879, SSF49879, 1 hit SSF56366, SSF56366, 1 hit |
PROSITEi | View protein in PROSITE PS51075, MH1, 1 hit PS51076, MH2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A7I2R5A4 | A0A7I2R5A4_HUMAN | Mothers against decapentaplegic hom... | SMAD9 | 144 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066871 | 43 | K → E in PPH2; affects SMAD-mediated signaling. 1 PublicationCorresponds to variant dbSNP:rs397514715EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_006182 | 224 – 260 | Missing in isoform B. 2 PublicationsAdd BLAST | 37 |
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 |
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] |
Genome annotation databases
Ensembli | ENST00000350148; ENSP00000239885; ENSG00000120693 [O15198-2] ENST00000379826; ENSP00000369154; ENSG00000120693 |
GeneIDi | 4093 |
KEGGi | hsa:4093 |
MANE-Selecti | ENST00000379826.5; ENSP00000369154.4; NM_001127217.3; NP_001120689.1 |
UCSCi | uc001uvw.3, human [O15198-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6FZT | X-ray | 2.46 | A/B | 1-140 | [»] | |
SASBDBi | O15198 | |||||
SMRi | O15198 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110268, 124 interactors |
CORUMi | O15198 |
IntActi | O15198, 105 interactors |
MINTi | O15198 |
STRINGi | 9606.ENSP00000369154 |
PTM databases
iPTMneti | O15198 |
PhosphoSitePlusi | O15198 |
Genetic variation databases
BioMutai | SMAD9 |
Proteomic databases
jPOSTi | O15198 |
MassIVEi | O15198 |
MaxQBi | O15198 |
PaxDbi | O15198 |
PeptideAtlasi | O15198 |
PRIDEi | O15198 |
ProteomicsDBi | 48505 [O15198-1] 48506 [O15198-2] |
Protocols and materials databases
Antibodypediai | 3969, 344 antibodies from 39 providers |
DNASUi | 4093 |
Genome annotation databases
Ensembli | ENST00000350148; ENSP00000239885; ENSG00000120693 [O15198-2] ENST00000379826; ENSP00000369154; ENSG00000120693 |
GeneIDi | 4093 |
KEGGi | hsa:4093 |
MANE-Selecti | ENST00000379826.5; ENSP00000369154.4; NM_001127217.3; NP_001120689.1 |
UCSCi | uc001uvw.3, human [O15198-1] |
Organism-specific databases
CTDi | 4093 |
DisGeNETi | 4093 |
GeneCardsi | SMAD9 |
GeneReviewsi | SMAD9 |
HGNCi | HGNC:6774, SMAD9 |
HPAi | ENSG00000120693, Tissue enhanced (thyroid) |
MalaCardsi | SMAD9 |
MIMi | 603295, gene 615342, phenotype |
neXtProti | NX_O15198 |
OpenTargetsi | ENSG00000120693 |
Orphaneti | 275777, Heritable pulmonary arterial hypertension |
PharmGKBi | PA30531 |
VEuPathDBi | HostDB:ENSG00000120693 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3701, Eukaryota |
GeneTreei | ENSGT00940000163092 |
HOGENOMi | CLU_026736_0_2_1 |
InParanoidi | O15198 |
OMAi | CSASYPH |
OrthoDBi | 608001at2759 |
PhylomeDBi | O15198 |
TreeFami | TF314923 |
Enzyme and pathway databases
PathwayCommonsi | O15198 |
Reactomei | R-HSA-201451, Signaling by BMP |
SignaLinki | O15198 |
SIGNORi | O15198 |
Miscellaneous databases
BioGRID-ORCSi | 4093, 6 hits in 1063 CRISPR screens |
ChiTaRSi | SMAD9, human |
GeneWikii | Mothers_against_decapentaplegic_homolog_9 |
GenomeRNAii | 4093 |
Pharosi | O15198, Tbio |
PROi | PR:O15198 |
RNActi | O15198, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000120693, Expressed in endometrium and 216 other tissues |
ExpressionAtlasi | O15198, baseline and differential |
Genevisiblei | O15198, HS |
Family and domain databases
Gene3Di | 2.60.200.10, 1 hit 3.90.520.10, 1 hit |
InterProi | View 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 |
PANTHERi | PTHR13703, PTHR13703, 1 hit |
Pfami | View protein in Pfam PF03165, MH1, 1 hit PF03166, MH2, 1 hit |
SMARTi | View protein in SMART SM00523, DWA, 1 hit SM00524, DWB, 1 hit |
SUPFAMi | SSF49879, SSF49879, 1 hit SSF56366, SSF56366, 1 hit |
PROSITEi | View protein in PROSITE PS51075, MH1, 1 hit PS51076, MH2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SMAD9_HUMAN | |
Accessioni | O15198Primary (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: | February 23, 2022 | |
This is version 215 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families