Homo sapiens Protein: SMAD9 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-231039.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | SMAD9 | ||||||||||||||||||||||
Protein Name | SMAD family member 9 | ||||||||||||||||||||||
Synonyms | MADH6; MADH9; PPH2; SMAD8; SMAD8A; SMAD8B; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000382216 | ||||||||||||||||||||||
InnateDB Gene | IDBG-24637 (SMAD9) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD). | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=In the cytoplasm in the absence of ligand. Migration to the nucleus when complexed with SMAD4 (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | 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. {ECO:0000269PubMed:21898662}. Note=The disease may be caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 213 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001132
SMAD domain, Dwarfin-type IPR003619 MAD homology 1, Dwarfin-type IPR008984 SMAD/FHA domain IPR013019 MAD homology, MH1 IPR019471 Interferon regulatory factor-3 |
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PFAM |
PF03166
PF03165 PF10401 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00524
SM00523 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O15198 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O15198 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4093 | ||||||||||||||||||||||
UniGene | Hs.586812 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:6774 | ||||||||||||||||||||||
OMIM | 603295 | ||||||||||||||||||||||
CCDS | CCDS45032 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AL138706 BC011559 BC104760 BC104762 BC143240 CH471075 D83760 D83761 | ||||||||||||||||||||||
GenPept | AAH11559 AAI04761 AAI04763 AAI43241 BAA21128 BAA21129 CAI14007 CAM19158 EAX08571 EAX08572 | ||||||||||||||||||||||