InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMAD9

Summary

InnateDB Protein

IDBP-24641.6

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

ENSP00000369154

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.

Experimentally validated
Total	213 [view]
Protein-Protein	212 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0030618	transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity
GO:0046872	metal ion binding

Biological Process

GO:0001657	ureteric bud development
GO:0001666	response to hypoxia
GO:0001880	Mullerian duct regression
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006468	protein phosphorylation
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0030509	BMP signaling pathway
GO:0030901	midbrain development
GO:0030902	hindbrain development
GO:0035556	intracellular signal transduction
GO:0045597	positive regulation of cell differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0051216	cartilage development
GO:0060348	bone development
GO:0071407	cellular response to organic cyclic compound

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005667	transcription factor complex
GO:0005737	cytoplasm
GO:0005829	cytosol

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

PFAM

PF03166
PF03165
PF10401

PRINTS

PIRSF

SMART

SM00524
SM00523

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O15198