InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMAD1

Summary

InnateDB Protein

IDBP-39938.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMAD1

Protein Name

SMAD family member 1

Synonyms

BSP-1; BSP1; JV4-1; JV41; MADH1; MADR1;

Species

Homo sapiens

Ensembl Protein

ENSP00000305769

InnateDB Gene

IDBG-39936 (SMAD1)

Protein Structure

UniProt Annotation

Function

Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. {ECO:0000269PubMed:12097147}.

Subcellular Localization

Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with SMAD4. Co-localizes with LEMD3 at the nucleus inner membrane.

Disease Associations

Note=SMAD1 variants may be associated with susceptibility to pulmonary hypertension, a 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.

Tissue Specificity

Ubiquitous. Highest expression seen in the heart and skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 268 experimentally validated interaction(s) in this database.
They are also associated with 36 interaction(s) predicted by orthology.

Experimentally validated
Total	268 [view]
Protein-Protein	259 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	5 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	36 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005057	receptor signaling protein activity
GO:0005515	protein binding
GO:0019901	protein kinase binding
GO:0030618	transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity
GO:0042802	identical protein binding
GO:0046872	metal ion binding
GO:0070410	co-SMAD binding
GO:0070411	I-SMAD binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007165	signal transduction
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0007183	SMAD protein complex assembly
GO:0009880	embryonic pattern specification
GO:0010628	positive regulation of gene expression
GO:0030509	BMP signaling pathway
GO:0031053	primary miRNA processing
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0071773	cellular response to BMP stimulus
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005637	nuclear inner membrane
GO:0005654	nucleoplasm
GO:0005667	transcription factor complex
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005829	cytosol
GO:0016021	integral component of membrane
GO:0043234	protein complex

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

Q15797