InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BMPR1A

Summary

InnateDB Protein

IDBP-81083.6

Last Modified

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

Gene Symbol

BMPR1A

Protein Name

bone morphogenetic protein receptor, type IA

Synonyms

10q23del; ACVRLK3; ALK3; CD292; SKR5;

Species

Homo sapiens

Ensembl Protein

ENSP00000361107

InnateDB Gene

IDBG-81081 (BMPR1A)

Protein Structure

UniProt Annotation

Function

On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP-2 and BMP-4.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Juvenile polyposis syndrome (JPS) [MIM:174900]: Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers. {ECO:0000269PubMed:11536076, ECO:0000269PubMed:12136244, ECO:0000269PubMed:12417513, ECO:0000269PubMed:12630959}. Note=The disease is caused by mutations affecting the gene represented in this entry.Polyposis syndrome, mixed hereditary 2 (HMPS2) [MIM:610069]: A disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A microdeletion of chromosome 10q23 involving BMPR1A and PTEN is a cause of chromosome 10q23 deletion syndrome, which shows overlapping features of the following three disorders: Bannayan-Zonana syndrome, Cowden disease and juvenile polyposis syndrome. {ECO:0000269PubMed:11381269, ECO:0000269PubMed:16525031}.

Tissue Specificity

Highly expressed in skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 48 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	48 [view]
Protein-Protein	47 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0004675	transmembrane receptor protein serine/threonine kinase activity
GO:0004702	receptor signaling protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005024	transforming growth factor beta-activated receptor activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0042803	protein homodimerization activity
GO:0046332	SMAD binding
GO:0046872	metal ion binding

Biological Process

GO:0001701	in utero embryonic development
GO:0001707	mesoderm formation
GO:0001756	somitogenesis
GO:0001880	Mullerian duct regression
GO:0002053	positive regulation of mesenchymal cell proliferation
GO:0003007	heart morphogenesis
GO:0003272	endocardial cushion formation
GO:0006366	transcription from RNA polymerase II promoter
GO:0006468	protein phosphorylation
GO:0006955	immune response
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0007389	pattern specification process
GO:0007398	ectoderm development
GO:0007399	nervous system development
GO:0007492	endoderm development
GO:0007507	heart development
GO:0009950	dorsal/ventral axis specification
GO:0009952	anterior/posterior pattern specification
GO:0009953	dorsal/ventral pattern formation
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0014032	neural crest cell development
GO:0019827	stem cell maintenance
GO:0021983	pituitary gland development
GO:0021998	neural plate mediolateral regionalization
GO:0023014	signal transduction by phosphorylation
GO:0030154	cell differentiation
GO:0030324	lung development
GO:0030501	positive regulation of bone mineralization
GO:0030509	BMP signaling pathway
GO:0035137	hindlimb morphogenesis
GO:0042475	odontogenesis of dentin-containing tooth
GO:0042733	embryonic digit morphogenesis
GO:0045669	positive regulation of osteoblast differentiation
GO:0045893	positive regulation of transcription, DNA-templated
GO:0048339	paraxial mesoderm development
GO:0048352	paraxial mesoderm structural organization
GO:0048368	lateral mesoderm development
GO:0048378	regulation of lateral mesodermal cell fate specification
GO:0048382	mesendoderm development
GO:0048568	embryonic organ development
GO:0048589	developmental growth
GO:0048598	embryonic morphogenesis
GO:0050679	positive regulation of epithelial cell proliferation
GO:0050768	negative regulation of neurogenesis
GO:0051216	cartilage development
GO:0060021	palate development
GO:0060391	positive regulation of SMAD protein import into nucleus
GO:0060896	neural plate pattern specification
GO:0060914	heart formation

Cellular Component

GO:0005886	plasma membrane
GO:0005901	caveola
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030425	dendrite
GO:0043025	neuronal cell body

Protein Structure and Domains

PDB ID

InterPro

IPR000472 TGF-beta receptor/activin receptor, type I/II
IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR003605 TGF beta receptor, GS motif
IPR011009 Protein kinase-like domain
IPR020635 Tyrosine-protein kinase, catalytic domain

PFAM

PF01064
PF00069
PF07714
PF08515

PRINTS

PR00109

PIRSF

SMART

SM00220
SM00467
SM00219

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt