InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BMPR1B

Summary

InnateDB Protein

IDBP-479893.4

Last Modified

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

Gene Symbol

BMPR1B

Protein Name

bone morphogenetic protein receptor, type IB

Synonyms

ALK-6; ALK6; CDw293;

Species

Homo sapiens

Ensembl Protein

ENSP00000426617

InnateDB Gene

IDBG-30667 (BMPR1B)

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 BMP7/OP-1 and GDF5.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Acromesomelic chondrodysplasia, with genital anomalies (AMDGA) [MIM:609441]: A form of chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). {ECO:0000269PubMed:15805157}. Note=The disease is caused by mutations affecting the gene represented in this entry.Brachydactyly A2 (BDA2) [MIM:112600]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. {ECO:0000269PubMed:14523231, ECO:0000269PubMed:16957682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 132 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	132 [view]
Protein-Protein	132 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
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:0046332	SMAD binding
GO:0046872	metal ion binding

Biological Process

GO:0001501	skeletal system development
GO:0001502	cartilage condensation
GO:0001550	ovarian cumulus expansion
GO:0001654	eye development
GO:0006468	protein phosphorylation
GO:0023014	signal transduction by phosphorylation
GO:0030501	positive regulation of bone mineralization
GO:0030509	BMP signaling pathway
GO:0035108	limb morphogenesis
GO:0042698	ovulation cycle
GO:0045597	positive regulation of cell differentiation
GO:0045669	positive regulation of osteoblast differentiation

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0043235	receptor complex

Protein Structure and Domains

PDB ID

InterPro

IPR000333 Ser/Thr protein kinase, TGFB receptor
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

PR00653
PR00109

PIRSF

SMART

SM00220
SM00467
SM00219

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt