Homo sapiens Gene: BMPR1B
Summary
InnateDB Gene IDBG-30667.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BMPR1B
Gene Name bone morphogenetic protein receptor, type IB
Synonyms ALK-6; ALK6; CDw293
Species Homo sapiens
Ensembl Gene ENSG00000138696
Encoded Proteins
bone morphogenetic protein receptor, type IB
bone morphogenetic protein receptor, type IB
bone morphogenetic protein receptor, type IB
bone morphogenetic protein receptor, type IB
bone morphogenetic protein receptor, type IB
bone morphogenetic protein receptor, type IB
bone morphogenetic protein receptor, type IB
bone morphogenetic protein receptor, type IB
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:94757968-95158448
Strand Forward strand
Band q22.3
Transcripts
ENST00000264568 ENSP00000264568
ENST00000394931 ENSP00000378389
ENST00000440890 ENSP00000401907
ENST00000515059 ENSP00000426617
ENST00000506363 ENSP00000421144
ENST00000512312 ENSP00000425444
ENST00000509540 ENSP00000421671
ENST00000502683 ENSP00000424693
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:0005025 transforming growth factor beta receptor activity, type I
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:0002062 chondrocyte differentiation
GO:0006468 protein phosphorylation
GO:0006954 inflammatory response
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0009953 dorsal/ventral pattern formation
GO:0023014 signal transduction by phosphorylation
GO:0030154 cell differentiation
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0031290 retinal ganglion cell axon guidance
GO:0035108 limb morphogenesis
GO:0042698 ovulation cycle
GO:0043010 camera-type eye development
GO:0045597 positive regulation of cell differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0060041 retina development in camera-type eye
GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0043235 receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Signaling by BMP pathway
Signal Transduction pathway
KEGG
TGF-beta signaling pathway pathway
Cytokine-cytokine receptor interaction pathway
INOH
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
TGF-beta signaling pathway
BMP2 signaling pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.573062 Hs.598475 Hs.607096 Hs.738659
RefSeq NM_001203 NM_001256792 NM_001256793 NM_001256794 XM_006714292
HUGO
OMIM
CCDS CCDS3642 CCDS58919
HPRD 04457
IMGT
EMBL
GenPept
RNA Seq Atlas