Contents

BMPR1B

Protein-coding gene in the species Homo sapiens

BMPR1B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3MDY
Identifiers
Aliases	BMPR1B, ALK-6, ALK6, CDw293, AMDD, BDA1D, BDA2, bone morphogenetic protein receptor type 1B, AMD3
External IDs	OMIM: 603248; MGI: 107191; HomoloGene: 20322; GeneCards: BMPR1B; OMA:BMPR1B - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q22.3 Start 94,757,955 bp[1] End 95,158,448 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 H1 Start 141,542,897 bp[2] End 141,875,186 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon bronchial epithelial cell tail of epididymis testicle buccal mucosa cell seminal vesicula entorhinal cortex renal medulla trigeminal ganglion right uterine tube Top expressed in cumulus cell primary oocyte secondary oocyte optic stalk zygote lumbar subsegment of spinal cord prostate vestibular sensory epithelium stria vascularis lobe of prostate More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity nucleotide binding protein kinase activity metal ion binding kinase activity protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity transforming growth factor beta receptor activity, type I protein binding SMAD binding ATP binding transforming growth factor beta-activated receptor activity growth factor binding Cellular component integral component of membrane HFE-transferrin receptor complex membrane receptor complex plasma membrane integral component of plasma membrane neuronal cell body dendrite Biological process eye development positive regulation of extrinsic apoptotic signaling pathway via death domain receptors skeletal system development cell differentiation limb morphogenesis ovarian cumulus expansion chondrocyte differentiation phosphorylation positive regulation of bone mineralization chondrocyte development cellular response to BMP stimulus BMP signaling pathway protein phosphorylation negative regulation of chondrocyte proliferation cartilage development positive regulation of osteoblast differentiation transmembrane receptor protein serine/threonine kinase signaling pathway retina development in camera-type eye positive regulation of cartilage development positive regulation of chondrocyte differentiation positive regulation of cell differentiation ovulation cycle camera-type eye development inflammatory response dorsal/ventral pattern formation endochondral bone morphogenesis cartilage condensation positive regulation of transcription by RNA polymerase II proteoglycan biosynthetic process retinal ganglion cell axon guidance cellular response to growth factor stimulus transforming growth factor beta receptor signaling pathway pattern specification process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 658 12167 Ensembl ENSG00000138696 ENSMUSG00000052430 UniProt O00238 P36898 RefSeq (mRNA) NM_001203 NM_001256792 NM_001256793 NM_001256794 NM_001277216 NM_001277217 NM_001277218 NM_001277220 NM_007560 NM_001355043 RefSeq (protein) NP_001194 NP_001243721 NP_001243722 NP_001243723 NP_001264145 NP_001264146 NP_001264147 NP_001264149 NP_031586 NP_001341972 Location (UCSC) Chr 4: 94.76 – 95.16 Mb Chr 3: 141.54 – 141.88 Mb PubMed search [3] [4]
Wikidata
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Bone morphogenetic protein receptor type-1B also known as CDw293 (cluster of differentiation w293) is a protein that in humans is encoded by the BMPR1B gene.^[5][6]

Function[edit]

BMPR1B is 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.^[7]

The BMPR1B receptor plays a role in the formation of middle and proximal phalanges.^[8]

Clinical significance[edit]

Mutations in this gene have been associated with primary pulmonary hypertension.^[7]

In the chick embryo, it has been shown that BMPR1B is found in precartilaginous condensations.^[9] BMPR1B is the major transducer of signals in these condensations as demonstrated in experiments using constitutively active BMPR1B receptors.^[9] BMPR1B is a more effective transducer of GDF5 than BMPR1A.^[9] Unlike BMPR1A null mice, which die at an early embryonic stage, BMPR1B null mice are viable.^[9]

References[edit]

External links[edit]

• BMPR1B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human BMPR1B genome location and BMPR1B gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.