Recombinant Human Bone morphogenetic protein receptor type-1B (BMPR1B), Truncated

Uniprot Id

O00238

Target Species

Human

Target Name

BMPR1B

Target Full Name

Bone morphogenetic protein receptor type-1B

Target 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. Positively regulates chondrocyte differentiation through GDF5 interaction.

Target Involvement

Acromesomelic dysplasia, Demirhan type (AMDD); Brachydactyly A2 (BDA2); Brachydactyly A1, D (BDA1D)

Target Subcellular Location

Cell membrane. Membrane; Single-pass type I membrane protein.

Target Protein Families

Protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily

Target Synonyms

BMPR1B; Bone morphogenetic protein receptor type-1B; BMP type-1B receptor; BMPR-1B; CD antigen CDw293

Target Background

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.