BMPR1B

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]

Description

Bone morphogenetic protein receptor type 1B

Tissue specificity

Tissue enhanced (brain, cervix, prostate)

Predicted location

Intracellular, Membrane

Protein family

CD markers
Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Chromosome

4 (94757955 - 95158448)

Ensembl ID

ENSG00000138696  (ver. 103.38)

Orthologs

Mouse Bmpr1b: ENSMUSG00000052430

UniProt

O00238

neXtProt

NX_O00238

Human splice variants
Mouse splice variants

Protein structure