CDw293; bone morphogenetic protein receptor type-1B (BMPR1B)

Function

• on ligand binding, forms a receptor complex consisting of 1 type II & t2 type I transmembrane serine/threonine kinases
• type II receptors phosphorylate & activate type I receptors which autophosphorylate, then bind & activate SMAD transcriptional regulators
• receptor for BMPS/OP-1

Cofactor: Mg+2 or Mn+2 (putative)

Structure

• belongs to the protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily
• contains 1 GS domain
• contains 1 protein kinase domain

Compartment

membrane

Pathology

• defects in BMPR1B are the cause of
  • acromesomelic chondrodysplasia with genital anomalies
  • brachydactyly type A2

More general terms

• bone morphogenetic protein receptor type i
• CD antigen

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:658
• OMIM: https://mirror.omim.org/entry/112600
• OMIM: https://mirror.omim.org/entry/603248
• OMIM: https://mirror.omim.org/entry/609441
• UniProt: http://www.uniprot.org/uniprot/O00238.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=658