CD292; bone morphogenetic protein receptor type-1A; serine/threonine protein kinase receptor R5; SKR5; activin receptor-like kinase 3; ALK-3 (BMPR1A, ACVRLK3, ALK3)

Function

• on ligand binding, forms a receptor complex consisting of 2 type II & 2 type I transmembrane serine/threonine kinases
• type II receptors phosphorylate & activate type I receptors which autophosphorylate, then bind & activate SMAD transcriptional regulators
• receptor for BMP-2 & BMP-4

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

Expression

highly expressed in skeletal muscle

Pathology

• defects in BMPR1A are a cause of
  • juvenile polyposis syndrome
  • Cowden disease
  • hereditary mixed polyposis syndrome 2
• microdeletion of chromosome 10q23 involving BMPR1A & PTEN is a cause of chromosome 10q23 deletion syndrome

More general terms

• bone morphogenetic protein receptor type i
• activin receptor like kinase (ALK)
• phosphoprotein
• glycoprotein
• CD antigen

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:657
• OMIM: https://mirror.omim.org/entry/158350
• OMIM: https://mirror.omim.org/entry/174900
• OMIM: https://mirror.omim.org/entry/601299
• OMIM: https://mirror.omim.org/entry/610069
• OMIM: https://mirror.omim.org/entry/612242
• UniProt: http://www.uniprot.org/uniprot/P36894.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=657