S/t Kinase Receptor R5

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Expression 5 Pathology 6 More General Terms 7 Internet Database 8 References

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

Internet Database

Kegg: [1]
OMIM: 158350
OMIM: 174900
OMIM: 601299
OMIM: 610069
OMIM: 612242
Prosite: [2]
Prosite: [3]
Prosite: [4]
Prosite: [5]
UniProt: [6]
Entrez gene: 657

References

1. UniProt [7]
2. GeneReviews [8]

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