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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
a) juvenile polyposis syndrome
b) Cowden disease
c) hereditary mixed polyposis syndrome 2
- microdeletion of chromosome 10q23 involving BMPR1A & PTEN is a cause of chromosome 10q23 deletion syndrome
General
activin receptor like kinase (ALK)
bone morphogenetic protein receptor type i
cluster-of-differentiation antigen; cluster designation antigen; CD antigen
glycoprotein
phosphoprotein
Properties
SIZE: entity length = 532 aa
MW = 60 kD
COMPARTMENT: cellular membrane
STATE: active state
MOTIF: signal sequence {1-23}
cysteine residue {C61}
MODIFICATION: cysteine residue {C82}
cysteine residue {C63}
MODIFICATION: cysteine residue {C67}
cysteine residue {C67}
MODIFICATION: cysteine residue {C63}
N-glycosylation site {N73}
cysteine residue {C76}
MODIFICATION: cysteine residue {C100}
cysteine residue {C82}
MODIFICATION: cysteine residue {C61}
cysteine residue {C100}
MODIFICATION: cysteine residue {C76}
cysteine residue {C110}
MODIFICATION: cysteine residue {C124}
cysteine residue {C124}
MODIFICATION: cysteine residue {C110}
cysteine residue {C125}
MODIFICATION: cysteine residue {C130}
cysteine residue {C130}
MODIFICATION: cysteine residue {C125}
transmembrane domain {153-176}
GS {204-233}
MOTIF: Ser phosphorylation site {S215}
Ser phosphorylation site {S216}
Ser phosphorylation site {S218}
Ser phosphorylation site {S220}
kinase domain
SITE: 234-525
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 240-248
ATP-binding site
NAME: ATP-binding site
SITE: 261-261
aspartate residue {D362}
Database Correlations
OMIM correlations
UniProt P36894
PFAM correlations
Entrez Gene 657
KEGG correlations
ENZYME 2.7.11.30
References
- UniProt :accession P36894
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=BMPR1A