CD292 BMPR1A (bone morphogenetic protein receptor type 1A), ALK3, ACVRLK3
Molecule TypeAntigen ExpressionMolecular Weight
Min / Max
Non-lineage Restricted Molecule
Type 1 glycoprotein
Bone Progenitor Cell
Mesenchymal Cell
Epithelial Cell
Chondrocyte
Neuron
Skeletal muscle
Small intestine
50 / 50
58 / 58

Expression
CD292  is expressed on bone progenitor cells, chondrocytes, epithelial cells of epidermis, hair follicles and mesenchymal cells, neurons, intestine and skeletal muscle.

Structure
MOLECULAR FAMILY NAME:  Belongs to the transmembrane serine/threonine kinase family.

CD292 is a single-pass type-1 509 aa glycoprotein.  It contains a 23 aa signal sequence, an 129 aa extracellular domain which contains an activin receptor and a potential N-glycosylation site, a 24 aa transmembrane domain and a 356 aa intracellular cytoplasmic domain which contains a TGFβ-like domain, a protein kinase domain and 2 ATP-binding sites.  CD291 belongs to the bone morphogenetic protein receptor family of transmembrane  serine/threonine kinases that include type-1 receptors CD292 and CDw293 and the type-2 receptors are members of the TGF-β superfamily.  Magnesium or manganese is required as a cofactor for enzymatic activity.

MOLECULAR MASS

POST-TRANSCRIPTIONAL MODIFICATION: No information.

POST-TRANSLATIONAL MODIFICATION

CD292 has one potential glycosylation site.

Ligands
LIGANDS AND MOLECULE ASSOCIATED WITH CD292

CD292 binds bone morphogenetic protein (BMP)-2 and BMP-4.

Function
CD292 plays a role in embryonic development, inducing cell proliferation and differentiation in multiple embryonic tissues.  It forms part of a tetrameric receptor which consisting of two CD292 molecules and two bone morphogenetic protein receptors (BMPRII) molecules.  Ligand binding activates CD292 which phosphorylates the serine (threonine) kinase receptors enabling activation of SMAD transcriptional regulators.  Bone development and chondrogenesis are regulated by CD292 and CDw293 which appear to have overlapping functions.

BIOCHEMICAL ACTIVITY: No information.

DISEASE RELEVANCE AND FUNCTION OF CD292 IN INTACT ANIMAL

CD292 binds important regulators of bone formation and the development of the embryo and is also involved in kinase and regulation of hair morphogenesis and embryogenesis.  Studies of CD292 conditional mutant mice have shown that it regulates differentiation and proliferation of hair follicle epithelium and is required for the completion of tooth morphogenesis, the development of atrioventricular valves and annulus fibrosis of the heart and the development of the spinal cord and skeleton.  Defects in CD292 are the cause of 25-40% of cases of juvenile intestinal polyposis syndrome, hereditary mixed polyposis syndrome, and Cowden disease (an autosomal cancer sydrome).  Cowden disease is an autosomal dominant cancer sydrome characterized by multiple hamartomas and a high risk of breast, thyroid and endometrial cancers. 

Comments
MOLECULAR INTERACTIONS-
PROTEINS AND DNA ELEMENTS WHICH REGULATE TRANSCRIPTION OF CD292: No information.

SUBSTRATES: No information.

ENZYMES WHICH MODIFY CD292: No information.

ADDITIONAL INSIGHTS

For further information see ten Dijke, P. et al (1994) J. Biol.Chem. 26: 16985-16988.


Database accession numbers
AnimalPIRSWISSPROTEMGBL/GENBANK
 
HumanEntrezgene 657P36894
Antibodies

Revised June 25, 2008


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