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BMPR1A - Wikipedia, the free encyclopedia

BMPR1A

From Wikipedia, the free encyclopedia

Bone morphogenetic protein receptor, type IA

Ternary Complex Of Bmp-2 Bound To Bmpr-Ia-Ecd And Actrii-Ecd

Other names: Serine/threonine-protein kinase receptor R5, SKR5, Activin receptor-like kinase 3, ALK-3, CD292 antigen
Genetic data
Locus: Chr. 10 q22.3
Gene code: HUGO code:BMPR1A
Gene type: Protein coding
Protein Structure/Function
Protein length: 532 (Amino Acids)
Molecular Weight: 60198 (Da)
Structure: Complex Between Bmp-2 And Two Bmp Receptor Ia Ectodomains
Protein type: Receptor serine/threonine kinase
Functions: Receptor binding
Domains: TM domain S/T domain, GS domain
Motifs: SP motif
Other
Taxa expressing: Homo sapiens: homologs: many metazoan phyla
Cell types: many; prostate. cornea, brain
Subcellular localization: Plasma membrane
Pathway(s): TGF beta signaling pathway (KEGG) Cytokine-cytokine receptor interaction (KEGG)
Enzymatic Data
Catalytic activity: ATP + (receptor-protein) = ADP + receptor-protein phosphate
Cofactor(s): Magnesium or manganese
Receptor/Ligand data
Agonists: BMP2, BMP6, BMP7, GDF6
Antagonists: Noggin, Chordin
Medical/Biotechnological data
Diseases: Juvenile polyposis syndrome (JPS) Online 'Mendelian Inheritance in Man' (OMIM) 174900; Cowden disease (CD) Online 'Mendelian Inheritance in Man' (OMIM) 158350; Hereditary mixed polyposis syndrome 2 (HMPS2) Online 'Mendelian Inheritance in Man' (OMIM) 610069

The BMPR1A receptor binds BMP2 and BMP4. BMPR1A has also been designated as CD292 (cluster of differentiation 290).

BMP's repress WNT signaling to maintain stable stem cell populations. BMPR1A null mice died at embyonic day 8.0 without mesoderm specification, demonstrating its vital role in gastrulation.[1] It has been demonstrated in experiments using dominant negative BMPR1A chick embryos that BMPR1A plays a role in apoptosis and adipocyte development.[1] Using constitutively active forms of BMR1A it has been shown that it plays a role in cell differentiation.[1] Signals tranduced by the BMPR1A receptor are not essential for osteoblast formation or proliferation; however, BMPR1A is necessary for the extracellular matrix depostition by osteoblasts.[1] In the chick embryo, BMPR1A receptors are found in low levels in limb bud mesenchyme, a differing location to BMPR1B, supporting the differing roles they play in osteogenesis.[2]

[edit] Diseases

BMPR1A, SMAD4 and PTEN are responsible for Juvenile polyposis syndrome, juvenile intestinal polyposis and Cowden's disease.

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Identifiers
Symbol BMPR1A
Alt. Symbols ACVRLK3
Entrez 657
HUGO 1076
OMIM 601299
RefSeq NM_004329
UniProt P36894
Other data

[edit] References

  1. ^ a b c d Mishina Y, Starbuck MW, Gentile MA, Fukuda T, Kasparcova V, Seedor JG, Hanks MC, Amling M, Pinero GJ, Harada S, Behringer RR (2004). "Bone morphogenetic protein type IA receptor signaling regulates postnatal osteoblast function and bone remodeling". J. Biol. Chem. 279 (26): 27560–6. doi:10.1074/jbc.M404222200. PMID 15090551. 
  2. ^ Yoon BS, Ovchinnikov DA, Yoshii I, Mishina Y, Behringer RR, Lyons KM (2005). "Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo". Proc. Natl. Acad. Sci. U.S.A. 102 (14): 5062–7. doi:10.1073/pnas.0500031102. PMID 15781876. 

[edit] External links



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