BMPR1A è un gene codificato dal simbolo BMPR1A. Altri nomi includono: Bone morphogenetic protein receptor type-1A; BMP type-1A receptor; Activin receptor-like kinase 3; ALK-3; Serine/threonine-protein kinase receptor R5; SKR5; ACVRLK3; ALK3. BMPR1A ha una massa di 60.2kDa, una lunghezza di amminoacidi di 532, ed è implicato nella malattia: Juvenile polyposis syndrome; Polyposis syndrome, mixed hereditary 2.
Offriamo 6 anticorpi contro BMPR1A, allevati nel Coniglio e Capra, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6.
Sommario di Entrez
The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding.
Specificità del tessuto
Highly expressed in skeletal muscle.
Coinvolgimento nella malattia
Juvenile polyposis syndrome: Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers.
Polyposis syndrome, mixed hereditary 2: A disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas.
Somiglianze di sequenza
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Modifica post-translazionale
Glycosylated.
Posizione cellulare
Cell membrane. Cell surface.
