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Description for Protein BMPR1B

bone morphogenetic protein receptor, type IB
62 total interacting proteins; 20 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 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. Mutations in this gene have been associated with primary pulmonary hypertension. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
  • GS: GS motif
  • S_T_kinase: Serine/Threonine protein kinases, catalytic domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.11.30
    KEGG - Orthology:
    K13578
    KEGG - Pathway(s):
    hsa04060; hsa04350
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Activin receptor like kinase 6; ALK6
    Approved Symbol:
    BMPR1B
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 3
    Human phosphorylation targets: 3; Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Brachydactyly, type A2(Pd);
  • Brachydactyly, type C(Pd);
  • Chondrodysplasia, acromesomelic, with genital anomalies(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 04457 Entrez Gene ID: 658 OMIM ID: 603248 Swissprot Accession: O00238;