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Description for Protein ACVRL1

activin A receptor type II-like 1
8 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [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
  • S_T_Y_Kinase: Protein kinase
  • unclassified specificity
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.11.30
    KEGG - Orthology:
    K13594
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    ALK1; ACVRLK1; TGF B superfamily receptor type 1; Activin A receptor, type II-like kinase 1; TSR 1; Serine/threonine protein kinase receptor R3; SKR3 ACVRL1
    Approved Symbol:
    ACVRL1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 1
    Human phosphorylation targets: 1; Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Adenosine triphosphate(db)

    Associated Genetic Diseases:

  • Pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related(Pd);
  • Telangiectasia, hereditary hemorrhagic, type 2(Pd);
  • Telangiectasia, hereditary hemorrhagic, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 03181 Entrez Gene ID: 94 OMIM ID: 601284 Swissprot Accession: P37023;