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Description for Protein PKD1

polycystic kidney disease 1 (autosomal dominant)
25 total interacting proteins; 18 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 5)
Summary:
This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • PKD: Repeats in polycystic kidney disease 1 (PKD1) and other proteins
  • LRR: Leucine-rich repeats, outliers
  • GPS: G-protein-coupled receptor proteolytic site domain
  • TM: Transmembrane domain
  • LH2: Lipoxygenase homology 2 (beta barrel) domain
  • LECTIN_C: C-type lectin (CTL) or carbohydrate-recognition domain (CRD)
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04985
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    PBP; Polycystic kidney disease-associated protein; Polycystin 1 isoform 2 precursor; Polycystin 1 isoform 1 precursor
    Approved Symbol:
    PKD1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 11
    Human (de-) phosphorylation sites: 11; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Polycystic kidney disease 1(Pd);
  • Polycystic kidney disease 1, severe(Pd)
    		• Predicted Transmembrane Domains:
    03203_2(10)
    03203_1(10)
    Additional Identifiers:

    HPRD: 03203 Entrez Gene ID: 5310 OMIM ID: 601313 Swissprot Accession: P98161;