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Description for Protein PAFAH1B1

platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
20 total interacting proteins; 15 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 5/1)
(microparticles: 1; platelet: 6; secretome: 1)
Summary:
This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • WD40: WD40 repeats
  • CC: Coiled Coil
  • LISH: Lissencephaly type-1-like homology motif
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.1.1.47
    KEGG - Orthology:
    K01062
    KEGG - Pathway(s):
    hsa00565; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Platelet activating factor acetylhydrolase isoform 1B alpha subunit; LIS1; PAF acetylhydrolase 45 kDa subunit; PAFAH 45 kDa subunit; PAFAH alpha; Lissencephaly 1 protein; LIS 1; PAFAHA; MDCR
    Approved Symbol:
    PAFAH1B1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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):

  • Acetate Ion(db)

    Associated Genetic Diseases:

  • Lissencephaly sequence, isolated(Pd);
  • Subcortical laminar heterotopia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03329 Entrez Gene ID: 5048 OMIM ID: 601545 Swissprot Accession: P43034;