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Description for Protein PAFAH1B3

platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
32 total interacting proteins; 12 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
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:
PAF acetylhydrolase 29 kDa subunit; PAF AH 29 kDa subunit; PAFAH gamma subunit; Platelet activating factor acetylhydrolase IB gamma subunit; Isoform Ib; gamma subunit 29kD; EC 3.1.1.47; PAFAHG
Approved Symbol:
PAFAH1B3
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; 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):

  • (1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATE(db);
  • Acetate Ion(db)

    Associated Genetic Diseases:

    None Available
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04354 Entrez Gene ID: 5050 OMIM ID: 603074 Swissprot Accession: Q15102;