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Description for Protein CHAT

choline O-acetyltransferase
9 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • NLS: Nuclear localization signal
  • NES: Nuclear Export Signal
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.3.1.6
    KEGG - Orthology:
    K00623
    KEGG - Pathway(s):
    hsa00564
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    CMS1A; CMS1A2; Acetyl CoA:choline O-acetyltransferase; EC 2.3.1.6; Choline acetyltransferase isoform 2; Choline acetyltransferase isoform 1; Choline o-acetyltransferase; CHOACTase; Choline acetylase; FIMG2; CLAT
    Approved Symbol:
    CHAT
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 21
    Human (de-) phosphorylation sites: 21; 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):

  • Choline(db)

    Associated Genetic Diseases:

  • Myasthenic syndrome, congenital, associated with episodic apnea(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07510 Entrez Gene ID: 1103 OMIM ID: 118490 Swissprot Accession: P28329; Q6LEN5; Q6LEN6;