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Description for Protein TAZ

tafazzin
5 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.3.1.-
    KEGG - Orthology:
    K13511
    KEGG - Pathway(s):
    hsa00564
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    G4.5; Tafazzin isoform 1; Tafazzin isoform 2; Tafazzin isoform 3; Tafazzin isoform 4; Tafazzin isoform 5; EFE; BTHS; EFE2; CMD3A; XAP-2; OTTHUMP00000061673; Cardiomyopathy, dilated 3A (X-linked)
    Approved Symbol:
    TAZ
    (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):

    None Available

    Associated Genetic Diseases:

  • Barth syndrome(Pd);
  • Cardiomyopathy, dilated, 3A(Pd);
  • Left ventricular noncompaction, isolated(Pd);
  • Noncompaction of left ventricular myocardium, familial isolated(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 1
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02316 Entrez Gene ID: 6901 OMIM ID: 300394 Swissprot Accession: Q16635;