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Description for Protein DNAJC19

DnaJ (Hsp40) homolog, subfamily C, member 19
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • DNAJ: DnaJ molecular chaperone homology domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09539
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    DnaJ (Hsp40) homolog, subfamily C, member 19; TIMM14; Translocase of the inner mitochondrial membrane 14 isoform a; TIM14; Similar to RIKEN cDNA 1810055D05
    Approved Symbol:
    DNAJC19
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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:

  • 3-@methylglutaconic aciduria, type V(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 0
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 12349 Entrez Gene ID: 131118 OMIM ID: 608977 Swissprot Accession: Q96DA6;