Property Summary

NCBI Gene PubMed Count 16
Grant Count 5
R01 Count 2
Funding $172,356.8
PubMed Score 23.76
PubTator Score 12.87

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
medulloblastoma, large-cell -1.200 0.000

Synonym

Accession Q96DA6 B2R4B1 C9JBV1
Symbols PAM18
TIM14
TIMM14

Gene

Gene RIF (4)

PMID Text
24856930 The loss of DNAJC19/PHB complexes affects cardiolipin acylation and leads to the accumulation of cardiolipin species with altered acyl chains.
22797137 A report of a new mutation in the human DNAJC19 gene that causes early onset dilated cardiomyopathy syndrome in two brothers of Finnish origin.
17244376 Dilated cardiomyopathy caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins.
16055927 The association of dilated cardiomyopathy with ataxia (DCMA) syndrome with a segment of 3q26.33 and the identification of a splice mutation in a novel gene DNAJC19 in DCMA patients.

AA Sequence

MASTVVAVGLTIAAAGFAGRYVLQAMKHMEPQVKQVFQSLPKSAFSGGYYRGGFEPKMTKREAALILGVS      1 - 70
PTANKGKIRDAHRRIMLLNHPDKGGSPYIAAKINEAKDLLEGQAKK                             71 - 116
//

Text Mined References (23)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24856930 2014 DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22797137 2012 New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.
21269460 2011 Initial characterization of the human central proteome.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20053669 2010 Role of Magmas in protein transport and human mitochondria biogenesis.
19564938 2009 The mitochondrial protein translocation motor: structural conservation between the human and yeast Tim14/Pam18-Tim16/Pam16 co-chaperones.
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