[1]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Colon, and Lung;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[2]
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PROTEIN SEQUENCE OF 2-20 AND 62-75, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, AND MASS SPECTROMETRY.
TISSUE=B-cell lymphoma;
Bienvenut W.V.;
Submitted (JUN-2005) to UniProtKB.
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[3]
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IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION.
DOI=10.1038/nbt793; PubMed=12592411 [NCBI, ExPASy, EBI, Israel, Japan]
Taylor S.W.,
Fahy E.,
Zhang B.,
Glenn G.M.,
Warnock D.E.,
Wiley S.,
Murphy A.N.,
Gaucher S.P.,
Capaldi R.A.,
Gibson B.W.,
Ghosh S.S.;
"Characterization of the human heart mitochondrial proteome.";
Nat. Biotechnol. 21:281-286(2003).
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[4]
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IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
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[5]
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INVOLVEMENT IN MGA5.
DOI=10.1136/jmg.2005.036657; PubMed=16055927 [NCBI, ExPASy, EBI, Israel, Japan]
Davey K.M.,
Parboosingh J.S.,
McLeod D.R.,
Chan A.,
Casey R.,
Ferreira P.,
Snyder F.F.,
Bridge P.J.,
Bernier F.P.;
"Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.";
J. Med. Genet. 43:385-393(2006).
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- FUNCTION: Probable component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity).
- SUBUNIT: Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/MAGMAS and TIMM14/DNAJC19 (By similarity).
- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Single-pass membrane protein (Probable).
- TISSUE SPECIFICITY: Ubiquitously expressed.
- DISEASE: Defects in DNAJC19 are the cause of 3-methylglutaconic aciduria type 5 (MGA5) [MIM:610198]; also known as dilated cardiomyopathy with ataxia (DCMA). MGA5 is an autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure, and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid.
- SIMILARITY: Belongs to the TIM14 family.
- SIMILARITY: Contains 1 J domain.
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