MitoProteome Database

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MT001532

UniProt Annotations

Entry Information

Gene Name	DnaJ (Hsp40) homolog, subfamily C, member 19
Protein Entry	TIM14_HUMAN
UniProt ID	Q96DA6
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96DA6-1; Sequence=Displayed; Name=2; IsoId=Q96DA6-2; Sequence=VSP_047119; Note=Gene prediction based on EST data.;
Disease	3-methylglutaconic aciduria 5 (MGA5) [MIM:610198]: 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. {ECO:0000269\|PubMed:16055927}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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). {ECO:0000250}.
Similarity	Belongs to the TIM14 family. {ECO:0000305}.
Similarity	Contains 1 J domain. {ECO:0000255\|PROSITE- ProRule:PRU00286}.
Subcellular Location	Mitochondrion inner membrane {ECO:0000305\|PubMed:12592411}; Single-pass membrane protein {ECO:0000305\|PubMed:12592411}.
Subunit	Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19. {ECO:0000250}.
Tissue Specificity	Ubiquitously expressed.