MitoProteome Database

MT001532

Record overview

MITO IDMT001532
Gene ID131118
SpeciesHomo sapiens (Human)
Gene NameDnaJ (Hsp40) homolog, subfamily C, member 19
Gene SymbolDNAJC19
SynonymsPAM18; TIM14; TIMM14;
Alternate namesmitochondrial import inner membrane translocase subunit TIM14; homolog of yeast TIM14;
Chromosome3
Map Location3q26.33
SummaryThe 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). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]
OrthologsView orthologs and multiple alignments for DNAJC19

Proteins

mitochondrial import inner membrane translocase subunit TIM14 isoform 1
Refseq ID:NP_660304
Protein GI:21687102
UniProt ID:Q96DA6
mRNA ID:NM_145261
Length:116
RefSeq Status:
MASTVVAVGLTIAAAGFAGRYVLQAMKHMEPQVKQVFQSLPKSAFSGGYYRGGFEPKMTKREAALILGVSPTANKGKIRDAHRRIMLLNHPDKGGSPYIA
AKINEAKDLLEGQAKK
 
N
transit_peptide: 1..18
inference: protein motif:SignalP:3.0
note: The cleavage site of the signal peptide has not been experimentally determined.
calculated_mol_wt: 1650
peptide sequence: 
MASTVVAVGLTIAAAGFA
 
mitochondrial import inner membrane translocase subunit TIM14 isoform 2
Refseq ID:NP_001177162
Protein GI:298231213
UniProt ID:Q96DA6
mRNA ID:NM_001190233
Length:91
RefSeq Status:
MKHMEPQVKQVFQSLPKSAFSGGYYRGGFEPKMTKREAALILGVSPTANKGKIRDAHRRIMLLNHPDKGGSPYIAAKINEAKDLLEGQAKK