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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). 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]
DNAJC19 (DnaJ Heat Shock Protein Family (Hsp40) Member C19) is a Protein Coding gene. Diseases associated with DNAJC19 include 3-Methylglutaconic Aciduria, Type V and 3-Methylglutaconic Aciduria. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. An important paralog of this gene is DNAJC15.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001671 | ATPase activator activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 19564938 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001405 | PAM complex, Tim23 associated import motor | IBA | 21873635 |
GO:0005739 | mitochondrion | IEA,IDA | 12592411 |
GO:0005743 | mitochondrial inner membrane | IDA | 20053669 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | NAS | 16055927 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Mitochondrial protein import |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006457 | protein folding | NAS | 16055927 |
GO:0006626 | protein targeting to mitochondrion | NAS | 16055927 |
GO:0007601 | visual perception | IMP | 16055927 |
GO:0015031 | protein transport | IEA | -- |
GO:0030150 | protein import into mitochondrial matrix | IBA | 21873635 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DNAJC19 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DNAJC19 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | DNAJC19 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dnajc19 30 17 31 |
|
OneToOne | |
Dnajc19-ps 17 |
|
|
|||
Oppossum (Monodelphis domestica) |
Mammalia | DNAJC19 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DNAJC19 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DNAJC19 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DNAJC19 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dnajc19 30 |
|
||
Str.7072 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | dnajc19 30 31 |
|
OneToOne | |
zgc73251 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10044 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7394 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003533 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | dnj-21 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PAM18 31 |
|
OneToMany | |
MDJ2 33 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G35795 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0192300 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | tim14 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00075 30 |
|
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
672546 | Likely Benign: not provided | 180,987,314(-) | A/G | INTRON_VARIANT | |
676303 | Likely Benign: not provided | 180,985,797(-) | C/T | INTRON_VARIANT | |
676722 | Likely Benign: not provided | 180,986,848(-) | G/C | INTRON_VARIANT | |
705383 | Benign: 3-methylglutaconic aciduria type V | 180,986,003(-) | A/T | INTRON_VARIANT | |
779507 | Likely Benign: 3-methylglutaconic aciduria type V | 180,985,923(-) | T/TA | SPLICE_DONOR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
3-methylglutaconic aciduria, type v |
|
|
3-methylglutaconic aciduria |
|
|
barth syndrome |
|
|
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome |
|
|
cardiomyopathy, dilated, 1h |
|
|