DNAJC19
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| DnaJ heat shock protein family (Hsp40) member C19 | MIM:608977 | Ensembl:ENSG00000205981 | HGNC:HGNC:30528 | PA142671967 | 3q26.33 |
GO terms in DNAJC19
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0001671 | ATPase activator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0008565 | protein transporter activity |
| CC | IBA | GO:0001405 | presequence translocase-associated import motor |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005743 | mitochondrial inner membrane |
| CC | NAS | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0032991 | protein-containing complex |
| BP | NAS | GO:0006457 | protein folding |
| BP | NAS | GO:0006626 | protein targeting to mitochondrion |
| BP | IMP | GO:0007601 | visual perception |
| BP | IBA | GO:0030150 | protein import into mitochondrial matrix |
| BP | IMP | GO:0048806 | genitalia development |
Gene expression in normal tissue: DNAJC19
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DNAJC19
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1268020 | Mitochondrial protein import |
| reactome | R-HSA-392499 | Metabolism of proteins |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DNAJC19
CLASSFICATION
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