DNAJC5 - DnaJ heat shock protein family (Hsp40) member C5 Gene
Also Known as CSP; NCL; CLN4; CLN4B; DNAJC5A; mir-941-2; mir-941-3; mir-941-4; mir-941-5
Species: Homo sapiens
About DNAJC5
This gene has 3 transcripts (splice variants), 281 orthologues, 20 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 26.3), esophagus (RPKM 19.9) and 25 other tissues.
Summary
This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]
DNAJC5 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_025219.3 | NP_079495.1 | dnaJ homolog subfamily C member 5 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
29997244 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
21820099 | GOA |
DNAJC5 Protein Structure
DnaJ: DnaJ domain (16 - 77)
- 0
- 100
- 198 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dnaJ homolog subfamily C member 5 |
|
DNAJC5 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DNAJC5 | Q9H3Z4 | ZDHHC17 | Homo sapiens | Q8IUH5 | 29997244 | |
|
Intra
|
DNAJC5 | Q9H3Z4 | ZDHHC17 | Homo sapiens | Q8IUH5 | 29997244 | |
|
Intra
|
DNAJC5 | Q9H3Z4 | ZDHHC17 | Homo sapiens | Q8IUH5 | 33961781 | |
|
Intra
|
DNAJC5 | Q9H3Z4 | ZDHHC17 | Homo sapiens | Q8IUH5 | 29997244 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ceroid Lipofuscinosis, Neuronal, 4 |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Ceroid Lipofuscinosis, Neuronal, 6b |
|
|
| Cystic Fibrosis |
|
|
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
|
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
|
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
|
| Retinitis Pigmentosa 72 |
|
|
| Progressive Myoclonus Epilepsy 3 |
|
|
| Plasmodium Malariae Malaria |
|
|
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
|
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
|
| Retinitis Pigmentosa 90 |
|
|
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
|
| Plasmodium Vivax Malaria |
|
|
| Mucopolysaccharidosis, Type Iiia |
|
|
| Malaria |
|
|
| Mucopolysaccharidosis Iii |
|
|
| Progressive Myoclonus Epilepsy |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | DNAJC5 | VGNC | VGNC:107787 |
| Rattus norvegicus | DNAJC5 | RGD | RGD:620516 |
| Felis catus | DNAJC5 | VGNC | VGNC:80084 |
| Mus musculus | DNAJC5 | MGD | MGI:892995 |
| Others | DNAJC5 | NCBI |