DNAJB12 - DnaJ heat shock protein family (Hsp40) member B12 Gene
Also Known as DJ10
Species: Homo sapiens
About DNAJB12
This gene has 6 transcripts (splice variants), 283 orthologues and 11 paralogues. Ubiquitous expression in testis (RPKM 9.5), kidney (RPKM 9.2) and 25 other tissues.
Summary
DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
DNAJB12 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001002762.5 | NP_001002762.3 | dnaJ homolog subfamily B member 12 isoform 1 |
| NM_001365080.3 | NP_001352009.1 | dnaJ homolog subfamily B member 12 isoform 2 |
| NM_001365081.3 | NP_001352010.1 | dnaJ homolog subfamily B member 12 isoform 1 |
| NM_017626.7 | NP_060096.4 | dnaJ homolog subfamily B member 12 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables Hsp70 protein binding |
IPI
IPI: Inferred from physical interaction
|
21148293 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in ERAD pathway |
IDA
IDA: Inferred from direct assay
|
21148293 | GOA |
| involved in cellular response to misfolded protein |
IDA
IDA: Inferred from direct assay
|
21148293 | GOA |
| involved in chaperone cofactor-dependent protein refolding |
IDA
IDA: Inferred from direct assay
|
27916661 | GOA |
| involved in protein-containing complex assembly |
IDA
IDA: Inferred from direct assay
|
27916661 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
27916661 | GOA |
| located in endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
21148293 | GOA |
DNAJB12 Protein Structure
DnaJ: DnaJ domain (144 - 205)
DUF1977: Domain of unknown function (DUF1977) (296 - 402)
- 0
- 100
- 200
- 300
- 409 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dnaJ homolog subfamily B member 12 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Niemann-Pick Disease, Type C2 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | DNAJB12 | MGD | MGI:1931881 |
| Rattus norvegicus | DNAJB12 | RGD | RGD:1359677 |
| Bos taurus | DNAJB12 | VGNC | VGNC:55983 |
| Macaca mulatta | DNAJB12 | VGNC | VGNC:106032 |
| Others | DNAJB12 | NCBI |