| Type | Description |
|---|---|
| Definition | DnaJ heat shock protein family (Hsp40) member C12 |
| Date | Results | Publications |
|---|---|---|
| 2020-03-14 11:16:00 | Our results support a role of DNAJC12 in the processing of misfolded ubiquitinated PAH by the ubiquitin-dependent proteasome/autophagy systems and add to the evidence that the DNAJ proteins are important players both for proper folding and degradation of their clients. | 30667134 |
| 2019-06-01 11:52:00 | High DNAJC12 expression is associated with gastric Cancer. | 30617870 |
| 2019-03-30 10:21:00 | DNAJC12 mutation was identified in two siblings with developmental delay, movement disorder, and mild hyperphenylalaninemia. | 30139987 |
| 2018-12-22 10:29:00 | Molecular diagnostics for DNAJC12 variants are thus mandatory in all patients in which deficiencies of PAH and BH4 are genetically excluded. | 29174366 |
| 2018-10-20 10:19:00 | DNAJC12 mutation is not a risk factor of Parkinson's disease in Chinese Han population. | 29801756 |
| Type | IDs |
|---|---|
| Synonymous | HPANBH4, JDP1 |
| Gene |
UniProtKB-ID:
DJC12_HUMAN,
Q6IAH1_HUMAN
UniprotKB:
Q9UKB3,
Q6IAH1
UniParc:
UPI000012DAAA,
UPI000002AC54
EMBL:
AF176012,
AF176013,
CH471083,
CR457184,
AL133551,
BC017018,
AK289537
Ensembl:
ENSG00000108176
KO:
hsa:56521
|
| Nucleutide sequences |
EMBL-CDS:
AAH17018.1,
AAD52651.1,
AAD52650.1,
EAW54257.1,
EAW54255.1,
CAG33465.1,
BAF82226.1
Gene_ORFName:
hCG_32860
Ensembl_TRS:
ENST00000339758,
ENST00000225171
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000343575,
ENSP00000225171
RefSeq:
XP_016871920.1,
NP_068572.1,
NP_957714.1,
XP_016871921.1
|
| Others |
UniRef100:
UniRef100_Q9UKB3
UniRef90:
UniRef90_Q9UKB3
UniRef50:
UniRef50_Q9UKB3
UniGene:
Hs.260720
CCDS:
CCDS7271.1,
CCDS7272.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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