| Type | Description |
|---|---|
| Definition | DnaJ heat shock protein family (Hsp40) member C5 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-25 10:49:00 | Point mutations in cysteine string protein-alpha (CSP alpha) cause dominantly inherited adult-onset neuronal ceroid lipofuscinosis (ANCL). Normally palmitoylated cysteine string region of cysteine string protein alpha loses palmitoylation in ANCL mutants. | 32042150 |
| 2019-08-24 12:09:00 | Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor disturbance) Kufs disease was supported by molecular diagnoses. Type A is usually caused by recessive pathogenic variants in CLN6 or dominant variants in DNAJC5. Type B Kufs is usually associated with recessive CTSF pathogenic variants. | 30561534 |
| 2019-03-02 12:33:00 | Study demonstrate that primary dermal fibroblasts from asymptomatic mutation carriers recapitulate features of adult-neuronal ceroid lipofuscinosis (AD-ANCL) in vitro including CSPalpha-p.L115R/CSPalpha-WT aggregates and the structural and functional lysosomal dysfunction found in the brains of AD-ANCL patients. Further findings support a gain-of-function mechanism for CSPalpha mutations leading to AD-ANCL. | 28740222 |
| 2019-03-02 12:31:00 | This report describes the clinical history of autosomal dominant Kufs disease, the genetic mutation within the DNAJC5 gene, and the neuropathological findings demonstrating depletion of choline acetyltransferase in the brain. | 29506599 |
| 2018-09-08 11:20:00 | Results indicate that by assisting local lysosome/proteasome processes, CSPalpha-mediated removal of toxic proteins via extracellular vesicles plays a central role in synaptic proteostasis. | 28424476 |
| Type | IDs |
|---|---|
| Synonymous | CLN4, CLN4B, CSP, DNAJC5A, NCL, mir-941-2, mir-941-3, mir-941-4, mir-941-5 |
| Gene |
UniProtKB-ID:
DNJC5_HUMAN,
Q6AHX3_HUMAN
UniprotKB:
Q9H3Z4,
Q6AHX3
UniParc:
UPI000002A7ED,
UPI0000401FE9,
UPI000012943C
EMBL:
AL118506,
AK289585,
AK024508,
AK128776,
BC053642,
CH471077,
CR627461
Ensembl:
ENSG00000101152
KO:
hsa:80331
|
| Nucleutide sequences |
EMBL-CDS:
BAB15798.1,
EAW75192.1,
AAH53642.1,
BAG54730.1,
EAW75191.1,
BAF82274.1,
CAH10594.1
Ensembl_TRS:
ENST00000360864,
ENST00000470551
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000434744,
ENSP00000354111
RefSeq:
NP_079495.1,
XP_011527350.1,
XP_011527351.1
|
| Others |
UniRef100:
UniRef100_Q9H3Z4
UniRef90:
UniRef90_Q9H3Z4
UniRef50:
UniRef50_Q9H3Z4
UniGene:
Hs.164419
CCDS:
CCDS13546.1
|
| {{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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