Recombinant Human DnaJ homolog subfamily C member 5 (DNAJC5)

1. 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. PMID: 28424476
2. The importance of specific residues in the cysteine-string domain was investigated, revealing that a central core of palmitoylated cysteines is essential for aggregation of adult-onset neuronal ceroid lipofuscinosis CSPalpha L115R/L116 mutants. PMID: 28127059
3. Phosphorylation of CSP triggers a major conformational switch that modulates its protein interactions. PMID: 27452402
4. In fact, DnaJC5 overexpression induced tau release in cells, neurons, and brain tissue, but only when activity of the chaperone Hsc70 was intact and when tau was able to associate with this chaperone. PMID: 27261198
5. This study demonstrated that Neuronal ceroid lipofuscinosis with DNAJC5/CSPalpha mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. PMID: 26659577
6. These results suggest that the degeneration seen in the patients with AD-ANCL reported here might be a consequence of both the early effects of CSPalpha mutations at the cellular soma. PMID: 26610600
7. the presynaptic vesicle protein CSPalpha is a key player in synaptic degeneration and protection in Alzheimer's disease. PMID: 25631211
8. Missense mutations in DNAJC5 does not play a major role in PD in the Chinese population. PMID: 24126164
9. Results indicate of a p.L116del mutation in DNAJC5 from families with autosomal dominant Kufs disease. PMID: 22978711
10. Palmitoylation-induced aggregation of mutant CSP-alpha proteins may underlie the development of adult-onset neuronal ceroid lipofuscinosis PMID: 22902780
11. association of DNAJC5 mutations with autosomal dominant Kufs disease PMID: 22235333
12. This is the first replication study of the identification of DNAJC5 as the disease-causing gene for autosomal dominant ANCL. The identification of the novel gene in ANCL will allow us to gain a better understanding of the pathological mechanism of ANCLs PMID: 22073189
13. A neuroprotective role for CSPalpha in humans is confirmed. PMID: 21820099
14. First evidence that CSP and HSP70, and their interactions with MARCKS, are involved in mucin secretion from airway epithelium. PMID: 18314541
15. Csp not only regulates the exit of CFTR from the ER, but this action is accompanied by Hsc70/Hsp70 and CHIP-mediated CFTR degradation. PMID: 19098309
16. Csp has a role in regulated CFTR trafficking at the plasma membrane. [CYSTEINE STRING PROTEIN] PMID: 12039948
17. Cysteine string protein inhibits N-type calcium channels, but is blocked by mutant huntingtin PMID: 14570907
18. CSP modulates G protein function by preferentially targeting the inactive GDP-bound form of G alpha(s) and promoting GDP/GTP exchange; the guanine nucleotide exchange activity of full-length CSP is regulated by Hsc70-SGT PMID: 15972823
19. Cysteine string protein monitors late steps in cystic fibrosis transmembrane conductance regulator biogenesis PMID: 16469739
20. palmitoylation of CSP is enhanced specifically by co-expression of the Golgi-localized palmitoyl transferases DHHC3, DHHC7, DHHC15, or DHHC17 PMID: 18596047
21. Has a role in exocytosis of large dense core vesicles. PMID: 10194413

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HGNC: 16235

OMIM: 162350

KEGG: hsa:80331

STRING: 9606.ENSP00000354111

UniGene: Hs.164419