Property Summary

NCBI Gene PubMed Count 40
Grant Count 1
Funding $185,250
PubMed Score 14.01
PubTator Score 141.29

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytic glioma -1.200 0.015
osteosarcoma -2.458 0.000
posterior fossa group A ependymoma -1.500 0.000
glioblastoma -1.700 0.000
medulloblastoma -1.500 0.000
atypical teratoid / rhabdoid tumor -1.900 0.000
medulloblastoma, large-cell -2.000 0.000
primitive neuroectodermal tumor -1.200 0.000
adult high grade glioma -1.500 0.000
pilocytic astrocytoma -1.100 0.000
subependymal giant cell astrocytoma -1.180 0.011
ovarian cancer 2.000 0.000

Synonym

Accession Q9H3Z4 A8K0M0 B3KY68 E1P5G8 Q9H3Z5 Q9H7H2
Symbols CSP
NCL
CLN4
CLN4B
DNAJC5A
mir-941-2
mir-941-3
mir-941-4
mir-941-5

Gene

 Grant Application (1)

PDB

2N04   2N05  

 GO Function (1)

Gene RIF (17)

PMID Text
26610600 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.
25631211 the presynaptic vesicle protein CSPalpha is a key player in synaptic degeneration and protection in Alzheimer's disease.
24126164 Missense mutations in DNAJC5 does not play a major role in PD in the Chinese population.
24047968 HSP40C5 (DNAJC5) inhibits HIV-1 production as measured by the level of viral p24 capsid in the culture supernatant
22978711 Results indicate of a p.L116del mutation in DNAJC5 from families with autosomal dominant Kufs disease.
22902780 Palmitoylation-induced aggregation of mutant CSP-alpha proteins may underlie the development of adult-onset neuronal ceroid lipofuscinosis
22235333 association of DNAJC5 mutations with autosomal dominant Kufs disease
22073189 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
21820099 A neuroprotective role for CSPalpha in humans is confirmed.
19098309 Csp not only regulates the exit of CFTR from the ER, but this action is accompanied by Hsc70/Hsp70 and CHIP-mediated CFTR degradation.
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AA Sequence

MADQRQRSLSTSGESLYHVLGLDKNATSDDIKKSYRKLALKYHPDKNPDNPEAADKFKEINNAHAILTDA      1 - 70
TKRNIYDKYGSLGLYVAEQFGEENVNTYFVLSSWWAKALFVFCGLLTCCYCCCCLCCCFNCCCGKCKPKA     71 - 140
PEGEETEFYVSPEDLEAQLQSDEREATDTPIVIQPASATETTQLTADSHPSYHTDGFN                141 - 198
//

Text Mined References (51)

PMID Year Title
26610600 2015 Clinically early-stage CSP? mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25631211 2015 Evidence that the presynaptic vesicle protein CSPalpha is a key player in synaptic degeneration and protection in Alzheimer's disease.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24126164 2014 DNAJ mutations are rare in Chinese Parkinson's disease patients and controls.
23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22978711 2013 Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
22902780 2012 Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.
More...