DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5)

2007-04-01  

Identity

HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
CLN4,CLN4B,CSP,DNAJC5A,NCL,mir-941-2,mir-941-3,mir-941-4,mir-941-5
FUSION GENES

Other Information

Locus ID:

NCBI: 80331
MIM: 611203
HGNC: 16235
Ensembl: ENSG00000101152

Variants:

dbSNP: 80331
ClinVar: 80331
TCGA: ENSG00000101152
COSMIC: DNAJC5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101152ENST00000360864Q9H3Z4
ENSG00000101152ENST00000470551Q9H3Z4

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
GABA synthesis, release, reuptake and degradationREACTOMER-HSA-888590
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
218200992011Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.95
185960472008Palmitoylation and membrane interactions of the neuroprotective chaperone cysteine-string protein.53
272611982016DnaJ/Hsc70 chaperone complexes control the extracellular release of neurodegenerative-associated proteins.50
220731892011Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.39
222353332012Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.34
159728232005Characterization of the G alpha(s) regulator cysteine string protein.32
164697392006Cysteine string protein monitors late steps in cystic fibrosis transmembrane conductance regulator biogenesis.26
229027802012Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.26
190983092009Cysteine string protein promotes proteasomal degradation of the cystic fibrosis transmembrane conductance regulator (CFTR) by increasing its interaction with the C terminus of Hsp70-interacting protein and promoting CFTR ubiquitylation.25
120399482002Cysteine string protein interacts with and modulates the maturation of the cystic fibrosis transmembrane conductance regulator.23

Citation

Dessen P

DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46733/dnajc5