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DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_025219 Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA. GenEZ ORF Cloning On-demand $399.00 14

*Business Day

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Gene Symbol DNAJC5
Entrez Gene ID 80331
Full Name DnaJ (Hsp40) homolog, subfamily C, member 5
Synonyms CLN4, CLN4B, CSP, DNAJC5A, NCL
General protein information
Preferred Names
dnaJ homolog subfamily C member 5
Names
dnaJ homolog subfamily C member 5
cysteine string protein alpha
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

20

20q13.33

Summary This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010].
Disorder

MIM: 611203

mRNA Protein Product Sequence Price Select
NM_025219, 313103004 NP_079495, 45504382 dnaJ homolog subfamily C member 5 ORF Sequence $250.00
KEGG
hsa04141Protein processing in endoplasmic reticulum
Reactome
REACT_13723Neurotransmitter Release Cycle
REACT_13477Transmission across Chemical Synapses
REACT_13685Neuronal System
REACT_23947GABA synthesis, release, reuptake and degradation
Homo sapiens (human)DNAJC5NP_079495.1
Pan troglodytes (chimpanzee)DNAJC5XP_530321.2
Macaca mulatta (Rhesus monkey)DNAJC5XP_001084014.1
Canis lupus familiaris (dog)DNAJC5XP_005635371.1
Bos taurus (cattle)DNAJC5NP_776958.2
Mus musculus (house mouse)Dnajc5NP_058055.1
Rattus norvegicus (Norway rat)Dnajc5NP_077075.1
Gallus gallus (chicken)DNAJC5NP_001264937.1
Danio rerio (zebrafish)dnajc5aaNP_001002464.1
Danio rerio (zebrafish)dnajc5abXP_001338363.1
Drosophila melanogaster (fruit fly)CspNP_524213.1
Process
IDNameEvidence
GO:0007268synaptic transmissionTAS
GO:0007269neurotransmitter secretionTAS
GO:0008219cell deathIEA
GO:0043524negative regulation of neuron apoptotic processIEA
Component
IDNameEvidence
GO:0005739mitochondrionIDA
GO:0005765lysosomal membraneIDA
GO:0005886plasma membraneIDA
GO:0005886plasma membraneTAS
GO:0008021synaptic vesicleIEA
GO:0016020membraneIDA
GO:0042470melanosomeIEA
GO:0061202clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0001948glycoprotein bindingIEA
GO:0043008ATP-dependent protein bindingIEA
GeneCards DNAJC5
UniProt Q6AHX3, Q9H3Z4
Vega OTTHUMG00000033007
MIM 611203
Ensembl ENSG00000101152
HGNC 16235
HPRD 08539

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the DNAJC5 gene?

The DNAJC5 provides instructions for making a protein called cysteine string protein alpha (CSPα). This protein is found in the brain, where it plays a role in the transmission of nerve impulses. CSPα helps sac-like structures called synaptic vesicles attach to nerve cells. Synaptic vesicles contain chemical messengers that transmit signals from one nerve cell to another.

Researchers suspect that CSPα may also help repair proteins that are involved in the transmission of nerve impulses by re-folding any that have the incorrect 3-dimensional shape.

Interactant

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