DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJC5provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member C5provided by HGNC
Primary source: HGNC:HGNC:16235
See related: Ensembl:ENSG00000101152 MIM:611203; AllianceGenome:HGNC:16235
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CSP; NCL; CLN4; CLN4B; DNAJC5A; mir-941-2; mir-941-3; mir-941-4; mir-941-5
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]
Expression: Ubiquitous expression in brain (RPKM 26.3), esophagus (RPKM 19.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (63895126..63936011)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (65714973..65755860)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (62526479..62567364)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LINC00624 affects hepatocellular carcinoma proliferation and apoptosis through the miR-342-3p/DNAJC5 axis.
Title: LINC00624 affects hepatocellular carcinoma proliferation and apoptosis through the miR-342-3p/DNAJC5 axis.
The molecular chaperone cysteine string protein is required for monomeric SNARE proteins to assemble in trans-complexes during human sperm acrosomal exocytosisdagger.
Title: The molecular chaperone cysteine string protein is required for monomeric SNARE proteins to assemble in trans-complexes during human sperm acrosomal exocytosis†.
Unconventional secretion of alpha-synuclein mediated by palmitoylated DNAJC5 oligomers.
Title: Unconventional secretion of α-synuclein mediated by palmitoylated DNAJC5 oligomers.
Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPalpha mutants causes lipofuscin accumulation.
Title: Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation.
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
Title: Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
DNAJC5 promotes hepatocellular carcinoma cells proliferation though regulating SKP2 mediated p27 degradation.
Title: DNAJC5 promotes hepatocellular carcinoma cells proliferation though regulating SKP2 mediated p27 degradation.
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Title: Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
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.
Title: Aggregation of mutant cysteine string protein-α via Fe-S cluster binding is mitigated by iron chelators.
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.
Title: Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
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.
Title: Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) MedGen: C1834207 OMIM: 162350 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	HSP40C5 (DNAJC5) inhibits HIV-1 production as measured by the level of viral p24 capsid in the culture supernatant	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47533 (e-PCR)
- UniSTS:91170

RH39006 (e-PCR)
- UniSTS:87014

RH64138 (e-PCR)
- UniSTS:92137

Clone Names

FLJ00118, FLJ13070, DKFZp434N1429, DKFZp761N1221

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP-dependent protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chaperone-mediated protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in exocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulated exocytosis	TAS Traceable Author Statement more info	PubMed
involved_in regulation of synaptic vesicle cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle exocytosis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in chromaffin granule membrane	IEA Inferred from Electronic Annotation more info
located_in clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS Traceable Author Statement more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	HDA more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in presynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dnaJ homolog subfamily C member 5

Names: DnaJ (Hsp40) homolog, subfamily C, member 5; ceroid-lipofuscinosis neuronal protein 4; cysteine string protein alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029805.2 RefSeqGene

Range

5025..45910

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_831

mRNA and Protein(s)

NM_025219.3 → NP_079495.1 dnaJ homolog subfamily C member 5

See identical proteins and their annotated locations for NP_079495.1

Status: REVIEWED

Source sequence(s)

BC053642, CR627461, DB452738

Consensus CDS

CCDS13546.1

UniProtKB/Swiss-Prot

A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2

Related

ENSP00000354111.4, ENST00000360864.9

Conserved Domains (1) summary

COG0484
Location:15 → 84

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]