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

Gene ID: 80331, updated on 5-Jan-2020

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
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

Genomic context

See DNAJC5 in Genome Data Viewer
Location:
20q13.33
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (63895126..63936026)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62526455..62567384)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268269 Neighboring gene TPD52 like 2 Neighboring gene RNA, U1 small nuclear 134, pseudogene Neighboring gene microRNA 941-1 Neighboring gene microRNA 941-2 Neighboring gene microRNA 941-3 Neighboring gene microRNA 941-4 Neighboring gene microRNA 941-5 Neighboring gene microRNA 1914 Neighboring gene uridine-cytidine kinase 1 like 1 Neighboring gene microRNA 647

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00118, FLJ13070, DKFZp434N1429, DKFZp761N1221

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chaperone-mediated protein folding IEA
Inferred from Electronic Annotation
more info
 
exocytosis NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter secretion TAS
Traceable Author Statement
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
regulated exocytosis TAS
Traceable Author Statement
more info
PubMed 
regulation of synaptic vesicle cycle IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle exocytosis TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
anchored component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
azurophil granule membrane TAS
Traceable Author Statement
more info
 
clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane TAS
Traceable Author Statement
more info
 
lysosomal membrane HDA PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
mitochondrion HDA PubMed 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 

General protein information

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)

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

  1. NG_029805.2 RefSeqGene

    Range
    5025..45910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_025219.3NP_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
    Q9H3Z4
    UniProtKB/TrEMBL
    Q6AHX3
    Related
    ENSP00000354111.4, ENST00000360864.9
    Conserved Domains (1) summary
    COG0484
    Location:1584
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    63895126..63936026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529049.1XP_011527351.1  dnaJ homolog subfamily C member 5 isoform X1

    See identical proteins and their annotated locations for XP_011527351.1

    UniProtKB/Swiss-Prot
    Q9H3Z4
    Conserved Domains (1) summary
    COG0484
    Location:1584
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
  2. XM_011529048.2XP_011527350.1  dnaJ homolog subfamily C member 5 isoform X1

    See identical proteins and their annotated locations for XP_011527350.1

    UniProtKB/Swiss-Prot
    Q9H3Z4
    Conserved Domains (1) summary
    COG0484
    Location:1584
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

RNA

  1. XR_936630.1 RNA Sequence

  2. XR_936629.2 RNA Sequence

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