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

    Gene ID: 80331, updated on 8-Apr-2018
    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; Vega:OTTHUMG00000033007
    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
    See DNAJC5 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (63895102..63936031)
    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 tumor protein D52 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

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    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ00118, FLJ13070, DKFZp434N1429, DKFZp761N1221

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    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 
    synaptic vesicle exocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    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 
    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
     
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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_029805.1 RefSeqGene

      Range
      5001..45930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025219.2NP_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, OTTHUMP00000031609, ENST00000360864.8, OTTHUMT00000080244
      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 Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

      Range
      63895102..63936031
      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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