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

    Gene ID: 80331, updated on 17-Jun-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DNAJC5 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63895126..63936011)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65714973..65755860)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62526479..62567364)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18254 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:62495674-62496873 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62497355-62498074 Neighboring gene abhydrolase domain containing 16B Neighboring gene TPD52 like 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61287 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61295 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_61302 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62517585-62517755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62525794-62526321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62541709-62542208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62543630-62544130 Neighboring gene RNA, U1 small nuclear 134, pseudogene Neighboring gene uncharacterized LOC124904951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62551107-62551809 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 H3K4me1 hESC enhancer GRCh37_chr20:62563589-62564090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62573671-62574384 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

    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

    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

    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 PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA 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 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

    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)

    NEW Try the new Transcript table

    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), LRG_831

    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
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      63895126..63936011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440509.1XP_047296465.1  dnaJ homolog subfamily C member 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
    2. XM_047440511.1XP_047296467.1  dnaJ homolog subfamily C member 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
    3. XM_047440508.1XP_047296464.1  dnaJ homolog subfamily C member 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
    4. XM_047440510.1XP_047296466.1  dnaJ homolog subfamily C member 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
    5. XM_011529048.3XP_011527350.1  dnaJ homolog subfamily C member 5 isoform X1

      See identical proteins and their annotated locations for XP_011527350.1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
      Conserved Domains (1) summary
      COG0484
      Location:1584
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
    6. XM_047440512.1XP_047296468.1  dnaJ homolog subfamily C member 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
      Related
      ENSP00000515413.1, ENST00000703637.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      65714973..65755860
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324041.1XP_054180016.1  dnaJ homolog subfamily C member 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
    2. XM_054324043.1XP_054180018.1  dnaJ homolog subfamily C member 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
    3. XM_054324045.1XP_054180020.1  dnaJ homolog subfamily C member 5 isoform X2

    4. XM_054324040.1XP_054180015.1  dnaJ homolog subfamily C member 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
    5. XM_054324042.1XP_054180017.1  dnaJ homolog subfamily C member 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
    6. XM_054324039.1XP_054180014.1  dnaJ homolog subfamily C member 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2
    7. XM_054324044.1XP_054180019.1  dnaJ homolog subfamily C member 5 isoform X1

      UniProtKB/Swiss-Prot
      A8K0M0, B3KY68, E1P5G8, Q9H3Z4, Q9H3Z5, Q9H7H2