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    DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 [ Homo sapiens (human) ]

    Gene ID: 7266, updated on 5-May-2024

    Summary

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    Official Symbol
    DNAJC7provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member C7provided by HGNC
    Primary source
    HGNC:HGNC:12392
    See related
    Ensembl:ENSG00000168259 MIM:601964; AllianceGenome:HGNC:12392
    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
    DJ11; DJC7; TPR2; TTC2
    Summary
    This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the chaperone proteins heat shock proteins 70 and 90 in an ATP-dependent manner and may function as a co-chaperone. Pseudogenes of this gene are found on chromosomes 1 and 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in brain (RPKM 25.3), lymph node (RPKM 14.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q21.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41976435..42017439, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42832931..42873970, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40128453..40169457, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATP citrate lyase Neighboring gene uncharacterized LOC124904005 Neighboring gene MPRA-validated peak2844 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:40066298-40067497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8505 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40085993-40086896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12176 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40091696-40092276 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:40102816-40102967 Neighboring gene outer dynein arm docking complex subunit 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40110957-40111564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40111565-40112170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40112171-40112776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40112777-40113382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40119287-40119844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40119845-40120402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40120403-40120960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12179 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40140463-40140963 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40139962-40140462 Neighboring gene 2',3'-cyclic nucleotide 3' phosphodiesterase Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:40162959-40163488 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:40168666-40169865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12182 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40180775-40181563 Neighboring gene NFKB inhibitor interacting Ras like 2 Neighboring gene zinc finger protein 385C Neighboring gene chromosome 17 open reading frame 113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8511

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. DnaJC7 in Amyotrophic Lateral Sclerosis. Dilliott AA, et al. Int J Mol Sci, 2022 Apr 7. PMID 35456894, Free PMC Article
    2. Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis. Tohnai G, et al. Neurobiol Aging, 2022 May. PMID 35039179
    3. Validation of the pathogenic role of rare DNAJC7 variants in Chinese patients with amyotrophic lateral sclerosis. He J, et al. Neurobiol Aging, 2021 Oct. PMID 34233860
    4. Mutations of DNAJC7 are rare in Chinese amyotrophic lateral sclerosis patients. Sun X, et al. Amyotroph Lateral Scler Frontotemporal Degener, 2021 May. PMID 32897108
    5. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Farhan SMK, et al. Nat Neurosci, 2019 Dec. PMID 31768050, Free PMC Article

    See all (143) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with ALS.
      Title: Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with ALS.
    2. DnaJC7 in Amyotrophic Lateral Sclerosis.
      Title: DnaJC7 in Amyotrophic Lateral Sclerosis.
    3. Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.
      Title: Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.
    4. Validation of the pathogenic role of rare DNAJC7 variants in Chinese patients with amyotrophic lateral sclerosis.
      Title: Validation of the pathogenic role of rare DNAJC7 variants in Chinese patients with amyotrophic lateral sclerosis.
    5. Mutations of DNAJC7 are rare in Chinese amyotrophic lateral sclerosis patients.
      Title: Mutations of DNAJC7 are rare in Chinese amyotrophic lateral sclerosis patients.
    6. results highlight DNAJC7 as a novel gene for ALS.
      Title: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
    7. The data from the current study for the first time demonstrated increased serum polyglutamylated DNAJC7 as a potential biomarker for renal cell carcinoma early detection
      Title: Reduced cytosolic carboxypeptidase 6 (CCP6) level leads to accumulation of serum polyglutamylated DNAJC7 protein: A potential biomarker for renal cell carcinoma early detection.
    8. ubiquitin-proteasomal regulation of CCRP and HSP70 are important contributors to the regulation of cytoplasmic CAR levels, and hence the ability of CAR to respond to PB or PB-like inducers
      Title: Coordinated regulation of nuclear receptor CAR by CCRP/DNAJC7, HSP70 and the ubiquitin-proteasome system.
    9. these findings strongly suggest that DnaJC7 participates in p53/MDM2 negative feedback regulatory pathway, and thereby enhancing the stability and activity of p53.
      Title: Co-chaperon DnaJC7/TPR2 enhances p53 stability and activity through blocking the complex formation between p53 and MDM2.
    10. TPR2 exhibited strong interaction with glucocorticoid receptor and progesterone receptors.
      Title: Differential impact of tetratricopeptide repeat proteins on the steroid hormone receptors.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif is identified to have a physical interaction with DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7) at amino acid residues 11-12 and 435-436 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase activator activity TAS
    Traceable Author Statement
    more info
    		  
    enables heat shock protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chaperone cofactor-dependent protein refolding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein folding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cellular response to heat TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    dnaJ homolog subfamily C member 7
    Names
    DnaJ (Hsp40) homolog, subfamily C, member 7
    TPR repeat protein 2
    tetratricopeptide repeat domain 2
    tetratricopeptide repeat protein 2

    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.

    mRNA and Protein(s)

    1. NM_001144766.3 → NP_001138238.1  dnaJ homolog subfamily C member 7 isoform 2

      See identical proteins and their annotated locations for NP_001138238.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC105024, AC125257, AK298860, BQ445927
      Consensus CDS
      CCDS45678.1
      UniProtKB/TrEMBL
      B7Z9W6
      Related
      ENSP00000394327.2, ENST00000426588.7
      Conserved Domains (4) summary
      COG0484
      Location:324 → 413
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
      sd00006
      Location:201 → 228
      TPR; TPR repeat [structural motif]
      cl26002
      Location:3 → 302
      TPR_11; TPR repeat
      cl26005
      Location:197 → 297
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    2. NM_003315.4 → NP_003306.3  dnaJ homolog subfamily C member 7 isoform 1

      See identical proteins and their annotated locations for NP_003306.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC011837, BQ445927, BX647209
      Consensus CDS
      CCDS45677.1
      UniProtKB/Swiss-Prot
      Q7Z784, Q99615
      UniProtKB/TrEMBL
      A0A6I8PU73
      Related
      ENSP00000406463.2, ENST00000457167.9
      Conserved Domains (4) summary
      PLN03088
      Location:253 → 353
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      COG0484
      Location:380 → 469
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
      TIGR00990
      Location:19 → 353
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:257 → 284
      TPR; TPR repeat [structural motif]

    RNA

    1. NR_029431.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC105024, BC003601, BQ445927
      Related
      ENST00000588814.5

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      41976435..42017439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525167.4 → XP_011523469.1  dnaJ homolog subfamily C member 7 isoform X1

      See identical proteins and their annotated locations for XP_011523469.1

      UniProtKB/TrEMBL
      B7Z9W6
      Related
      ENSP00000313311.7, ENST00000316603.12
      Conserved Domains (4) summary
      COG0484
      Location:324 → 413
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
      sd00006
      Location:201 → 228
      TPR; TPR repeat [structural motif]
      cl26002
      Location:3 → 302
      TPR_11; TPR repeat
      cl26005
      Location:197 → 297
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    2. XM_011525169.4 → XP_011523471.1  dnaJ homolog subfamily C member 7 isoform X1

      See identical proteins and their annotated locations for XP_011523471.1

      UniProtKB/TrEMBL
      B7Z9W6
      Related
      ENSP00000501364.1, ENST00000674166.1
      Conserved Domains (4) summary
      COG0484
      Location:324 → 413
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
      sd00006
      Location:201 → 228
      TPR; TPR repeat [structural motif]
      cl26002
      Location:3 → 302
      TPR_11; TPR repeat
      cl26005
      Location:197 → 297
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    3. XM_017024994.3 → XP_016880483.1  dnaJ homolog subfamily C member 7 isoform X1

      UniProtKB/TrEMBL
      B7Z9W6
      Related
      ENSP00000501366.1, ENST00000674252.1
      Conserved Domains (4) summary
      COG0484
      Location:324 → 413
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
      sd00006
      Location:201 → 228
      TPR; TPR repeat [structural motif]
      cl26002
      Location:3 → 302
      TPR_11; TPR repeat
      cl26005
      Location:197 → 297
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    RNA

    1. XR_007065438.1 RNA Sequence

    2. XR_001752603.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      42832931..42873970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317039.1 → XP_054173014.1  dnaJ homolog subfamily C member 7 isoform X1

    2. XM_054317040.1 → XP_054173015.1  dnaJ homolog subfamily C member 7 isoform X1

    3. XM_054317041.1 → XP_054173016.1  dnaJ homolog subfamily C member 7 isoform X1

    RNA

    1. XR_008484930.1 RNA Sequence

    2. XR_008484931.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99615.2 GenPept UniProtKB/Swiss-Prot:Q99615

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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