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    DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 [ Homo sapiens (human) ]

    Gene ID: 9829, updated on 17-Jul-2024

    Summary

    Official Symbol
    DNAJC6provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member C6provided by HGNC
    Primary source
    HGNC:HGNC:15469
    See related
    Ensembl:ENSG00000116675 MIM:608375; AllianceGenome:HGNC:15469
    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
    DJC6; PARK19
    Summary
    DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in brain (RPKM 55.4), adrenal (RPKM 6.4) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DNAJC6 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (65264749..65415871)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (65142745..65293848)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65730432..65881554)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak272 silencer Neighboring gene mitochondrial ribosomal protein S21 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:65605473-65606012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 965 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:65614416-65615134 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:65615135-65615853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1141 Neighboring gene NANOG hESC enhancer GRCh37_chr1:65619207-65619708 Neighboring gene ribosomal protein S29 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1143 Neighboring gene adenylate kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 969 Neighboring gene uncharacterized LOC102724416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 970 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:65764980-65765192 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:65769278-65769456 Neighboring gene uncharacterized LOC112268227 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 13 Neighboring gene Sharpr-MPRA regulatory region 12103 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:65885665-65886197 and GRCh37_chr1:65886198-65886731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1144 Neighboring gene Sharpr-MPRA regulatory region 13002 Neighboring gene RNA, U2 small nuclear 15, pseudogene Neighboring gene leptin receptor overlapping transcript Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:65933067-65933623 Neighboring gene leptin receptor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66019858-66020504 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66029333-66029958 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66029959-66030582 Neighboring gene small nucleolar RNA U13

    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
    Juvenile onset Parkinson disease 19A
    MedGen: C3809811 OMIM: 615528 GeneReviews: DNAJC6 Parkinson Disease
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of the Protein C anticoagulant pathway.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0473, MGC48436, MGC129914, MGC129915

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables clathrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables clathrin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables clathrin heavy chain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables heat shock protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in clathrin coat disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in clathrin-dependent endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in clathrin-dependent endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in clathrin-dependent endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of clathrin coat assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of clathrin-dependent endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic vesicle recycling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synaptic vesicle uncoating IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic vesicle uncoating ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extrinsic component of presynaptic endocytic zone membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    auxilin
    Names
    DnaJ (Hsp40) homolog, subfamily B, member 6
    DnaJ (Hsp40) homolog, subfamily C, member 6
    putative tyrosine-protein phosphatase auxilin
    NP_001243793.1
    NP_001243794.1
    NP_055602.1

    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_033843.1 RefSeqGene

      Range
      49850..156178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256864.2NP_001243793.1  auxilin isoform 1

      See identical proteins and their annotated locations for NP_001243793.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC119800, BC109280, BX647203, DR002818
      Consensus CDS
      CCDS58004.1
      UniProtKB/Swiss-Prot
      O75061
      Related
      ENSP00000360108.4, ENST00000371069.5
      Conserved Domains (3) summary
      cd06257
      Location:918963
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      pfam10409
      Location:283421
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein
      cl26464
      Location:562829
      Atrophin-1; Atrophin-1 family
    2. NM_001256865.2NP_001243794.1  auxilin isoform 3

      See identical proteins and their annotated locations for NP_001243794.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC119800, AK296408, AL355487
      Consensus CDS
      CCDS58005.1
      UniProtKB/Swiss-Prot
      O75061
      Related
      ENSP00000263441.7, ENST00000263441.11
      Conserved Domains (2) summary
      cd06257
      Location:848893
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      pfam10409
      Location:213351
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
    3. NM_014787.4NP_055602.1  auxilin isoform 2

      See identical proteins and their annotated locations for NP_055602.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB007942, AC119800, AL355487, DC332732
      Consensus CDS
      CCDS30739.1
      UniProtKB/Swiss-Prot
      B7Z3V8, D3DQ65, D3DQ66, O75061, Q32M66, Q4G0K1, Q5T614, Q5T615
      Related
      ENSP00000378735.3, ENST00000395325.7
      Conserved Domains (2) summary
      cd06257
      Location:861906
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      pfam10409
      Location:226364
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      65264749..65415871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      65142745..65293848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)