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    DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 [ Homo sapiens (human) ]

    Gene ID: 23341, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DNAJC16provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member C16provided by HGNC
    Primary source
    HGNC:HGNC:29157
    See related
    Ensembl:ENSG00000116138 MIM:619973; AllianceGenome:HGNC:29157
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ERdj8
    Summary
    Involved in regulation of autophagosome size. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 7.4), thyroid (RPKM 5.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAJC16 in Genome Data Viewer
    Location:
    1p36.21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (15526848..15571733)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (14971546..15016429)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (15853343..15898228)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15809342-15809842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15809843-15810343 Neighboring gene chymotrypsin like elastase 2B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15826802-15827302 Neighboring gene caspase 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15831890-15832390 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:15835827-15836756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 305 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:15852999-15853502 Neighboring gene Sharpr-MPRA regulatory region 4011 Neighboring gene small Cajal body-specific RNA 21B Neighboring gene agmatinase (putative) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 308 Neighboring gene uncharacterized LOC124903854 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 6

    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. ERdj8 governs the size of autophagosomes during the formation process. Yamamoto YH, et al. J Cell Biol, 2020 Aug 3. PMID 32492081, Free PMC Article
    2. Protein Binder Toolbox for Studies of Solute Carrier Transporters. Gelová Z, et al. J Mol Biol, 2024 Aug 15. PMID 38878854
    3. Mutation specific functions of EGFR result in a mutation-specific downstream pathway activation. Erdem-Eraslan L, et al. Eur J Cancer, 2015 May. PMID 25754235
    4. Viral protein engagement of GBF1 induces host cell vulnerability through synthetic lethality. Navare AT, et al. J Cell Biol, 2022 Nov 7. PMID 36305789, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Feb 26. PMID 10231032

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ERdj8 governs the size of autophagosomes during the formation process.
      Title: ERdj8 governs the size of autophagosomes during the formation process.
    2. ERdj8 is another name for DNAJC16.
      Title: ERdj8 governs the size of autophagosomes during the formation process.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0962, DKFZp686G1298, DKFZp686N0387, DKFZp781I1547

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of autophagosome size IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dnaJ homolog subfamily C member 16
    Names
    DnaJ (Hsp40) homolog, subfamily C, member 16
    ER-resident protein ERdj8
    endoplasmic reticulum DNA J domain-containing protein 8
    novel DnaJ domain-containing protein

    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_001287811.2 → NP_001274740.1  dnaJ homolog subfamily C member 16 isoform 2

      See identical proteins and their annotated locations for NP_001274740.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AB023179, BC047363, CR749259
      Consensus CDS
      CCDS72710.1
      UniProtKB/TrEMBL
      B3KN62
      Related
      ENSP00000480224.1, ENST00000616884.4

    2. NM_015291.4 → NP_056106.1  dnaJ homolog subfamily C member 16 isoform 1 precursor

      See identical proteins and their annotated locations for NP_056106.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB023179, BC047363
      Consensus CDS
      CCDS30606.1
      UniProtKB/Swiss-Prot
      Q68D57, Q86X32, Q8N5P4, Q9Y2G8
      UniProtKB/TrEMBL
      A8K8W4
      Related
      ENSP00000365007.3, ENST00000375847.8
      Conserved Domains (2) summary
      cd02963
      Location:136 → 245
      TRX_DnaJ; TRX domain, DnaJ domain containing protein family; composed of uncharacterized proteins of about 500-800 amino acids, containing an N-terminal DnaJ domain followed by one redox active TRX domain. DnaJ is a member of the 40 kDa heat-shock protein (Hsp40) ...
      cl28246
      Location:29 → 142
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    RNA

    1. NR_109898.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB023179, AL833299, BC047363
      Related
      ENST00000475133.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      15526848..15571733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      14971546..15016429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2G8.3 GenPept UniProtKB/Swiss-Prot:Q9Y2G8

    Gene LinkOut

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

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