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    DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 [ Homo sapiens (human) ]

    Gene ID: 54943, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DNAJC28provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member C28provided by HGNC
    Primary source
    HGNC:HGNC:1297
    See related
    Ensembl:ENSG00000177692 AllianceGenome:HGNC:1297
    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
    C21orf55; C21orf78
    Summary
    This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein. [provided by RefSeq, Oct 2016]
    Expression
    Broad expression in testis (RPKM 4.6), thyroid (RPKM 2.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    21q22.11
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33488055..33491716, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31869887..31873548, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34860362..34864023, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene interferon gamma receptor 2 Neighboring gene transmembrane protein 50B Neighboring gene RPS5 pseudogene 3 Neighboring gene phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:34903402-34904601 Neighboring gene basic transcription factor 3 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13260 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:34914753-34915484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13261 Neighboring gene microRNA 6501 Neighboring gene SON DNA and RNA binding protein

    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. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. Gardiner K, et al. Genomics, 2002 Jun. PMID 12036298
    2. A systematic survey of loss-of-function variants in human protein-coding genes. MacArthur DG, et al. Science, 2012 Feb 17. PMID 22344438, Free PMC Article
    3. Identification of a large set of rare complete human knockouts. Sulem P, et al. Nat Genet, 2015 May. PMID 25807282
    4. Promyelocytic leukemia protein interacts with the apoptosis-associated speck-like protein to limit inflammasome activation. Dowling JK, et al. J Biol Chem, 2014 Mar 7. PMID 24407287, Free PMC Article
    5. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Rausell A, et al. Proc Natl Acad Sci U S A, 2020 Jun 16. PMID 32487729, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog

    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

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dnaJ homolog subfamily C member 28
    Names
    DnaJ (Hsp40) homolog, subfamily C, member 28

    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.

    Genomic

    1. NG_051991.1 RefSeqGene

      Range
      5008..8669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040192.3 → NP_001035282.1  dnaJ homolog subfamily C member 28

      See identical proteins and their annotated locations for NP_001035282.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AI825667, BC029509, CB241459
      Consensus CDS
      CCDS13626.1
      UniProtKB/Swiss-Prot
      D3DSF2, Q9NX36
      Related
      ENSP00000371373.3, ENST00000381947.4
      Conserved Domains (3) summary
      cd06257
      Location:51 → 104
      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, ...
      PLN03085
      Location:200 → 338
      PLN03085; nucleobase:cation symporter-1; Provisional
      pfam09350
      Location:203 → 271
      DUF1992; Domain of unknown function (DUF1992)

    2. NM_001320746.3 → NP_001307675.1  dnaJ homolog subfamily C member 28

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AP000302
      Consensus CDS
      CCDS13626.1
      UniProtKB/Swiss-Prot
      D3DSF2, Q9NX36
      Conserved Domains (3) summary
      cd06257
      Location:51 → 104
      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, ...
      PLN03085
      Location:200 → 338
      PLN03085; nucleobase:cation symporter-1; Provisional
      pfam09350
      Location:203 → 271
      DUF1992; Domain of unknown function (DUF1992)

    3. NM_017833.5 → NP_060303.2  dnaJ homolog subfamily C member 28

      See identical proteins and their annotated locations for NP_060303.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AI825667, AK000468, CB241459, DA249316
      Consensus CDS
      CCDS13626.1
      UniProtKB/Swiss-Prot
      D3DSF2, Q9NX36
      Related
      ENSP00000320303.3, ENST00000314399.3
      Conserved Domains (3) summary
      cd06257
      Location:51 → 104
      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, ...
      PLN03085
      Location:200 → 338
      PLN03085; nucleobase:cation symporter-1; Provisional
      pfam09350
      Location:203 → 271
      DUF1992; Domain of unknown function (DUF1992)

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      33488055..33491716 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315970.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      92184..95846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      31869887..31873548 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NX36.2 GenPept UniProtKB/Swiss-Prot:Q9NX36

    Gene LinkOut

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

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