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    DNAJB14 DnaJ heat shock protein family (Hsp40) member B14 [ Homo sapiens (human) ]

    Gene ID: 79982, updated on 5-May-2024

    Summary

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    Official Symbol
    DNAJB14provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member B14provided by HGNC
    Primary source
    HGNC:HGNC:25881
    See related
    Ensembl:ENSG00000164031 MIM:617487; AllianceGenome:HGNC:25881
    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
    EGNR9427; PRO34683
    Summary
    Enables Hsp70 protein binding activity. Involved in cellular protein-containing complex assembly and chaperone cofactor-dependent protein refolding. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 7.8), thyroid (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99896248..99946618, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (103211731..103262102, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100817405..100867775, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21741 Neighboring gene dual adaptor of phosphotyrosine and 3-phosphoinositides 1 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15584 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:100870086-100870691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:100871297-100871901 Neighboring gene H2AZ1 divergent transcript Neighboring gene H2A.Z variant histone 1 Neighboring gene RPL7L1 pseudogene 14

    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. Expression of DNAJB12 or DNAJB14 causes coordinate invasion of the nucleus by membranes associated with a novel nuclear pore structure. Goodwin EC, et al. PLoS One, 2014. PMID 24732912, Free PMC Article
    2. A novel mammalian ER-located J-protein, DNAJB14, can accelerate ERAD of misfolded membrane proteins. Sopha P, et al. Cell Struct Funct, 2012. PMID 23018488
    3. Tetrameric Assembly of K(+) Channels Requires ER-Located Chaperone Proteins. Li K, et al. Mol Cell, 2017 Jan 5. PMID 27916661
    4. Phosphorylation switches protein disulfide isomerase activity to maintain proteostasis and attenuate ER stress. Yu J, et al. EMBO J, 2020 May 18. PMID 32149426, Free PMC Article
    5. A systems-wide screen identifies substrates of the SCFβTrCP ubiquitin ligase. Low TY, et al. Sci Signal, 2014 Dec 16. PMID 25515538

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNAJB12 and DNJB14 are non-redundant Hsp40 redox chaperones involved in endoplasmic reticulum protein reflux.
      Title: DNAJB12 and DNJB14 are non-redundant Hsp40 redox chaperones involved in endoplasmic reticulum protein reflux.
    2. ER-located J-protein chaperones were identified as key regulators for the iogenesis and physiological function of ERG K+ channels. They regulate two distinct aspects of K+ channel biogenesis, the stabilization and assembly of channel subunits.
      Title: Tetrameric Assembly of K(+) Channels Requires ER-Located Chaperone Proteins.
    3. Over-expression of DNAJB12 or DNAJB14 causes the formation of elaborate membranous structures within cell nuclei, designated DJANGOS for DNAJ-associated nuclear globular structures.
      Title: Expression of DNAJB12 or DNAJB14 causes coordinate invasion of the nucleus by membranes associated with a novel nuclear pore structure.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14281, FLJ37755, MGC22187

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Hsp70 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Hsp70 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 cellular response to misfolded protein IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chaperone cofactor-dependent protein refolding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chaperone cofactor-dependent protein refolding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dnaJ homolog subfamily B member 14
    Names
    DnaJ (Hsp40) homolog, subfamily B, member 14

    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_001031723.4 → NP_001026893.1  dnaJ homolog subfamily B member 14 isoform 1

      See identical proteins and their annotated locations for NP_001026893.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC097460, AL121021, AP001962, AY358272, BC022248, DA854416
      Consensus CDS
      CCDS34035.1
      UniProtKB/Swiss-Prot
      Q6UXN1, Q7Z3P0, Q86TA7, Q86TM0, Q8TBM8, Q9GZU9
      Related
      ENSP00000404381.2, ENST00000442697.7
      Conserved Domains (2) summary
      COG0484
      Location:107 → 214
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
      pfam09320
      Location:271 → 371
      DUF1977; Domain of unknown function (DUF1977)

    2. NM_001278310.2 → NP_001265239.1  dnaJ homolog subfamily B member 14 isoform 2

      See identical proteins and their annotated locations for NP_001265239.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region and initiates translation at an alternate upstream start codon. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC097460, AL121021, AL833412, AP001962, AY358272, DA854416
      UniProtKB/Swiss-Prot
      Q8TBM8
      Conserved Domains (2) summary
      COG0484
      Location:40 → 147
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
      pfam09320
      Location:204 → 304
      DUF1977; Domain of unknown function (DUF1977)

    3. NM_001278311.2 → NP_001265240.1  dnaJ homolog subfamily B member 14 isoform 3

      See identical proteins and their annotated locations for NP_001265240.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple 3' coding exons and contains two alternate 3' exons, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC097460, BF307232, DA854416
      Consensus CDS
      CCDS75171.1
      UniProtKB/TrEMBL
      A0A087WWX2, H7BZK3
      Related
      ENST00000471738.1
      Conserved Domains (1) summary
      TIGR03302
      Location:8 → 50
      OM_YfiO; outer membrane assembly lipoprotein YfiO

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      99896248..99946618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416185.1 → XP_047272141.1  dnaJ homolog subfamily B member 14 isoform X2

    2. XM_047416184.1 → XP_047272140.1  dnaJ homolog subfamily B member 14 isoform X1

    3. XM_047416186.1 → XP_047272142.1  dnaJ homolog subfamily B member 14 isoform X3

      UniProtKB/TrEMBL
      A0A087WWX2
      Related
      ENSP00000480565.1, ENST00000610281.1

    RNA

    1. XR_938772.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      103211731..103262102 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350865.1 → XP_054206840.1  dnaJ homolog subfamily B member 14 isoform X2

    2. XM_054350864.1 → XP_054206839.1  dnaJ homolog subfamily B member 14 isoform X1

    3. XM_054350866.1 → XP_054206841.1  dnaJ homolog subfamily B member 14 isoform X3

      UniProtKB/TrEMBL
      A0A087WWX2

    RNA

    1. XR_008487032.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024920.3: Suppressed sequence

      Description
      NM_024920.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBM8.1 GenPept UniProtKB/Swiss-Prot:Q8TBM8

    Gene LinkOut

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

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