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

Gene ID: 79982, updated on 27-Nov-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 chaperone cofactor-dependent protein refolding and protein-containing complex assembly. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 7.8), thyroid (RPKM 6.8) and 25 other tissues See more
Orthologs
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Genomic context

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See DNAJB14 in Genome Data Viewer
Location:
4q23
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99896248..99946618, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (103211731..103262102, complement)
RS_2024_09 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. DNAJB12 and DNJB14 are non-redundant Hsp40 redox chaperones involved in endoplasmic reticulum protein reflux. Purificação ADD, et al. Biochim Biophys Acta Gen Subj, 2024 Jan. PMID 37925033
  3. 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
  4. Tetrameric Assembly of K(+) Channels Requires ER-Located Chaperone Proteins. Li K, et al. Mol Cell, 2017 Jan 5. PMID 27916661
  5. 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

See all (35) 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)

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_2024_08

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

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