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    DNAJC14 DnaJ heat shock protein family (Hsp40) member C14 [ Homo sapiens (human) ]

    Gene ID: 85406, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DNAJC14provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member C14provided by HGNC
    Primary source
    HGNC:HGNC:24581
    See related
    Ensembl:ENSG00000135392 MIM:606092; AllianceGenome:HGNC:24581
    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
    DNAJ; HDJ3; LIP6; DRIP78
    Summary
    Predicted to enable dopamine receptor binding activity. Predicted to be involved in protein transport. Located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 16.8), thyroid (RPKM 12.6) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See DNAJC14 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55820985..55830775, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55787629..55797421, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56214769..56224559, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56122619-56123225 Neighboring gene CD63 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6459 Neighboring gene CD63 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4537 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56140299-56140802 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:56140803-56141306 Neighboring gene growth differentiation factor 11 Neighboring gene SAP domain containing ribonucleoprotein Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:56192003-56192504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4538 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56223947-56224684 Neighboring gene ORMDL sphingolipid biosynthesis regulator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6460 Neighboring gene transmembrane protein 198B (pseudogene) Neighboring gene matrix metallopeptidase 19 Neighboring gene OLA1 pseudogene 3

    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. Molecular cloning and characterization of a novel human J-domain protein gene (HDJ3) from the fetal brain. Chen J, et al. J Hum Genet, 2003. PMID 12768437
    2. Flavivirus replication complex assembly revealed by DNAJC14 functional mapping. Yi Z, et al. J Virol, 2012 Nov. PMID 22915803, Free PMC Article
    3. A polyaromatic caveolin-binding-like motif in the cytoplasmic tail of the type 1 receptor for angiotensin II plays an important role in receptor trafficking and signaling. Leclerc PC, et al. Endocrinology, 2002 Dec. PMID 12446598
    4. Accessory proteins in the biogenesis of G protein-coupled receptors. Bermak JC, et al. Mol Interv, 2001 Dec. PMID 14993367
    5. Dopamine receptor-interacting protein 78 acts as a molecular chaperone for CCR5 chemokine receptor signaling complex organization. Kuang YQ, et al. PLoS One, 2012. PMID 22815758, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hsc70 and DNAJC14 are required for the unconventional trafficking of H723R-pendrin.
      Title: The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion.
    2. This suggests that DNAJC14's folding activity normally modulates yellow fever virus NS3/4A/2K cleavage events to liberate appropriate levels of NS3 and NS4A and promote replication complex formation.
      Title: Chaperone-Assisted Protein Folding Is Critical for Yellow Fever Virus NS3/4A Cleavage and Replication.
    3. a molecular chaperone, DRiP78, that interacts with both CXCR4 and CCR5, but not the heterodimer formed by these receptors
      Title: Dopamine receptor-interacting protein 78 acts as a molecular chaperone for CCR5 chemokine receptor signaling complex organization.
    4. These findings support a novel model of DNAJC14 action that includes specific membrane targeting of both DNAJC14 and yellow fever virus replication proteins.
      Title: Flavivirus replication complex assembly revealed by DNAJC14 functional mapping.
    5. DNAJC14 is required for yellow fever virus replication.
      Title: Identification and characterization of the host protein DNAJC14 as a broadly active flavivirus replication modulator.
    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

    Potential readthrough

    Included gene: SARNP

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dopamine receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    dnaJ homolog subfamily C member 14
    Names
    DnaJ (Hsp40) homolog, subfamily C, member 14
    LYST-interacting protein LIP6
    dnaJ protein homolog 3
    dopamine receptor interacting protein
    dopamine receptor-interacting protein of 78 kDa
    human DnaJ protein 3

    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_001394687.1 → NP_001381616.1  dnaJ homolog subfamily C member 14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC023055
      Consensus CDS
      CCDS8894.1
      UniProtKB/Swiss-Prot
      A5YM67, Q17RY2, Q66K17, Q6Y2X3, Q96N59, Q96T63
      UniProtKB/TrEMBL
      A8K5A7
      Related
      ENSP00000448876.2, ENST00000546957.2
      Conserved Domains (2) summary
      pfam00226
      Location:443 → 504
      DnaJ; DnaJ domain
      pfam14901
      Location:532 → 620
      Jiv90; Cleavage inducing molecular chaperone

    2. NM_001394688.1 → NP_001381617.1  dnaJ homolog subfamily C member 14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC023055
      Consensus CDS
      CCDS8894.1
      UniProtKB/Swiss-Prot
      A5YM67, Q17RY2, Q66K17, Q6Y2X3, Q96N59, Q96T63
      UniProtKB/TrEMBL
      A8K5A7
      Related
      ENSP00000317500.5, ENST00000317287.5
      Conserved Domains (2) summary
      pfam00226
      Location:443 → 504
      DnaJ; DnaJ domain
      pfam14901
      Location:532 → 620
      Jiv90; Cleavage inducing molecular chaperone

    3. NM_001394689.1 → NP_001381618.1  dnaJ homolog subfamily C member 14 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC023055
      Consensus CDS
      CCDS8894.1
      UniProtKB/Swiss-Prot
      A5YM67, Q17RY2, Q66K17, Q6Y2X3, Q96N59, Q96T63
      UniProtKB/TrEMBL
      A8K5A7
      Related
      ENSP00000450196.2, ENST00000547445.2
      Conserved Domains (2) summary
      pfam00226
      Location:443 → 504
      DnaJ; DnaJ domain
      pfam14901
      Location:532 → 620
      Jiv90; Cleavage inducing molecular chaperone

    4. NM_001394690.1 → NP_001381619.1  dnaJ homolog subfamily C member 14 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC023055
      UniProtKB/TrEMBL
      A8K5A7
      Conserved Domains (1) summary
      smart00271
      Location:443 → 499
      DnaJ; DnaJ molecular chaperone homology domain

    5. NM_032364.6 → NP_115740.5  dnaJ homolog subfamily C member 14 isoform 1

      See identical proteins and their annotated locations for NP_115740.5

      Status: VALIDATED

      Source sequence(s)
      AY188447, BC080655, DA127901
      Consensus CDS
      CCDS8894.1
      UniProtKB/Swiss-Prot
      A5YM67, Q17RY2, Q66K17, Q6Y2X3, Q96N59, Q96T63
      UniProtKB/TrEMBL
      A8K5A7
      Related
      ENSP00000504134.1, ENST00000678005.2
      Conserved Domains (2) summary
      pfam00226
      Location:443 → 504
      DnaJ; DnaJ domain
      pfam14901
      Location:532 → 620
      Jiv90; Cleavage inducing molecular chaperone

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      55820985..55830775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      55787629..55797421 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6Y2X3.2 GenPept UniProtKB/Swiss-Prot:Q6Y2X3

    Gene LinkOut

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

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