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Aliases for DNAJC3 Gene

Aliases for DNAJC3 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C3 2 3 5
  • Endoplasmic Reticulum DNA J Domain-Containing Protein 6 2 3 4
  • Protein Kinase Inhibitor Of 58 KDa 2 3 4
  • Interferon-Induced, Double-Stranded RNA-Activated Protein Kinase Inhibitor 3 4
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 3 2 3
  • Protein Kinase Inhibitor P58 3 4
  • ER-Resident Protein ERdj6 3 4
  • P58IPK 3 4
  • PRKRI 3 4
  • ERdj6 3 4
  • Protein-Kinase, Interferon-Inducible Double Stranded RNA Dependent Inhibitor 3
  • Double-Stranded RNA-Activated Protein Kinase Inhibitor 2
  • Interferon-Induced 2
  • ACPHD 3
  • HP58 3
  • P58 3

External Ids for DNAJC3 Gene

Previous HGNC Symbols for DNAJC3 Gene

  • PRKRI

Previous GeneCards Identifiers for DNAJC3 Gene

  • GC13P094689
  • GC13P090716
  • GC13P095166
  • GC13P094027
  • GC13P095127
  • GC13P096329
  • GC13P076927

Summaries for DNAJC3 Gene

Entrez Gene Summary for DNAJC3 Gene

  • This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010]

GeneCards Summary for DNAJC3 Gene

DNAJC3 (DnaJ Heat Shock Protein Family (Hsp40) Member C3) is a Protein Coding gene. Diseases associated with DNAJC3 include ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Infectious disease. GO annotations related to this gene include chaperone binding and misfolded protein binding. An important paralog of this gene is DNAJC7.

UniProtKB/Swiss-Prot for DNAJC3 Gene

  • Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Acts as a negative regulator of the EIF2AK4/GCN2 kinase activity by preventing the phosphorylation of eIF-2-alpha at Ser-52 and hence attenuating general protein synthesis under ER stress, hypothermic and amino acid starving stress conditions (By similarity). Co-chaperone of HSPA8/HSC70, it stimulates its ATPase activity. May inhibit both the autophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 to catalyze phosphorylation of the EIF2A. May inhibit EIF2AK3/PERK activity.

Gene Wiki entry for DNAJC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJC3 Gene

Genomics for DNAJC3 Gene

Regulatory Elements for DNAJC3 Gene

Promoters for DNAJC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNAJC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAJC3 Gene

Chromosome:
13
Start:
95,677,139 bp from pter
End:
95,794,989 bp from pter
Size:
117,851 bases
Orientation:
Plus strand

Genomic View for DNAJC3 Gene

Genes around DNAJC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC3 Gene

Proteins for DNAJC3 Gene

  • Protein details for DNAJC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13217-DNJC3_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 3
    Protein Accession:
    Q13217
    Secondary Accessions:
    • Q86WT9
    • Q8N4N2

    Protein attributes for DNAJC3 Gene

    Size:
    504 amino acids
    Molecular mass:
    57580 Da
    Quaternary structure:
    • Interacts with EIF2AK4/GCN2; this interaction occurs under endoplasmic reticulum (ER) stress, hypothermic and amino acid starving stress conditions and inhibits EIF2AK4/GCN2 kinase activity. Interacts with EIF2AK3 (By similarity). Interacts with EIF2AK2 (PubMed:8576172). Forms a trimeric complex with DNAJB1 and HSPA8 (PubMed:9920933). Interacts with PRKRIR/P52RIPK (PubMed:9447982).

    Three dimensional structures from OCA and Proteopedia for DNAJC3 Gene

neXtProt entry for DNAJC3 Gene

Proteomics data for DNAJC3 Gene at MOPED

Post-translational modifications for DNAJC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAJC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DNAJC3 (DNAJC3)

No data available for DME Specific Peptides for DNAJC3 Gene

Domains & Families for DNAJC3 Gene

Protein Domains for DNAJC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q13217

UniProtKB/Swiss-Prot:

DNJC3_HUMAN :
  • The J domain mediates interaction with HSPA8.
  • Contains 9 TPR repeats.
Domain:
  • The J domain mediates interaction with HSPA8.
  • Binding to misfolded proteins is mediated by a hydrophobic patch forming a large groove within the first two TPR repeats.
  • Contains 1 J domain.
Similarity:
  • Contains 9 TPR repeats.
genes like me logo Genes that share domains with DNAJC3: view

Function for DNAJC3 Gene

Molecular function for DNAJC3 Gene

UniProtKB/Swiss-Prot Function:
Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Acts as a negative regulator of the EIF2AK4/GCN2 kinase activity by preventing the phosphorylation of eIF-2-alpha at Ser-52 and hence attenuating general protein synthesis under ER stress, hypothermic and amino acid starving stress conditions (By similarity). Co-chaperone of HSPA8/HSC70, it stimulates its ATPase activity. May inhibit both the autophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 to catalyze phosphorylation of the EIF2A. May inhibit EIF2AK3/PERK activity.
UniProtKB/Swiss-Prot Induction:
Up-regulated during an endoplasmic reticulum stress via ATF6. Activated in response to infection by influenza virus through the dissociation of DNAJB1. Down-regulated by DNAJB1 and PRKRIR/P52RIPK.

Gene Ontology (GO) - Molecular Function for DNAJC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051787 misfolded protein binding IEA --
genes like me logo Genes that share ontologies with DNAJC3: view
genes like me logo Genes that share phenotypes with DNAJC3: view

Human Phenotype Ontology for DNAJC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAJC3 Gene

MGI Knock Outs for DNAJC3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DNAJC3 Gene

Localization for DNAJC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJC3 Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAJC3 Gene COMPARTMENTS Subcellular localization image for DNAJC3 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
cytosol 4
golgi apparatus 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DNAJC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen IEA,TAS --
GO:0005829 cytosol IEA,ISS --
GO:1903561 extracellular vesicle IDA 24769233
genes like me logo Genes that share ontologies with DNAJC3: view

Pathways & Interactions for DNAJC3 Gene

genes like me logo Genes that share pathways with DNAJC3: view

Gene Ontology (GO) - Biological Process for DNAJC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030968 endoplasmic reticulum unfolded protein response TAS --
GO:0036494 positive regulation of translation initiation in response to endoplasmic reticulum stress IEA,ISS --
GO:0036498 IRE1-mediated unfolded protein response TAS --
GO:1904030 negative regulation of cyclin-dependent protein kinase activity IEA --
genes like me logo Genes that share ontologies with DNAJC3: view

No data available for SIGNOR curated interactions for DNAJC3 Gene

Drugs & Compounds for DNAJC3 Gene

No Compound Related Data Available

Transcripts for DNAJC3 Gene

mRNA/cDNA for DNAJC3 Gene

Unigene Clusters for DNAJC3 Gene

DnaJ (Hsp40) homolog, subfamily C, member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC3 Gene

No ASD Table

Relevant External Links for DNAJC3 Gene

GeneLoc Exon Structure for
DNAJC3
ECgene alternative splicing isoforms for
DNAJC3

Expression for DNAJC3 Gene

mRNA expression in normal human tissues for DNAJC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNAJC3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.0) and Serum (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DNAJC3 Gene



SOURCE GeneReport for Unigene cluster for DNAJC3 Gene Hs.59214

mRNA Expression by UniProt/SwissProt for DNAJC3 Gene

Q13217-DNJC3_HUMAN
Tissue specificity: Widely expressed with high level in the pancreas and testis. Also expressed in cell lines with different levels.
genes like me logo Genes that share expression patterns with DNAJC3: view

Protein tissue co-expression partners for DNAJC3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for DNAJC3 Gene

Orthologs for DNAJC3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAJC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJC3 36
  • 100 (a)
OneToOne
DNAJC3 35
  • 99.67 (n)
  • 99.8 (a)
cow
(Bos Taurus)
Mammalia DNAJC3 36
  • 96 (a)
OneToOne
DNAJC3 35
  • 92.46 (n)
  • 96.23 (a)
dog
(Canis familiaris)
Mammalia DNAJC3 35
  • 94.27 (n)
  • 97.48 (a)
DNAJC3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnajc3 16
Dnajc3 36
  • 97 (a)
OneToOne
Dnajc3 35
  • 87.5 (n)
  • 96.83 (a)
oppossum
(Monodelphis domestica)
Mammalia DNAJC3 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dnajc3 35
  • 86.84 (n)
  • 94.05 (a)
chicken
(Gallus gallus)
Aves DNAJC3 35
  • 77.16 (n)
  • 80.48 (a)
DNAJC3 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAJC3 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cg8286-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc3 35
  • 71.3 (n)
  • 72.2 (a)
Str.4731 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1207 35
zebrafish
(Danio rerio)
Actinopterygii dnajc3a 35
  • 67.79 (n)
  • 71.77 (a)
wufb64f06 35
dnajc3 36
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002752 35
  • 51.46 (n)
  • 47.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8286 37
  • 44 (a)
P58IPK 36
  • 42 (a)
OneToOne
P58IPK 35
  • 51.05 (n)
  • 45.8 (a)
worm
(Caenorhabditis elegans)
Secernentea dnj-28 36
  • 41 (a)
OneToMany
dnj-7 36
  • 45 (a)
OneToMany
dnj-7 35
  • 53.16 (n)
  • 47.12 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02424 35
  • 43.36 (n)
  • 35.18 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9325 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8738 36
  • 44 (a)
OneToOne
Species with no ortholog for DNAJC3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNAJC3 Gene

ENSEMBL:
Gene Tree for DNAJC3 (if available)
TreeFam:
Gene Tree for DNAJC3 (if available)

Paralogs for DNAJC3 Gene

Paralogs for DNAJC3 Gene

genes like me logo Genes that share paralogs with DNAJC3: view

Variants for DNAJC3 Gene

Sequence variations from dbSNP and Humsavar for DNAJC3 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs8195 -- 95,794,800(-) AGCAA(A/G)AGTAA utr-variant-3-prime
rs1151362 -- 95,715,968(+) cctgg(A/C)caaca intron-variant
rs1044259 -- 95,763,919(-) GCCTC(A/T)GCTCG reference, synonymous-codon
rs2289812 -- 95,787,834(-) CCAGG(C/G)CATAT intron-variant
rs2289813 -- 95,787,278(-) GACCT(C/T)TGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNAJC3 Gene

Variant ID Type Subtype PubMed ID
nsv7246 OTHER Inversion 18451855
nsv832690 CNV Gain+Loss 17160897
esv272164 CNV Insertion 20981092
esv272032 CNV Insertion 20981092
esv2747849 CNV Deletion 23290073
nsv507726 CNV Insertion 20534489
dgv375e199 CNV Deletion 23128226

Variation tolerance for DNAJC3 Gene

Residual Variation Intolerance Score: 31.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAJC3 Gene

HapMap Linkage Disequilibrium report
DNAJC3
Human Gene Mutation Database (HGMD)
DNAJC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC3 Gene

Disorders for DNAJC3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DNAJC3 Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
  • acphd
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
  • combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome
influenza
  • flu
prostate cancer
  • prostate cancer, hereditary, 5
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DNJC3_HUMAN
  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) [MIM:616192]: A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy. {ECO:0000269 PubMed:25466870}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAJC3

Genetic Association Database (GAD)
DNAJC3
Human Genome Epidemiology (HuGE) Navigator
DNAJC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAJC3
genes like me logo Genes that share disorders with DNAJC3: view

No data available for Genatlas for DNAJC3 Gene

Publications for DNAJC3 Gene

  1. The cellular inhibitor of the PKR protein kinase, P58(IPK), is an influenza virus-activated co-chaperone that modulates heat shock protein 70 activity. (PMID: 9920933) Melville M.W. … Katze M.G. (J. Biol. Chem. 1999) 3 4 23 67
  2. The 58,000-dalton cellular inhibitor of the interferon-induced double-stranded RNA-activated protein kinase (PKR) is a member of the tetratricopeptide repeat family of proteins. (PMID: 7511204) Lee T.G. … Katze M.G. (Mol. Cell. Biol. 1994) 2 3 23
  3. P58IPK, a novel endoplasmic reticulum stress-inducible protein and potential negative regulator of eIF2alpha signaling. (PMID: 12601012) van Huizen R. … Holbrook N.J. (J. Biol. Chem. 2003) 3 23
  4. Control of PERK eIF2alpha kinase activity by the endoplasmic reticulum stress-induced molecular chaperone P58IPK. (PMID: 12446838) Yan W. … Katze M.G. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 23
  5. Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q. (PMID: 8824806) Scherer S.W. … Tsui L.C. (Genomics 1996) 2 3

Products for DNAJC3 Gene

Sources for DNAJC3 Gene

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