DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJC3provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member C3provided by HGNC
Primary source: HGNC:HGNC:9439
See related: Ensembl:ENSG00000102580 MIM:601184; AllianceGenome:HGNC:9439
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: P58; HP58; ACPHD; ERdj6; PRKRI; P58IPK; p58(IPK)
Summary: 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]
Expression: Ubiquitous expression in thyroid (RPKM 25.8), prostate (RPKM 15.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q32.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (95677139..95794988)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (94881700..94999557)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (96329393..96447242)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Reduced DNAJC3 Expression Affects Protein Translocation across the ER Membrane and Attenuates the Down-Modulating Effect of the Translocation Inhibitor Cyclotriazadisulfonamide.
Title: Reduced DNAJC3 Expression Affects Protein Translocation across the ER Membrane and Attenuates the Down-Modulating Effect of the Translocation Inhibitor Cyclotriazadisulfonamide.
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.
Title: Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
Title: Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
DNAJC3 deficiency induces beta-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.
Title: DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.
DNAJC3-AS1 is up-regulated in osteosarcoma (OS) tissues and its high expression is associated with poor prognosis of OS patients.
Title: Long noncoding RNA DNAJC3-AS1 promotes osteosarcoma progression via its sense-cognate gene DNAJC3.
DNAJC3 p.H238N is likely to be a variant causing diabetes.
Title: DNAJC3 mutation in Thai familial type 2 diabetes mellitus.
p58IPK is a general inhibitor of the eIF2alpha kinases in that it also interacts with GCN2. Thus forced overexpression of cytoplasmic p58 delays eIF2alpha phosphorylation, suppresses GCN2 phosphorylation and prolongs protein synthesis
Title: p58IPK is an inhibitor of the eIF2α kinase GCN2 and its localization and expression underpin protein synthesis and ER processing capacity.
Loss-of-function DNAJC3 mutations lead to a monogenic, recessive form of diabetes mellitus in humans.
Title: Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.
p58(IPK) suppresses coxsackievirus B3-induced apoptosis through selective activation of PI3K/Akt pathway that requires activation of ATF6a and subsequently upregulates mitofusin 2.
Title: P58(IPK) inhibits coxsackievirus-induced apoptosis via the PI3K/Akt pathway requiring activation of ATF6a and subsequent upregulation of mitofusin 2.
interplay between p38 phosphorylation and p58(IPK) upregulation has key roles in modulating ERp29-induced cell-growth arrest and survival
Title: ERp29 induces breast cancer cell growth arrest and survival through modulation of activation of p38 and upregulation of ER stress protein p58IPK.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

Associated conditions

Description	Tests
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MedGen: C4015436 OMIM: 616192 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with DNAJC3; predicted interaction to be involved in antigenicity/immunity	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-2965 (e-PCR)
- UniSTS:13070

RH101951 (e-PCR)
- UniSTS:96286

WI-13942 (e-PCR)
- UniSTS:21028

D13S1038 (e-PCR)
- UniSTS:152370

A008Q12 (e-PCR)
- UniSTS:69951

D10S2448 (e-PCR)
- UniSTS:474444

csnpdnajc3-pcr13-1 (e-PCR)
- UniSTS:243032

csnpdnajc3-pcr3-1 (e-PCR)
- UniSTS:243033

csnpdnajc3-pcr4-1 (e-PCR)
- UniSTS:243034

csnpdnajc3-pcr6-1 (e-PCR)
- UniSTS:243035

csnpdnajc3-pcr8-1 (e-PCR)
- UniSTS:243036

WI-17122 (e-PCR)
- UniSTS:81541

RH45059 (e-PCR)
- UniSTS:21456

SHGC-58612 (e-PCR)
- UniSTS:94426

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables misfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein kinase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-folding chaperone binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular response to cold	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of translation initiation in response to endoplasmic reticulum stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein folding in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis involved in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in response to unfolded protein	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular vesicle	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in smooth endoplasmic reticulum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dnaJ homolog subfamily C member 3

Names: DnaJ (Hsp40) homolog, subfamily C, member 3; ER-resident protein ERdj6; endoplasmic reticulum DNA J domain-containing protein 6; interferon-induced, double-stranded RNA-activated protein kinase inhibitor; protein kinase inhibitor of 58 kDa; protein kinase inhibitor p58; protein-kinase, interferon-inducible double stranded RNA dependent inhibitor

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

NG_041830.1 RefSeqGene

Range

5001..122850

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006260.5 → NP_006251.1 dnaJ homolog subfamily C member 3 precursor

See identical proteins and their annotated locations for NP_006251.1

Status: REVIEWED

Source sequence(s)

AA430108, AK292947, AL136104, AL138955, BC047936

Consensus CDS

CCDS9479.1

UniProtKB/Swiss-Prot

Q13217, Q86WT9, Q8N4N2

UniProtKB/TrEMBL

A8KA82, X6R9L0

Related

ENSP00000473631.1, ENST00000602402.6

Conserved Domains (3) summary

COG0484
Location:392 → 498

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

sd00006
Location:37 → 65

TPR; TPR repeat [structural motif]

cl26002
Location:31 → 394

TPR_11; TPR repeat

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

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

95677139..95794988

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011521104.3 → XP_011519406.1 dnaJ homolog subfamily C member 3 isoform X1

UniProtKB/TrEMBL

X6R9L0

Conserved Domains (6) summary

COG0484
Location:421 → 527

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

sd00006
Location:37 → 65

TPR; TPR repeat [structural motif]

pfam00226
Location:423 → 488

DnaJ; DnaJ domain

pfam00515
Location:369 → 402

TPR_1; Tetratricopeptide repeat

pfam13414
Location:36 → 100

TPR_11; TPR repeat

pfam14559
Location:347 → 411

TPR_19; Tetratricopeptide repeat