• Gene id: 5611

Gene Summary

• Gene Symbol: DNAJC3   Gene   UCSC   Ensembl
• Aliases: ACPHD, ERdj6, HP58, P58, P58IPK, PRKRI, p58(IPK)
• Gene name: DnaJ heat shock protein family (Hsp40) member C3
• Alternate names: dnaJ homolog subfamily C member 3, 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 inhib,
• Gene location: 13q32.1 (95677138: 95794987)     Exons: 16     NC_000013.11
• Gene summary(Entrez): 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
• OMIM: 601184

Protein Summary

• Protein general information: Q13217  
  • Name: DnaJ homolog subfamily C member 3 (Endoplasmic reticulum DNA J domain containing protein 6) (ER resident protein ERdj6) (ERdj6) (Interferon induced, double stranded RNA activated protein kinase inhibitor) (Protein kinase inhibitor of 58 kDa) (Protein kina
  • Length: 504  
  • Mass: 57580
  • Tissue specificity: Widely expressed with high level in the pancreas and testis. Also expressed in cell lines with different levels. {ECO
• Sequence:

  MVAPGSVTSRLGSVFPFLLVLVDLQYEGAECGVNADVEKHLELGKKLLAAGQLADALSQFHAAVDGDPDNYIAYY
  RRATVFLAMGKSKAALPDLTKVIQLKMDFTAARLQRGHLLLKQGKLDEAEDDFKKVLKSNPSENEEKEAQSQLIK
  SDEMQRLRSQALNAFGSGDYTAAIAFLDKILEVCVWDAELRELRAECFIKEGEPRKAISDLKAASKLKNDNTEAF
  YKISTLYYQLGDHELSLSEVRECLKLDQDHKRCFAHYKQVKKLNKLIESAEELIRDGRYTDATSKYESVMKTEPS
  IAEYTVRSKERICHCFSKDEKPVEAIRVCSEVLQMEPDNVNALKDRAEAYLIEEMYDEAIQDYETAQEHNENDQQ
  IREGLEKAQRLLKQSQKRDYYKILGVKRNAKKQEIIKAYRKLALQWHPDNFQNEEEKKKAEKKFIDIAAAKEVLS
  DPEMRKKFDDGEDPLDAESQQGGGGNPFHRSWNSWQGFNPFSSGGPFRFKFHFN

• Structural information:
  • Protein Domains: (394..46-)
    (/note="J-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00286"-)
  • Interpro: IPR001623  IPR036869  IPR013026  IPR011990  IPR018704   IPR019734  
  • Prosite: PS50076 PS50005 PS50293
  • CDD: cd06257
  • PDB: 2Y4T 2Y4U
  • PDBsum: 2Y4T 2Y4U
  • STRING: ENSP00000473631
• Other Databases: GeneCards:  DNAJC3  Malacards:  DNAJC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:1903912	negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation	IMP	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0051787	misfolded protein binding	IBA	molecular function
GO:0034975	protein folding in endoplasmic reticulum	IBA	biological process
GO:0051087	chaperone binding	IBA	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:1903912	negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation	ISS	biological process
GO:0019901	protein kinase binding	ISS	molecular function
GO:0004860	protein kinase inhibitor activity	ISS	molecular function
GO:0070417	cellular response to cold	ISS	biological process
GO:0036494	positive regulation of translation initiation in response to endoplasmic reticulum stress	ISS	biological process
GO:0006986	response to unfolded protein	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0004860	protein kinase inhibitor activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005790	smooth endoplasmic reticulum	IEA	cellular component
GO:1903912	negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation	IEA	biological process
GO:0051787	misfolded protein binding	IEA	molecular function
GO:0051603	proteolysis involved in cellular protein catabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0070417	cellular response to cold	IEA	biological process
GO:0051087	chaperone binding	IEA	molecular function
GO:0036494	positive regulation of translation initiation in response to endoplasmic reticulum stress	IEA	biological process
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004860	protein kinase inhibitor activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum
hsa05164	Influenza A

Diseases

Associated diseases	References
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	KEGG:H02430
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	KEGG:H02430
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq