• Gene id: 10130

Gene Summary

• Gene Symbol: PDIA6   Gene   UCSC   Ensembl
• Aliases: ERP5, P5, TXNDC7
• Gene name: protein disulfide isomerase family A member 6
• Alternate names: protein disulfide-isomerase A6, ER protein 5, endoplasmic reticulum protein 5, epididymis secretory sperm binding protein, protein disulfide isomerase P5, protein disulfide isomerase-associated 6, protein disulfide isomerase-related protein, thioredoxin domain c,
• Gene location: 2p25.1 (132219479: 132203023)     Exons: 8     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically
• OMIM: 611099

Protein Summary

• Protein general information: Q15084  
  • Name: Protein disulfide isomerase A6 (EC 5.3.4.1) (Endoplasmic reticulum protein 5) (ER protein 5) (ERp5) (Protein disulfide isomerase P5) (Thioredoxin domain containing protein 7)
  • Length: 440  
  • Mass: 48121
  • Tissue specificity: Expressed in platelets (at protein level). {ECO
• Sequence:

  MALLVLGLVSCTFFLAVNGLYSSSDDVIELTPSNFNREVIQSDSLWLVEFYAPWCGHCQRLTPEWKKAATALKDV
  VKVGAVDADKHHSLGGQYGVQGFPTIKIFGSNKNRPEDYQGGRTGEAIVDAALSALRQLVKDRLGGRSGGYSSGK
  QGRSDSSSKKDVIELTDDSFDKNVLDSEDVWMVEFYAPWCGHCKNLEPEWAAAASEVKEQTKGKVKLAAVDATVN
  QVLASRYGIRGFPTIKIFQKGESPVDYDGGRTRSDIVSRALDLFSDNAPPPELLEIINEDIAKRTCEEHQLCVVA
  VLPHILDTGAAGRNSYLEVLLKLADKYKKKMWGWLWTEAGAQSELETALGIGGFGYPAMAAINARKMKFALLKGS
  FSEQGINEFLRELSFGRGSTAPVGGGAFPTIVEREPWDGRDGELPVEDDIDLSDVELDDLGKDEL

• Structural information:
  • Protein Domains: (20..13-)
    (/note="Thioredoxin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691-)
    (154..28-)
    (/note="Thioredoxin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691"-)
  • Interpro: IPR005788  IPR036249  IPR017937  IPR013766  
  • Prosite: PS00014 PS00194 PS51352
  • PDB: 1X5D 3VWW 3W8J 4EF0 4GWR
  • PDBsum: 1X5D 3VWW 3W8J 4EF0 4GWR
  • STRING: ENSP00000385385
• Other Databases: GeneCards:  PDIA6  Malacards:  PDIA6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034663	endoplasmic reticulum chaperone complex	ISS	cellular component
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0045454	cell redox homeostasis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0003756	protein disulfide isomerase activity	TAS	molecular function
GO:0006457	protein folding	TAS	biological process
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0015037	peptide disulfide oxidoreductase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881