• Gene id: 10954

Gene Summary

• Gene Symbol: PDIA5   Gene   UCSC   Ensembl
• Aliases: PDIR
• Gene name: protein disulfide isomerase family A member 5
• Alternate names: protein disulfide-isomerase A5, protein disulfide isomerase-associated 5, protein disulfide isomerase-related protein,
• Gene location: 3q21.1 (123067024: 123162103)     Exons: 17     NC_000003.12
• 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, three catalyticall
• OMIM: 607491

Protein Summary

• Protein general information: Q14554  
  • Name: Protein disulfide isomerase A5 (EC 5.3.4.1) (Protein disulfide isomerase related protein)
  • Length: 519  
  • Mass: 59594
• Sequence:

  MARAGPAWLLLAIWVVLPSWLSSAKVSSLIERISDPKDLKKLLRTRNNVLVLYSKSEVAAENHLRLLSTVAQAVK
  GQGTICWVDCGDAESRKLCKKMKVDLSPKDKKVELFHYQDGAFHTEYNRAVTFKSIVAFLKDPKGPPLWEEDPGA
  KDVVHLDSEKDFRRLLKKEEKPLLIMFYAPWCSMCKRMMPHFQKAATQLRGHAVLAGMNVYSSEFENIKEEYSVR
  GFPTICYFEKGRFLFQYDNYGSTAEDIVEWLKNPQPPQPQVPETPWADEGGSVYHLTDEDFDQFVKEHSSVLVMF
  HAPWCGHCKKMKPEFEKAAEALHGEADSSGVLAAVDATVNKALAERFHISEFPTLKYFKNGEKYAVPVLRTKKKF
  LEWMQNPEAPPPPEPTWEEQQTSVLHLVGDNFRETLKKKKHTLVMFYAPWCPHCKKVIPHFTATADAFKDDRKIA
  CAAVDCVKDKNQDLCQQEAVKGYPTFHYYHYGKFAEKYDSDRTELGFTNYIRALREGDHERLGKKKEEL

• Structural information:
  • Protein Domains: (134..26-)
    (/note="Thioredoxin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691-)
    (270..38-)
    (/note="Thioredoxin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691-)
    (378..50-)
    (/note="Thioredoxin-3)
    (/evidence="ECO:0000255|PROSIT-)
  • Interpro: IPR041865  IPR036249  IPR017937  IPR013766  
  • Prosite: PS00014 PS00194 PS51352
  • CDD: cd03067
  • PDB: 4I6X
  • PDBsum: 4I6X
  • STRING: ENSP00000323313
• Other Databases: GeneCards:  PDIA5  Malacards:  PDIA5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045454	cell redox homeostasis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0015037	peptide disulfide oxidoreductase activity	IDA	molecular function
GO:0006457	protein folding	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0016491	oxidoreductase activity	TAS	molecular function
GO:0003756	protein disulfide isomerase activity	TAS	molecular function
GO:0055114	oxidation-reduction process	TAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray