• Gene id: 121506

Gene Summary

• Gene Symbol: ERP27   Gene   UCSC   Ensembl
• Aliases: C12orf46, PDIA8
• Gene name: endoplasmic reticulum protein 27
• Alternate names: endoplasmic reticulum resident protein 27, ER protein 27, endoplasmic reticulum protein 27 kDa, inactive protein disulfide-isomerase 27, protein disulfide isomerase family A, member 8,
• Gene location: 12p12.3 (14938536: 14914026)     Exons: 8     NC_000012.12
• Gene summary(Entrez): This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention seque
• OMIM: 610642

Protein Summary

• Protein general information: Q96DN0  
  • Name: Endoplasmic reticulum resident protein 27 (ER protein 27) (ERp27) (Inactive protein disulfide isomerase 27)
  • Length: 273  
  • Mass: 30480
• Sequence:

  MEAAPSRFMFLLFLLTCELAAEVAAEVEKSSDGPGAAQEPTWLTDVPAAMEFIAATEVAVIGFFQDLEIPAVPIL
  HSMVQKFPGVSFGISTDSEVLTHYNITGNTICLFRLVDNEQLNLEDEDIESIDATKLSRFIEINSLHMVTEYNPV
  TVIGLFNSVIQIHLLLIMNKASPEYEENMHRYQKAAKLFQGKILFILVDSGMKENGKVISFFKLKESQLPALAIY
  QTLDDEWDTLPTAEVSVEHVQNFCDGFLSGKLLKENRESEGKTPKVEL

• Structural information:
  • Protein Domains: (39..15-)
    (/note="Thioredoxin-)
    (/evidence="ECO:0000305"-)
  • Interpro: IPR036249  
  • PDB: 2L4C 4F9Z
  • PDBsum: 2L4C 4F9Z
  • STRING: ENSP00000266397
• Other Databases: GeneCards:  ERP27  Malacards:  ERP27

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003756	protein disulfide isomerase activity	IBA	NOT|molecular function
GO:0009986	cell surface	IBA	cellular component
GO:0034976	response to endoplasmic reticulum stress	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006457	protein folding	IBA	biological process
GO:0006986	response to unfolded protein	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
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: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: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

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