• Gene id: 9601

Gene Summary

• Gene Symbol: PDIA4   Gene   UCSC   Ensembl
• Aliases: ERP70, ERP72, ERp-72
• Gene name: protein disulfide isomerase family A member 4
• Alternate names: protein disulfide-isomerase A4, ER protein 70, ER protein 72, endoplasmic reticulum resident protein 70, endoplasmic reticulum resident protein 72, protein disulfide isomerase related protein (calcium-binding protein, intestinal-related), protein disulfide isom,
• Gene location: 7q36.1 (130716360: 130396132)     Exons: 27     NC_000012.12
• 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

Protein Summary

• Protein general information: P13667  
  • Name: Protein disulfide isomerase A4 (EC 5.3.4.1) (Endoplasmic reticulum resident protein 70) (ER protein 70) (ERp70) (Endoplasmic reticulum resident protein 72) (ER protein 72) (ERp 72) (ERp72)
  • Length: 645  
  • Mass: 72932
• Sequence:

  MRPRKAFLLLLLLGLVQLLAVAGAEGPDEDSSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNF
  VADKDTVLLEFYAPWCGHCKQFAPEYEKIANILKDKDPPIPVAKIDATSASVLASRFDVSGYPTIKILKKGQAVD
  YEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKENFDEVVNDADIILVEFYAPWCGHCKKLAPEYEKAAKELSK
  RSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFL
  KDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSKYEPRSHMMD
  VQGSTQDSAIKDFVLKYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTF
  AIADEEDYAGEVKDLGLSESGEDVNAAILDESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKG
  PVKVVVGKTFDSIVMDPKKDVLIEFYAPWCGHCKQLEPVYNSLAKKYKGQKGLVIAKMDATANDVPSDRYKVEGF
  PTIYFAPSGDKKNPVKFEGGDRDLEHLSKFIEEHATKLSRTKEEL

• Structural information:
  • Protein Domains: (21..16-)
    (/note="Thioredoxin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691-)
    (158..30-)
    (/note="Thioredoxin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691-)
    (505..63-)
    (/note="Thioredoxin-3)
    (/evidence="ECO:0000255|PROSITE-)
  • Interpro: IPR005788  IPR041866  IPR005792  IPR017068  IPR036249   IPR017937  IPR013766  
  • Prosite: PS00014 PS00194 PS51352
  • CDD: cd03068
  • PDB: 3IDV
  • PDBsum: 3IDV
  • STRING: ENSP00000286091
• Other Databases: GeneCards:  PDIA4  Malacards:  PDIA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006457	protein folding	IBA	biological process
GO:0003756	protein disulfide isomerase activity	IBA	molecular function
GO:0009986	cell surface	IBA	cellular component
GO:0034976	response to endoplasmic reticulum stress	IBA	biological process
GO:0005788	endoplasmic reticulum lumen	IEA	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:0009306	protein secretion	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0009986	cell surface	IDA	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:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0015037	peptide disulfide oxidoreductase activity	IDA	molecular function
GO:0061077	chaperone-mediated protein folding	ISS	biological process
GO:0003756	protein disulfide isomerase activity	ISS	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum
hsa04918	Thyroid hormone synthesis
hsa05110	Vibrio cholerae infection

Diseases

Associated diseases	References
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq