• Gene id: 23071

Gene Summary

• Gene Symbol: ERP44   Gene   UCSC   Ensembl
• Aliases: PDIA10, TXNDC4
• Gene name: endoplasmic reticulum protein 44
• Alternate names: endoplasmic reticulum resident protein 44, ER protein 44, endoplasmic reticulum resident protein 44 kDa, epididymis secretory sperm binding protein, protein disulfide isomerase family A, member 10, thioredoxin domain containing 4 (endoplasmic reticulum), thiore,
• Gene location: 9q31.1 (100098999: 99979184)     Exons: 12     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-rete
• OMIM: 609170

Protein Summary

• Protein general information: Q9BS26  
  • Name: Endoplasmic reticulum resident protein 44 (ER protein 44) (ERp44) (Thioredoxin domain containing protein 4)
  • Length: 406  
  • Mass: 46971
• Sequence:

  MHPAVFLSLPDLRCSLLLLVTWVFTPVTTEITSLDTENIDEILNNADVALVNFYADWCRFSQMLHPIFEEASDVI
  KEEFPNENQVVFARVDCDQHSDIAQRYRISKYPTLKLFRNGMMMKREYRGQRSVKALADYIRQQKSDPIQEIRDL
  AEITTLDRSKRNIIGYFEQKDSDNYRVFERVANILHDDCAFLSAFGDVSKPERYSGDNIIYKPPGHSAPDMVYLG
  AMTNFDVTYNWIQDKCVPLVREITFENGEELTEEGLPFLILFHMKEDTESLEIFQNEVARQLISEKGTINFLHAD
  CDKFRHPLLHIQKTPADCPVIAIDSFRHMYVFGDFKDVLIPGKLKQFVFDLHSGKLHREFHHGPDPTDTAPGEQA
  QDVASSPPESSFQKLAPSEYRYTLLRDRDEL

• Structural information:
  • Protein Domains: (30..13-)
    (/note="Thioredoxin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691"-)
  • Interpro: IPR041862  IPR041870  IPR036249  IPR013766  
  • Prosite: PS00014 PS51352
  • CDD: cd03072 cd03070
  • PDB: 2R2J 5GU6 5GU7 5HQP 5XWM
  • PDBsum: 2R2J 5GU6 5GU7 5HQP 5XWM
  • STRING: ENSP00000262455
• Other Databases: GeneCards:  ERP44  Malacards:  ERP44

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0009986	cell surface	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0006986	response to unfolded protein	IDA	biological process
GO:0006457	protein folding	IDA	biological process
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0003756	protein disulfide isomerase activity	IDA	molecular function
GO:0009100	glycoprotein metabolic process	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0034976	response to endoplasmic reticulum stress	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045454	cell redox homeostasis	TAS	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R