• Gene id: 79033

Gene Summary

• Gene Symbol: ERI3   Gene   UCSC   Ensembl
• Aliases: PINT1, PRNPIP
• Gene name: ERI1 exoribonuclease family member 3
• Alternate names: ERI1 exoribonuclease 3, enhanced RNAi three prime mRNA exonuclease homolog 3, prion interactor 1, prion protein-interacting protein,
• Gene location: 1p34.1 (44355297: 44221069)     Exons: 10     NC_000001.11
• OMIM: 609917

Protein Summary

• Protein general information: O43414  
  • Name: ERI1 exoribonuclease 3 (EC 3.1. . ) (Prion interactor 1) (Prion protein interacting protein)
  • Length: 337  
  • Mass: 37238
• Sequence:

  MATASPAADGGRGRPWEGGLVSWPPAPPLTLPWTWMGPSWGQHPGHWGFPALTEPSASPAAGLGIFEVRRVLDAS
  GCSMLAPLQTGAARFSSYLLSRARKVLGSHLFSPCGVPEFCSISTRKLAAHGFGASMAAMVSFPPQRYHYFLVLD
  FEATCDKPQIHPQEIIEFPILKLNGRTMEIESTFHMYVQPVVHPQLTPFCTELTGIIQAMVDGQPSLQQVLERVD
  EWMAKEGLLDPNVKSIFVTCGDWDLKVMLPGQCQYLGLPVADYFKQWINLKKAYSFAMGCWPKNGLLDMNKGLSL
  QHIGRPHSGIDDCKNIANIMKTLAYRGFIFKQTSKPF

• Structural information:
  • Protein Domains: (146..32-)
    (/note="Exonuclease"-)
  • Interpro: IPR013520  IPR012337  IPR036397  
  • PDB: 2XRI
  • PDBsum: 2XRI
  • STRING: ENSP00000361331
• Other Databases: GeneCards:  ERI3  Malacards:  ERI3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000738	DNA catabolic process, exonucleolytic	IBA	biological process
GO:0000467	exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0000175	3'-5'-exoribonuclease activity	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004527	exonuclease activity	IEA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray