• Gene id: 64222

Gene Summary

• Gene Symbol: TOR3A   Gene   UCSC   Ensembl
• Aliases: ADIR, ADIR2
• Gene name: torsin family 3 member A
• Alternate names: torsin-3A, ATP-dependant interferon response protein 1, ATP-dependant interferon responsive, ATP-dependent interferon-responsive protein, epididymis secretory sperm binding protein,
• Gene location: 1q25.2 (179082069: 179095995)     Exons: 6     NC_000001.11
• OMIM: 605640

Protein Summary

• Protein general information: Q9H497  
  • Name: Torsin 3A (ATP dependent interferon responsive protein) (Torsin family 3 member A)
  • Length: 397  
  • Mass: 46199
  • Tissue specificity: Ubiquitously expressed. Highest expression in stomach, salivary glands and lymph nodes. Isoform 2 is expressed in placenta. {ECO
• Sequence:

  MLRGPWRQLWLFFLLLLPGAPEPRGASRPWEGTDEPGSAWAWPGFQRLQEQLRAAGALSKRYWTLFSCQVWPDDC
  DEDEEAATGPLGWRLPLLGQRYLDLLTTWYCSFKDCCPRGDCRISNNFTGLEWDLNVRLHGQHLVQQLVLRTVRG
  YLETPQPEKALALSFHGWSGTGKNFVARMLVENLYRDGLMSDCVRMFIATFHFPHPKYVDLYKEQLMSQIRETQQ
  LCHQTLFIFDEAEKLHPGLLEVLGPHLERRAPEGHRAESPWTIFLFLSNLRGDIINEVVLKLLKAGWSREEITME
  HLEPHLQAEIVETIDNGFGHSRLVKENLIDYFIPFLPLEYRHVRLCARDAFLSQELLYKEETLDEIAQMMVYVPK
  EEQLFSSQGCKSISQRINYFLS

• Structural information:
  • Interpro: IPR027417  IPR010448  IPR030552  
  • DIP: 59333
  • STRING: ENSP00000356599
• Other Databases: GeneCards:  TOR3A  Malacards:  TOR3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016887	ATPase activity	IBA	molecular function
GO:0005635	nuclear envelope	IBA	cellular component
GO:0005788	endoplasmic reticulum lumen	IBA	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq