• Gene id: 27348

Gene Summary

• Gene Symbol: TOR1B   Gene   UCSC   Ensembl
• Aliases: DQ1
• Gene name: torsin family 1 member B
• Alternate names: torsin-1B, torsin ATPase-1B, torsin B,
• Gene location: 9q34.11 (129803142: 129811423)     Exons: 5     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Fina
• OMIM: 125671

Protein Summary

• Protein general information: O14657  
  • Name: Torsin 1B (Torsin ATPase 1B) (EC 3.6.4. ) (Torsin family 1 member B)
  • Length: 336  
  • Mass: 37979
  • Tissue specificity: Widely expressed with low levels in brain. {ECO
• Sequence:

  MLRAGWLRGAAALALLLAARVVAAFEPITVGLAIGAASAITGYLSYNDIYCRFAECCREERPLNASALKLDLEEK
  LFGQHLATEVIFKALTGFRNNKNPKKPLTLSLHGWAGTGKNFVSQIVAENLHPKGLKSNFVHLFVSTLHFPHEQK
  IKLYQDQLQKWIRGNVSACANSVFIFDEMDKLHPGIIDAIKPFLDYYEQVDGVSYRKAIFIFLSNAGGDLITKTA
  LDFWRAGRKREDIQLKDLEPVLSVGVFNNKHSGLWHSGLIDKNLIDYFIPFLPLEYRHVKMCVRAEMRARGSAID
  EDIVTRVAEEMTFFPRDEKIYSDKGCKTVQSRLDFH

• Structural information:
  • Interpro: IPR027417  IPR010448  IPR030550  IPR017378  
  • DIP: 56930
  • STRING: ENSP00000259339
• Other Databases: GeneCards:  TOR1B  Malacards:  TOR1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034504	protein localization to nucleus	IBA	biological process
GO:0005788	endoplasmic reticulum lumen	IBA	cellular component
GO:0071763	nuclear membrane organization	IBA	biological process
GO:0019894	kinesin binding	IBA	molecular function
GO:0016887	ATPase activity	IBA	molecular function
GO:0005635	nuclear envelope	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0016887	ATPase activity	IDA	molecular function
GO:0007029	endoplasmic reticulum organization	IDA	biological process
GO:0005635	nuclear envelope	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0051085	chaperone cofactor-dependent protein refolding	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0007029	endoplasmic reticulum organization	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006986	response to unfolded protein	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0071763	nuclear membrane organization	IEA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881