• Gene id: 54863

Gene Summary

• Gene Symbol: TOR4A   Gene   UCSC   Ensembl
• Aliases: C9orf167
• Gene name: torsin family 4 member A
• Alternate names: torsin-4A, torsin family protein C9orf167,
• Gene location: 9q34.3 (137277725: 137282640)     Exons: 2     NC_000009.12
• OMIM: 607527

Protein Summary

• Protein general information: Q9NXH8  
  • Name: Torsin 4A (Torsin family 4 member A)
  • Length: 423  
  • Mass: 46914
• Sequence:

  MDRGQPSLEPAAAAPRASGRCVIAPVRAVLRLRRRVCVLRKRRLLQPGGGPDVGTGAPRPGCSPRAPRADLDQPK
  FFTFDSPAELPSRTPRKKRRRSRLVLYPETSRKYRPRVEHRSRAQRCLLLLVAIVGFQVLNAIENLDDNAQRYDL
  DGLEKALQRAVFGQPAAVSRIVALMRDYLATHVHSRPLLLALHGPSGVGKSHVGRLLARHFRSVLEDSALVLQYH
  ARHHCPEARAAQDCREELARRVADVVARAEAEEKTPLLVLDDVELMPRPLLDELHGFLQPQRSHHFHNAIYVLLS
  GAGGAEVTRFVLQNASRALPLRPDGFRSAEAAAAQAEEDLRASLLAVLSREHPLWQAAAIVPFLLLDKRDVVSCF
  RDEMAGEGFFPDQARAENLAAQLSFYRVAGREFAVTGCKQVVATVNLL

• Structural information:
  • Interpro: IPR003593  IPR027417  IPR010448  IPR030551  
  • STRING: ENSP00000350102
• Other Databases: GeneCards:  TOR4A  Malacards:  TOR4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005788	endoplasmic reticulum lumen	IBA	cellular component
GO:0005635	nuclear envelope	IBA	cellular component
GO:0016887	ATPase activity	IBA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0016020	membrane	IEA	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