• Gene id: 84896

Gene Summary

• Gene Symbol: ATAD1   Gene   UCSC   Ensembl
• Aliases: AFDC1, FNP001, HKPX4, Msp1, THORASE
• Gene name: ATPase family AAA domain containing 1
• Alternate names: ATPase family AAA domain-containing protein 1,
• Gene location: 10q23.31 (87841358: 87751511)     Exons: 18     NC_000010.11
• OMIM: 605017

Protein Summary

• Protein general information: Q8NBU5  
  • Name: ATPase family AAA domain containing protein 1 (EC 3.6.1.3) (Thorase)
  • Length: 361  
  • Mass: 40744
• Sequence:

  MVHAEAFSRPLSRNEVVGLIFRLTIFGAVTYFTIKWMVDAIDPTRKQKVEAQKQAEKLMKQIGVKNVKLSEYEMS
  IAAHLVDPLNMHVTWSDIAGLDDVITDLKDTVILPIKKKHLFENSRLLQPPKGVLLYGPPGCGKTLIAKATAKEA
  GCRFINLQPSTLTDKWYGESQKLAAAVFSLAIKLQPSIIFIDEIDSFLRNRSSSDHEATAMMKAQFMSLWDGLDT
  DHSCQVIVMGATNRPQDLDSAIMRRMPTRFHINQPALKQREAILKLILKNENVDRHVDLLEVAQETDGFSGSDLK
  EMCRDAALLCVREYVNSTSEESHDEDEIRPVQQQDLHRAIEKMKKSKDAAFQNVLTHVCLD

• Structural information:
  • Interpro: IPR003593  IPR041569  IPR003959  IPR003960  IPR027417  
  • Prosite: PS00674
  • STRING: ENSP00000339017
• Other Databases: GeneCards:  ATAD1  Malacards:  ATAD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007613	memory	ISS	biological process
GO:0051967	negative regulation of synaptic transmission, glutamatergic	ISS	biological process
GO:0045211	postsynaptic membrane	ISS	cellular component
GO:0016887	ATPase activity	ISS	molecular function
GO:0007612	learning	ISS	biological process
GO:0002092	positive regulation of receptor internalization	ISS	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0007613	memory	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	IEA	biological process
GO:0002092	positive regulation of receptor internalization	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0051967	negative regulation of synaptic transmission, glutamatergic	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005778	peroxisomal membrane	HDA	cellular component

Diseases

Associated diseases	References
Hyperekplexia	KEGG:H00769
Hyperekplexia	KEGG:H00769
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R