• Gene id: 91419

Gene Summary

• Gene Symbol: ATP23   Gene   UCSC   Ensembl
• Aliases: KUB3, XRCC6BP1
• Gene name: ATP23 metallopeptidase and ATP synthase assembly factor homolog
• Alternate names: mitochondrial inner membrane protease ATP23 homolog, Ku70-binding protein 3, XRCC6-binding protein 1,
• Gene location: 12q14.1 (57941566: 57959147)     Exons: 8     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases

Protein Summary

• Protein general information: Q9Y6H3  
  • Name: Mitochondrial inner membrane protease ATP23 homolog (EC 3.4.24. ) (Ku70 binding protein 3) (XRCC6 binding protein 1)
  • Length: 246  
  • Mass: 28081
• Sequence:

  MAGAPDERRRGPAAGEQLQQQHVSCQVFPERLAQGNPQQGFFSSFFTSNQKCQLRLLKTLETNPYVKLLLDAMKH
  SGCAVNKDRHFSCEDCNGNVSGGFDASTSQIVLCQNNIHNQAHMNRVVTHELIHAFDHCRAHVDWFTNIRHLACS
  EVRAANLSGDCSLVNEIFRLHFGLKQHHQTCVRDRATLSILAVRNISKEVAKKAVDEVFESCFNDHEPFGRIPHN
  KTYARYAHRDFENRDRYYSNI

• Structural information:
  • Interpro: IPR019165  
  • Prosite: PS00142
  • STRING: ENSP00000300145
• Other Databases: GeneCards:  ATP23  Malacards:  ATP23

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034982	mitochondrial protein processing	IBA	biological process
GO:0031314	extrinsic component of mitochondrial inner membrane	IBA	cellular component
GO:0033615	mitochondrial proton-transporting ATP synthase complex assembly	IBA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005958	DNA-dependent protein kinase-DNA ligase 4 complex	NAS	cellular component
GO:0004677	DNA-dependent protein kinase activity	TAS	molecular function
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray