ATP23 (ATP23 metallopeptidase and ATP synthase assembly factor homolog)

Gene

• Entrez ID: 91419
• Gene name: ATP23 metallopeptidase and ATP synthase assembly factor homolog
• Gene symbol: ATP23
• Synonyms (NCBI Gene): KUB3, XRCC6BP1
• Chromosome: 12
• Chromosome location: 12q14.1
• Summary: 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004677	Function	DNA-dependent protein kinase activity	TAS	10219089
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005958	Component	DNA-dependent protein kinase-DNA ligase 4 complex	NAS	10219089
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS	10219089
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030054	Component	Cell junction	IDA
GO:0033615	Process	Mitochondrial proton-transporting ATP synthase complex assembly	IBA
GO:0034982	Process	Mitochondrial protein processing	IBA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 619760
• HGNC: 29452
• e!Ensembl: ENSG00000166896

Protein

• UniProt ID: Q9Y6H3
• Protein name: Mitochondrial inner membrane protease ATP23 homolog (EC 3.4.24.-) (Ku70-binding protein 3) (XRCC6-binding protein 1)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09768	Peptidase_M76	50 → 220	Peptidase M76 family	Family

• Sequence:

  MAGAPDERRRGPAAGEQLQQQHVSCQVFPERLAQGNPQQGFFSSFFTSNQKCQLRLLKTL
  ETNPYVKLLLDAMKHSGCAVNKDRHFSCEDCNGNVSGGFDASTSQIVLCQNNIHNQAHMN
  RVVTHELIHAFDHCRAHVDWFTNIRHLACSEVRAANLSGDCSLVNEIFRLHFGLKQHHQT
  CVRDRATLSILAVRNISKEVAKKAVDEVFESCFNDHEPFGRIPHNKTYARYAHRDFENRD
  RYYSNI

• Sequence length: 246

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	11571779		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11571779		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11571779, 18066094, 23670597		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23670597, 35406779	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11571779, 18066094, 23670597		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11571779, 23670597		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23670597	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	20405052	Associate	★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	11571779		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28460268		★☆☆☆☆ Found in Text Mining only