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Gene : ATP23 Homo sapiens

Name  ? ATP23 metallopeptidase and ATP synthase assembly factor homolog Cytological Location  12q14.1
Brief Description  ATP23 metallopeptidase and ATP synthase assembly factor homolog
Description  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 the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
  • synonyms:
  • NM_033276,
  • uc001sqp.4,
  • XRCC6BP1,
  • HGNC:29452,
  • KUB3,
  • XRCC6BP1,
  • ATP23 metallopeptidase and ATP synthase assembly factor homolog (S. cerevisiae),
  • KUB3,
  • OTTHUMG00000170493,
  • Ku70 binding protein 3,
  • XRCC6 binding protein 1,
  • AF078164,
  • ATP23
  • identifiers:
  • 91419,
  • ENSG00000166896,
  • ATP23

Genome feature

Region: gene ? Length: 17582  
Location: 12:57941567-57959148 Cyto location: 12q14.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

29808 SN Ps

4 Cross References

15 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results