Basic Information

Symbol
XRCC6BP1
RNA class
mRNA
Alias
ATP23 Metallopeptidase And ATP Synthase Assembly Factor Homolog KUB3 XRCC6BP1 Mitochondrial Inner Membrane Protease ATP23 Homolog XRCC6-Binding Protein 1 Ku70-Binding Protein 3 ATP23 Metallopeptidase And ATP Synthase Assembly Factor Homolog (S. Cerevisiae) XRCC6 Binding Protein 1 Ku70 Binding Protein 3 EC 3.4.24.- EC 3.4.24
Location (GRCh38)
12:57906039-57959148
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_033276.4
Sequence length
3134.0 nt
GC content
0.4703
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 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]

Forensic Context

No relevant information is available at the moment.