XRCC1

The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity.

Full Name

XRCC1

Function

Scaffold protein involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes (PubMed:11163244, PubMed:28002403).
Negatively regulates ADP-ribosyltransferase activity of PARP1 during base-excision repair in order to prevent excessive PARP1 activity (PubMed:34102106, PubMed:34811483, PubMed:28002403).
Recognizes and binds poly-ADP-ribose chains: specifically binds auto-poly-ADP-ribosylated PARP1, limiting its activity (PubMed:14500814, PubMed:34102106, PubMed:34811483).

Biological Process

Biological Process base-excision repair Source:UniProtKB2 Publications
Biological Process cerebellum morphogenesis Source:Ensembl
Biological Process double-strand break repair via nonhomologous end joining Source:Ensembl
Biological Process hippocampus development Source:Ensembl
Biological Process negative regulation of protection from non-homologous end joining at telomere Source:Ensembl
Biological Process negative regulation of protein ADP-ribosylation Source:UniProtKB2 Publications
Biological Process positive regulation of DNA ligase activity Source:UniProtKB1 Publication
Biological Process positive regulation of single strand break repair Source:UniProtKB1 Publication
Biological Process replication-born double-strand break repair via sister chromatid exchange Source:UniProtKB1 Publication
Biological Process response to hydroperoxide Source:UniProtKB1 Publication
Biological Process response to hypoxia Source:Ensembl
Biological Process response to organic substance Source:Ensembl
Biological Process response to xenobiotic stimulus Source:Ensembl
Biological Process single strand break repair Source:InterPro
Biological Process telomeric DNA-containing double minutes formation Source:Ensembl
Biological Process voluntary musculoskeletal movement Source:UniProtKB1 Publication

Cellular Location

Nucleus
Chromosome
Moves from the nucleoli to the global nuclear chromatin upon DNA damage (PubMed:28002403).
Recruited to DNA damage sites fowwing interaction with poly-ADP-ribose chains (PubMed:14500814).

Involvement in disease

Spinocerebellar ataxia, autosomal recessive, 26 (SCAR26):
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR26 is a progressive disease characterized by gait and limb ataxia, loss of independent ambulation, oculomotor apraxia, and peripheral neuropathy with distal muscle weakness and areflexia.

PTM

Phosphorylation of Ser-371 causes dimer dissociation. Phosphorylation by CK2 promotes interaction with APTX and APLF.
Sumoylated.