XRCC1 phospho S518 + T519 + T523
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:28002403, PubMed:34102106, PubMed:34811483). Recognizes and binds poly-ADP-ribose chains: specifically binds auto-poly-ADP-ribosylated PARP1, limiting its activity (PubMed:14500814, PubMed:34102106, PubMed:34811483).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation of Ser-371 causes dimer dissociation. Phosphorylation by CK2 promotes interaction with APTX and APLF.
Sumoylated.
Tissue Specificity
Expressed in fibroblasts, retinal pigmented epithelial cells and lymphoblastoid cells (at protein level).
Cellular localization
- 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).
Alternative names
DNA repair protein XRCC1, X-ray repair cross-complementing protein 1, XRCC1