DISEASES

Disease-gene associations mined from literature

Literature associating PARP3 and ARC syndrome

PARP3 [ENSP00000381740]

Protein mono-ADP-ribosyltransferase PARP3; Mono-ADP-ribosyltransferase that mediates mono-ADP- ribosylation of target proteins and plays a key role in the response to DNA damage (PubMed:16924674, PubMed:20064938, PubMed:21211721, PubMed:21270334, PubMed:25043379, PubMed:24598253). Mediates mono-ADP- ribosylation of glutamate, aspartate or lysine residues on target proteins . In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation . Associates with a number of DNA repair factors and is involved in the response to exogenous and endogenous DNA strand breaks . Together with APLF, promotes the retention of the LIG4-XRCC4 complex on chromatin and accelerate DNA ligation during non-homologous end-joining (NHEJ) . Cooperates with the XRRC6-XRCC5 (Ku70-Ku80) heterodimer to limit end-resection thereby promoting accurate NHEJ . Involved in DNA repair by mediating mono-ADP- ribosylation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism, such as XRRC5 and XRCC6 . ADP-ribosylation follows DNA damage and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks (PubMed:16924674, PubMed:21211721, PubMed:21270334). May link the DNA damage surveillance network to the mitotic fidelity checkpoint . In addition to proteins, also able to ADP-ribosylate DNA: mediates DNA mono-ADP-ribosylation of DNA strand break termini via covalent addition of a single ADP-ribose moiety to a 5'- or 3'-terminal phosphate residues in DNA containing multiple strand breaks (PubMed:29361132, PubMed:29520010). Acts as a negative regulator of immunoglobulin class switch recombination, probably by controlling the level of AICDA /AID on the chromatin (By similarity). ECO:0000269|PubMed:16924674, ECO:0000269|PubMed:20064938, ECO:0000269|PubMed:21211721, ECO:0000269|PubMed:21270334, ECO:0000269|PubMed:24598253, ECO:0000269|PubMed:25043379,

Synonyms:  PARP3,  PARP3p,  hPARP3,  A0A024R2X5,  C9J9C7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM