DISEASES

Disease-gene associations mined from literature

Literature associating PARP1 and neuroma

PARP1 [ENSP00000355759]

Poly [ADP-ribose] polymerase 1; Poly-ADP-ribosyltransferase that mediates poly-ADP- ribosylation of proteins and plays a key role in DNA repair (PubMed:17177976, PubMed:18172500, PubMed:19344625, PubMed:19661379, PubMed:23230272, PubMed:25043379, PubMed:26344098). Mainly mediates glutamate and aspartate ADP-ribosylation of target proteins: the ADP-D- ribosyl group of NAD(+) is transferred to the acceptor carboxyl group of glutamate and aspartate residues and further ADP-ribosyl groups are transferred to the 2'-position of the terminal adenosine moiety, building up a polymer with an average chain length of 20-30 units . Mediates the poly(ADP-ribosyl)ation of a number of proteins, including itself, APLF and CHFR . Also mediates serine ADP-ribosylation of target proteins following interaction with HPF1; HPF1 conferring serine specificity . Probably also catalyzes tyrosine ADP-ribosylation of target proteins following interaction with HPF1 . Catalyzes the poly-ADP- ribosylation of histones in a HPF1-dependent manner . Involved in the base excision repair (BER) pathway by catalyzing the poly-ADP-ribosylation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism (PubMed:17177976, PubMed:18172500, PubMed:19344625, PubMed:19661379, PubMed:23230272). 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:17177976, PubMed:18172500, PubMed:19344625, PubMed:19661379, PubMed:23230272). In addition to base excision repair (BER) pathway, also involved in double-strand breaks (DSBs) repair: together with TIMELESS, accumulates at DNA damage sites and promotes homologous recombination repair by mediating poly-ADP-ribosylation . In addition to proteins, also able to ADP-ribosylate DNA: catalyzes ADP-ribosylation of DNA strand break termini containing terminal phosphates and a 2'-OH group in single- and double-stranded DNA, respectively . Required for PARP9 and DTX3L recruitment to DNA damage sites . PARP1- dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites . Acts as a regulator of transcription: positively regulates the transcription of MTUS1 and negatively regulates the transcription of MTUS2/TIP150 . With EEF1A1 and TXK, forms a complex that acts as a T-helper 1 (Th1) cell- specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production . Involved in the synthesis of ATP in the nucleus, together with NMNAT1, PARG and NUDT5 . Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming . ECO:0000269|PubMed:17396150, ECO:0000269|PubMed:18172500, ECO:0000269|PubMed:19344625, ECO:0000269|PubMed:19661379, ECO:0000269|PubMed:19764761, ECO:0000269|PubMed:23230272, ECO:0000269|PubMed:25043379, ECO:0000269|PubMed:26344098, ECO:0000269|PubMed:27067600, ECO:0000269|PubMed:27257257, ECO:0000269|PubMed:27471034, ECO:0000269|PubMed:28190768, ECO:0000269|PubMed:30257210, ECO:0000269|PubMed:30356214,

Synonyms:  PARP1,  PARP1p,  hPARP1,  A0A024R3T8,  P09874 ...

Linkouts:  STRING  Pharos  UniProt  OMIM