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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Enzymes FDA approved drug targets Metabolic proteins Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
q42.12
Chromosome location (bp)
226360210 - 226408154
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Poly-ADP-ribosyltransferase that mediates poly-ADP-ribosylation of proteins and plays a key role in DNA repair 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21. Mediates glutamate, aspartate, serine, histidine or tyrosine ADP-ribosylation of proteins: the ADP-D-ribosyl group of NAD(+) is transferred to the acceptor carboxyl group of target 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 22,23,24,25,26,27,28. Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage 29,30. Specificity for the different amino acids is conferred by interacting factors, such as HPF1 and NMNAT1 31,32,33,34,35,36,37. Following interaction with HPF1, catalyzes serine ADP-ribosylation of target proteins; HPF1 confers serine specificity by completing the PARP1 active site 38,39,40,41,42,43,44. Also catalyzes tyrosine ADP-ribosylation of target proteins following interaction with HPF1 45,46. Following interaction with NMNAT1, catalyzes glutamate and aspartate ADP-ribosylation of target proteins; NMNAT1 confers glutamate and aspartate specificity (By similarity). PARP1 initiates the repair of DNA breaks: recognizes and binds DNA breaks within chromatin and recruits HPF1, licensing serine ADP-ribosylation of target proteins, such as histones (H2BS6ADPr and H3S10ADPr), thereby promoting decompaction of chromatin and the recruitment of repair factors leading to the reparation of DNA strand breaks 47,48,49,50,51,52,53,54. HPF1 initiates serine ADP-ribosylation but restricts the polymerase activity of PARP1 in order to limit the length of poly-ADP-ribose chains 55,56,57. 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 58,59. Mediates the poly-ADP-ribosylation of a number of proteins, including itself, APLF, CHFR and NFAT5 60,61,62. 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 63. Required for PARP9 and DTX3L recruitment to DNA damage sites 64. PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites 65. PARP1-mediated DNA repair in neurons plays a role in sleep: senses DNA damage in neurons and promotes sleep, facilitating efficient DNA repair (By similarity). In addition to DNA repair, also involved in other processes, such as transcription regulation, programmed cell death, membrane repair, adipogenesis and innate immunity 66,67,68,69,70,71,72,73,74. Acts as a repressor of transcription: binds to nucleosomes and modulates chromatin structure in a manner similar to histone H1, thereby altering RNA polymerase II 75,76. Acts both as a positive and negative regulator of transcription elongation, depending on the context 77,78. Acts as a positive regulator of transcription elongation by mediating poly-ADP-ribosylation of NELFE, preventing RNA-binding activity of NELFE and relieving transcription pausing 79. Acts as a negative regulator of transcription elongation in response to DNA damage by catalyzing poly-ADP-ribosylation of CCNT1, disrupting the phase separation activity of CCNT1 and subsequent activation of CDK9 80. Involved in replication fork progression following interaction with CARM1: mediates poly-ADP-ribosylation at replication forks, slowing fork progression 81. Poly-ADP-ribose chains generated by PARP1 also play a role in poly-ADP-ribose-dependent cell death, a process named parthanatos (By similarity). Also acts as a negative regulator of the cGAS-STING pathway 82,83,84. Acts by mediating poly-ADP-ribosylation of CGAS: PARP1 translocates into the cytosol following phosphorylation by PRKDC and catalyzes poly-ADP-ribosylation and inactivation of CGAS 85. Acts as a negative regulator of adipogenesis: catalyzes poly-ADP-ribosylation of histone H2B on 'Glu-35' (H2BE35ADPr) following interaction with NMNAT1, inhibiting phosphorylation of H2B at 'Ser-36' (H2BS36ph), thereby blocking expression of pro-adipogenetic genes (By similarity). Involved in the synthesis of ATP in the nucleus, together with NMNAT1, PARG and NUDT5 86. Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming 87....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis, DNA damage, DNA repair, Immunity, Innate immunity, Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, NAD, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers FDA approved drug targets Small molecule drugs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000785[chromatin] GO:0002376[immune system process] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003723[RNA binding] GO:0003824[catalytic activity] GO:0003950[NAD+ ADP-ribosyltransferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006366[transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007005[mitochondrion organization] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0008152[metabolic process] GO:0008270[zinc ion binding] GO:0010332[response to gamma radiation] GO:0010613[positive regulation of cardiac muscle hypertrophy] GO:0010990[regulation of SMAD protein complex assembly] GO:0016020[membrane] GO:0016051[carbohydrate biosynthetic process] GO:0016540[protein autoprocessing] GO:0016604[nuclear body] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0016779[nucleotidyltransferase activity] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0023019[signal transduction involved in regulation of gene expression] GO:0030225[macrophage differentiation] GO:0030331[nuclear estrogen receptor binding] GO:0030592[DNA ADP-ribosylation] GO:0031491[nucleosome binding] GO:0032042[mitochondrial DNA metabolic process] GO:0032869[cellular response to insulin stimulus] GO:0032880[regulation of protein localization] GO:0032991[protein-containing complex] GO:0032993[protein-DNA complex] GO:0033148[positive regulation of intracellular estrogen receptor signaling pathway] GO:0034599[cellular response to oxidative stress] GO:0034644[cellular response to UV] GO:0035861[site of double-strand break] GO:0036211[protein modification process] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042826[histone deacetylase binding] GO:0043504[mitochondrial DNA repair] GO:0043596[nuclear replication fork] GO:0044030[regulation of DNA methylation] GO:0045087[innate immune response] GO:0045188[regulation of circadian sleep/wake cycle, non-REM sleep] GO:0045824[negative regulation of innate immune response] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0046697[decidualization] GO:0046872[metal ion binding] GO:0047485[protein N-terminus binding] GO:0050790[regulation of catalytic activity] GO:0051052[regulation of DNA metabolic process] GO:0051287[NAD binding] GO:0051901[positive regulation of mitochondrial depolarization] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060545[positive regulation of necroptotic process] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070212[protein poly-ADP-ribosylation] GO:0070213[protein auto-ADP-ribosylation] GO:0070412[R-SMAD binding] GO:0071294[cellular response to zinc ion] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0071932[replication fork reversal] GO:0090734[site of DNA damage] GO:0140294[NAD DNA ADP-ribosyltransferase activity] GO:0140805[NAD+-protein-serine ADP-ribosyltransferase activity] GO:0140806[NAD+- protein-aspartate ADP-ribosyltransferase activity] GO:0140807[NAD+-protein-glutamate ADP-ribosyltransferase activity] GO:0140808[NAD+-protein-tyrosine ADP-ribosyltransferase activity] GO:0140815[NAD+-protein-histidine ADP-ribosyltransferase activity] GO:1900182[positive regulation of protein localization to nucleus] GO:1901216[positive regulation of neuron death] GO:1903376[regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway] GO:1903518[positive regulation of single strand break repair] GO:1904044[response to aldosterone] GO:1904357[negative regulation of telomere maintenance via telomere lengthening] GO:1904646[cellular response to amyloid-beta] GO:1904762[positive regulation of myofibroblast differentiation] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:1990090[cellular response to nerve growth factor stimulus] GO:1990404[NAD+-protein ADP-ribosyltransferase activity] GO:1990966[ATP generation from poly-ADP-D-ribose] GO:2000679[positive regulation of transcription regulatory region DNA binding] GO:2001170[negative regulation of ATP biosynthetic process]
The Human Protein Atlas project is funded
