Relation Results

Identifier	Residue	Organism
SIGNOR-257600		Mus musculus
pmid	sentence
29175432	MLH1 and PMS2 proteins form the MutLα heterodimer, which plays a major role in DNA mismatch repair (MMR) in humans

Publications:

1

Organism:

Mus Musculus

Pathways:

DNA repair in cancer

Identifier	Residue	Organism
SIGNOR-265722		Homo sapiens
pmid	sentence
10801849	HeLa pol epsilon was initially purified as a soluble factor that restored repair synthesis to cytosol-depleted, UV-irradiated permeabilized human fibroblasts (11). By reconstituting the nucleotide excision repair (NER) process from purified proteins, Shivji et al. (12) further showed that mammalian pol epsilon was the most efficient enzyme in performing gap-filling DNA synthesis during NER.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Sequence	Organism	Cell Line
SIGNOR-251507
pmid	sentence
27649245	Homologous recombination (HR) plays an important role in maintaining genomic integrity. It is responsible for repair of the most harmful DNA lesions, DNA double-strand breaks and inter-strand DNA cross-links. HR function is also essential for proper segregation of homologous chromosomes in meiosis, maintenance of telomeres, and resolving stalled replication forks. Defects in HR often lead to genetic diseases and cancer. Rad52 is one of the key HR proteins, which is evolutionarily conserved from yeast to humans\| in mammals, Rad52 knockouts showed no significant DNA repair or recombination phenotype. \|These new findings indicate an important backup role for Rad52, which complements the main HR mechanism in mammals.

Publications:

1

Pathways:

Cell cycle: G2/M phase transition

Identifier	Residue	Organism
SIGNOR-265487		Homo sapiens
pmid	sentence
27427983	The SMC5/6 complex, consisting of SMC5, SMC6, and non-SMC elements NSMCE1–6, has key roles in the maintenance of chromosome integrity during mitotic proliferation, meiosis, and DNA repair and is critical for genome stability. In particular, the SMC5/6 complex is involved in resolving intermediates during recombination (5, 6) and other complex DNA structures, such as stalled replication forks

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Sequence	Organism	Cell Line
SIGNOR-263228
pmid	sentence
25400280	The BRCA1–C complex consisting of BRCA1, Mre11:Rad50:Nbs1 (collectively known as the MRN complex) and CtIP plays a role in DSB end resection, a process that also involves EXO1 and DNA2

Publications:

1

Identifier	Residue	Organism
SIGNOR-261961		Homo sapiens
pmid	sentence
17996711	Homologous recombination (HR) repairs chromosome damage and is indispensable for tumor suppression in humans. RAD51 mediates the DNA strand-pairing step in HR. RAD51 associated protein 1 (RAD51AP1) is a RAD51-interacting protein whose function has remained elusive. Biochemical and cytological results show that RAD51AP1 functions at a step subsequent to the assembly of the RAD51-ssDNA nucleoprotein filament. Purified RAD51AP1 binds both dsDNA and a D loop structure and, only when able to interact with RAD51, greatly stimulates the RAD51-mediated D loop reaction.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-263959		Mus musculus
pmid	sentence
26221032	Cut repeats from the CUX1 protein were recently shown to stimulate 8-oxoguanine DNA glycosylase 1 (OGG1), an enzyme that removes oxidized purines from DNA and introduces a single strand break through its apurinic/apyrimidinic lyase activity to initiate base excision repair.

Publications:

1

Organism:

Mus Musculus

Identifier	Residue	Organism
SIGNOR-257596		Mus musculus
pmid	sentence
9500552	Germline mutations in the human MSH2, MLH1, PMS2 and PMS1 DNA mismatch repair (MMR) gene homologues appear to be responsible for most cases of hereditary non-polyposis colorectal cancer

Publications:

1

Organism:

Mus Musculus

Identifier	Residue	Sequence	Organism	Cell Line
SIGNOR-251502
pmid	sentence
17713585	The mre11_rad50_nbs1 (mrn) complex is among the earliest respondents to dna double-strand breaks (dsbs).\|Current emerging structural and biological evidence suggests that MRN has 3 coupled critical roles in DSB sensing, stabilization, signaling, and effector scaffolding: (1) expeditious establishment of protein--nucleic acid tethering scaffolds for the recognition and stabilization of DSBs; (2) initiation of DSB sensing, cell-cycle checkpoint signaling cascades, and establishment of epigenetic marks via the ATM kinase; and (3) functional regulation of chromatin remodeling in the vicinity of a DSB.

Publications:

1

Pathways:

DNA repair in cancer, Cell cycle: G2/M phase transition

Identifier	Residue	Organism
SIGNOR-264534		in vitro
pmid	sentence
19837014	The DNA ligase IV-Xrcc4 complex is responsible for the ligation of broken DNA ends in the non-homologous end-joining (NHEJ) pathway of DNA double strand break repair in mammals.

Publications:

1

Organism:

In Vitro

Identifier	Residue	Organism
SIGNOR-261960		Homo sapiens
pmid	sentence
26323318	From these results, we can conclude that NUCKS1 plays a role in HR DNA repair, as does its paralog RAD51AP1. we have tested and uncovered a role for NUCKS1 in HR and in maintaining DNA replication integrity and genome stability.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-266790		Homo sapiens
pmid	sentence
31225475	L3MBTL2 links RNF8 and RNF168 in the DNA double strand break response. The protein kinase ATM phosphorylates L3MBTL2, which recruits it to the DNA lesion by promoting the interaction between MDC1 and L3MBTL2. L3MBTL2 is subsequently ubiquitinated by RNF8, which acts as a docking site for RNF168, thereby recruiting the ubiquitin ligase to the damage site. RNF168, in turn, ubiquitinates H2A-type histones to amplify the DNA damage response and recruit downstream DNA repair proteins for proper DSB signaling.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-268490		Homo sapiens
pmid	sentence
21969602	The NF90/NF45 complex participates in DNA break repair via nonhomologous end joining

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-258984		Homo sapiens
pmid	sentence
30327428	A coordinated repair process mediated by the xeroderma pigmentosum complementation group proteins (XPs), which include XPA through XPG. XPA is indispensable in this pathway and has reported functions in DNA damage verification, stabilization of repair intermediates and positioning of NER factors

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-259975		Mus musculus
pmid	sentence
20711430	Rad21-cohesin haploinsufficiency impedes DNA repair and enhances gastrointestinal radiosensitivity in mice

Publications:

1

Organism:

Mus Musculus

Pathways:

Acute Myeloid Leukemia

Identifier	Residue	Organism
SIGNOR-265723		Homo sapiens
pmid	sentence
19837034	DNA Pol gamma, in contrast to the many nuclear DNA polymerases (DNAPs) that have specialized functions, is solely responsible for DNA replication and repair in mitochondria.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-261824		Homo sapiens
pmid	sentence
28912125	The BLM gene product, BLM, is a RECQ helicase that is involved in DNA replication and repair of DNA double-strand breaks by the homologous recombination (HR) pathway. During HR, BLM has both pro- and anti-recombinogenic activities, either of which may contribute to maintenance of genomic integrity.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-258951		Homo sapiens
pmid	sentence
27287744	RECQL4 is important for genome stability and DNA damage repair.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-258983		Homo sapiens
pmid	sentence
19652551	Our work provides the first demonstration of the major importance of WRN in repair of a specific class of DSB in human cells.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Sequence	Organism	Cell Line
SIGNOR-263204
pmid	sentence
24832651	The exact function of the BRCC complex in HR is not entirely elucidated, but its E3 ligase activity may promote the mobilization and stabilization of the complex at broken chromatin sites were the complex can stabilize the formation of RAD51 filaments thus facilitating the repair process

Publications:

1

Identifier	Residue	Organism
SIGNOR-264531		Homo sapiens
pmid	sentence
10854421	The DNA-dependent protein kinase (DNA-PK), consisting of Ku and the DNA-PK catalytic subunit (DNA-PKcs), and the DNA ligase IV-XRCC4 complex function together in the repair of DNA double-strand breaks by non-homologous end joining.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Sequence	Organism	Cell Line
SIGNOR-275683
pmid	sentence
23195996	The base excision repair DNA N-glycosylase MBD4 (also known as MED1), an interactor of the DNA mismatch repair protein MLH1, plays a central role in the maintenance of genomic stability of CpG sites by removing thymine and uracil from G:T and G:U mismatches, respectively.

Publications:

1

Identifier	Residue	Organism
SIGNOR-264529		Mus musculus
pmid	sentence
26895424	We show in mouse cells that the cNHEJ-dependent fusion of chromosomes containing uncapped telomeres requires the activity of CHD2. Together, these findings argue that the chromatin response mediated by CHD2 is triggered by the presence of DSBs and promotes repair of these lesions by the canonical KU-dependent NHEJ pathway.

Publications:

1

Organism:

Mus Musculus

Identifier	Residue	Sequence	Organism	Cell Line
SIGNOR-263226
pmid	sentence
25400280	Intriguingly, another BRCA1 complex, the BRCA1–A complex, which itself contains RAP80 along with MERIT40, BRCC36/45 and Abraxas, has been reported to inhibit DNA end resection, suggesting that, in some contexts, BRCA1 may function to limit and/or prevent over resection of DNA breaks.

Publications:

1

Identifier	Residue	Sequence	Organism	Cell Line
SIGNOR-251500
pmid	sentence
15549093	The BRCA1 protein also contributes to cell-cycle arrest and DNA repair by homologous recombination

Publications:

1

Pathways:

DNA repair in cancer, Cell cycle: G2/M phase transition

Identifier	Residue	Organism
SIGNOR-257595		Mus musculus
pmid	sentence
9500552	Germline mutations in the human MSH2, MLH1, PMS2 and PMS1 DNA mismatch repair (MMR) gene homologues appear to be responsible for most cases of hereditary non-polyposis colorectal cancer

Publications:

1

Organism:

Mus Musculus

Identifier	Residue	Organism
SIGNOR-257594		Mus musculus
pmid	sentence
9500552	Germline mutations in the human MSH2, MLH1, PMS2 and PMS1 DNA mismatch repair (MMR) gene homologues appear to be responsible for most cases of hereditary non-polyposis colorectal cancer

Publications:

1

Organism:

Mus Musculus

Identifier	Residue	Sequence	Organism	Cell Line
SIGNOR-251508
pmid	sentence
27660832	Rad51 is a key component of homologous recombination (HR) to repair DNA double-strand breaks and it forms Rad51 recombinase filaments of broken single-stranded DNA to promote HR. In addition to its role in DNA repair and cell cycle progression, Rad51 contributes to the reprogramming process during the generation of induced pluripotent stem cells

Publications:

1

Pathways:

Acute Myeloid Leukemia, DNA repair in cancer, FLT3-ITD in AML, Cell cycle: G2/M phase transition

Identifier	Residue	Organism
SIGNOR-264889		Homo sapiens
pmid	sentence
27875297	Uracil N-glycosylase 2 (UNG2), the nuclear isoform of UNG, catalyzes the removal of uracil or 5-fluorouracil lesions that accumulate in DNA following treatment with the anticancer agents 5-fluorouracil and 5-fluorodeoxyuridine (floxuridine), a 5-fluorouracil metabolite. By repairing these DNA lesions before they can cause cell death, UNG2 promotes cancer cell survival and is therefore critically involved in tumor resistance to these agents.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-259064		in vitro
pmid	sentence
10542278	HMLH1 and hPMS2 function in postreplicative mismatch repair in the form of a heterodimer referred to as hMutLα. Tumors or cell lines lacking this factor display mutator phenotypes and microsatellite instability, and mutations in the hMLH1 andhPMS2 genes predispose to hereditary non-polyposis colon cancer. Recombinant hMutLα and hMutLβ, expressed in the baculovirus system, were tested for their activity in an in vitro mismatch repair assay.

Publications:

1

Organism:

In Vitro

Pathways:

DNA repair in cancer

Identifier	Residue	Organism
SIGNOR-259365		Homo sapiens
pmid	sentence
14583450	Ribonucleotide reductase (RR) is responsible for the de novo conversion of the ribonucleoside diphosphates to deoxyribonucleoside diphosphates, which are essential for DNA synthesis and repair.RR consists of two subunits, hRRM1 and hRRM2.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-259061		Homo sapiens
pmid	sentence
21242293	In this study we show that, in human cells, polη becomes phosphorylated by ATR at Ser601 after UV irradiation. Phosphorylation requires physical interaction of polη with Rad18 but is independent of PCNA monoubiquitination. We show that UV-induced phosphorylation of polη is required for normal survival and postreplication repair and is involved in checkpoint control.

Publications:

1

Organism:

Homo Sapiens

Pathways:

DNA repair in cancer

Identifier	Residue	Organism
SIGNOR-257597		Mus musculus
pmid	sentence
9500552	Germline mutations in the human MSH2, MLH1, PMS2 and PMS1 DNA mismatch repair (MMR) gene homologues appear to be responsible for most cases of hereditary non-polyposis colorectal cancer

Publications:

1

Organism:

Mus Musculus

Identifier	Residue	Organism
SIGNOR-266789		Homo sapiens
pmid	sentence
31225475	L3MBTL2 links RNF8 and RNF168 in the DNA double strand break response. The protein kinase ATM phosphorylates L3MBTL2, which recruits it to the DNA lesion by promoting the interaction between MDC1 and L3MBTL2. L3MBTL2 is subsequently ubiquitinated by RNF8, which acts as a docking site for RNF168, thereby recruiting the ubiquitin ligase to the damage site. RNF168, in turn, ubiquitinates H2A-type histones to amplify the DNA damage response and recruit downstream DNA repair proteins for proper DSB signaling.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-269323		Homo sapiens
pmid	sentence
30860024	Transcription factor IIH (TFIIH) is a heterodecameric protein complex critical for transcription initiation by RNA polymerase II and nucleotide excision DNA repair.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Organism
SIGNOR-264530		Homo sapiens
pmid	sentence
10854421	The DNA-dependent protein kinase (DNA-PK), consisting of Ku and the DNA-PK catalytic subunit (DNA-PKcs), and the DNA ligase IV-XRCC4 complex function together in the repair of DNA double-strand breaks by non-homologous end joining.

Publications:

1

Organism:

Homo Sapiens

Identifier	Residue	Sequence	Organism	Cell Line
SIGNOR-265721
pmid	sentence
24035200	Analysis of the subcellular localization of Pol subunits in response to UV indicates that Pol delta3 is present at sites of DNA damage long before repair is complete, so that Pol delta3 is the form of Pol activity that is likely involved in gap filling reactions during DNA repair

Publications:

1

Identifier	Residue	Organism
SIGNOR-263958		Mus musculus
pmid	sentence
26221032	Genetic inactivation in mouse embryo fibroblasts or CUX2 knockdown in HCC38 cells delayed DNA repair and increased DNA damage. These results demonstrate that CUX2 functions as an accessory factor that stimulates the repair of oxidative DNA damage

Publications:

1

Organism:

Mus Musculus

Identifier	Residue	Organism
SIGNOR-259951		Homo sapiens
pmid	sentence
31544964	Chromatin‐bound cGAS is an inhibitor of DNA repair and hence accelerates genome destabilization and cell death

Publications:

1

Organism:

Homo Sapiens

Name	DNA_repair
Primary ID	SIGNOR-PH57
Type	phenotype
Description	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. (GO:0006281).
Relations	39
Pathways	Acute Myeloid Leukemia, DNA repair in cancer, FLT3-ITD in AML, Cell cycle: G2/M phase transition

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