Property Summary

NCBI Gene PubMed Count 76
PubMed Score 45.38
PubTator Score 69.70

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
hepatocellular carcinoma 1.100 3.9e-05
astrocytic glioma 1.400 6.0e-03
ependymoma 1.500 1.7e-03
oligodendroglioma 1.500 5.8e-04
osteosarcoma -1.199 5.0e-04
chronic lymphosyte leukemia 1.100 2.6e-04
adrenocortical carcinoma 1.262 2.2e-05
pancreatic ductal adenocarcinoma liver m... 1.966 1.9e-03
intraductal papillary-mucinous carcinoma... 1.500 4.6e-03
intraductal papillary-mucinous neoplasm ... 1.400 2.5e-02
lung cancer 2.000 8.2e-03
ovarian cancer -1.400 5.8e-05

MLP Assay (2)

AID Type Active / Inconclusive / Inactive Description
686954 screening 235 / 0 / 29869 uHTS identification of small molecule inhibitors of Artemis endonuclease activity via a fluorescence intensity assay
686956 summary 0 / 0 / 0 Summary assay for small molecule inhibitors of Artemis endonuclease activity

Gene RIF (60)

PMID Text
26476407 Data demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency.
25981738 DCLRE1C and NCF1 mutations have been found by whole-genome sequencing to cause primary immunodeficiency in unrelated patients.
25917813 the nature and location of mutations correlate with the clinical phenotype of severe combined immunodeficiency
25512557 uncovered a nuclease, Artemis, as a PTIP-binding protein
24500713 the 5'-exonuclease is intrinsic to ARTEMIS, making it relevant to the role of ARTEMIS in nonhomologous DNA end joining
24230999 2 siblings are described with combined immunodeficiency (CID) and immunodysregulation caused by compound heterozygous Artemis mutations.
23967291 DNA ligase IV and Artemis act cooperatively to promote nonhomologous end-joining
23465063 Our findings indicate a novel function of Artemis as a molecular switch that converts stalled replication forks harboring single-stranded gap DNA lesions into double-strand breaks, thereby activating the ATM signaling pathway
23219551 Structural basis of DNA ligase IV-Artemis interaction in nonhomologous end-joining.
23044421 these results suggest that Artemis functions as a positive regulator of AMPK signaling by stabilizing the LKB1-AMPK complex.
22730303 Results show that during S-phase Artemis but not ATM is dispensable for homologous recombination of radiation-induced double-strand breaks.
22713703 Artemis levels significantly influence radiation toxicity in human cells
22529269 Point mutations in Artemis that disrupt its interaction with Ligase IV or DNA-PKcs reduce V(D)J recombination.
22527898 study identified a new SCID mutation in a consanguineous Israeli Arab family; sequencing identified an 8 bp insertion in exon 14 (1306ins8) of DCLRE1C in all affected patients; this causes an alteration in amino acid 330 of the protein from cysteine to a stop codon (p.C330X)
22134138 Regulation of p27 by Artemis and DDB2 is important for cell cycle progression in normally proliferating cells.
21785230 analysis of differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells
21641068 The dominant negative mutant Artemis fragment (D37N-413aa) enhanced tumor cell radiosensitivity through blocking activity of endogenous Artemis and DNA repair.
21596788 Artemis is required for the repair of DNA double strand breaks that arise endogenously or following oxidative stress.
21531702 Restoration of chemo/radioresistance by wild-type, but not D165N Artemis suggests that the lack of endonucleolytic trimming of DNA ends is the principal cause of sensitivity to double-strand cleaving agents in Artemis-deficient cells.
21390052 antisense oligonucleotide (AON) covering the intronic mutation restored WT Artemis transcript levels and non-homologous end-joining pathway activity in the patient fibroblasts
20975951 Studies indicate that codon-based models of gene evolution yielded statistical support for the recurrent positive selection of five NHEJ genes during primate evolution: XRCC4, NBS1, Artemis, POLlambda, and CtIP.
20610542 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20522537 Observational study of gene-disease association. (HuGE Navigator)
20496165 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20003485 Plays role in the 3'-processing reaction and protection of the ends of viral DNA (HIV-1) after reverse transcription. Involved in multiple steps including integration and pre-integration steps during retroviral replication.
19953608 Functional analyses on patients' fibroblasts demonstrated that the corresponding alleles carry null mutations of the DCLRE1C gene.
19859091 Observational study of genetic testing. (HuGE Navigator)
19779458 ATM and DNA cross-link repair 1C (PSO2 homolog S. cerevisiae) are required for efficient formation of single-stranded DNA and Rad51 foci at radiation-induced double-strand breaks in G2 phase.
19692705 Mutations in Artemis leads to reduced immunoglobulin class switch recombination.
19423708 recovery from the S phase checkpoint in that in response to replication stress phosphorylation of Artemis by ATR enhances its interaction with Fbw7, which in turn promotes ubiquitylation and the ultimate degradation of cyclin E
19398950 Artemis and DNA-PKcs participate in a new, signaling pathway to modulate p53 function in response to oxidative stress produced by mitochondrial respiration.
19075392 Results identify the first human RS-SCID patient with a DNA-PKcs missense mutation, which also affects Artemis activation and function.
19075292 Results link Artemis to the predominant nonhomologous end-joining pathway during immunoglobulin class switch recombination.
19074885 Observational study of gene-disease association. (HuGE Navigator)
19022407 H254 plays a key role in the Artemis function, as it is critical for its full activity in vitro.
18270339 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18034425 The Artemis C terminus is essential for V(D)J recombination at the normal Artemis expression level.
17932067 There is some sequence-dependent variation in the efficiency and position of hairpin opening by Artemis:DNA-PKcs; providing more clarity on the extent to which the hairpin opening position contributes to junctional diversity in V(D)J recombination.
17242184 ATM regulates G(2)/M checkpoint recovery through inhibitory phosphorylations of Artemis that occur soon after DNA damage, thus setting a molecular switch that, hours later upon completion of DNA repair, allows activation of the Cdk1-cyclin B complex.
17169382 analyzed the phenotype of cells derived from SCID patients with different mutations in the Artemis gene
17121861 Artemis efficiently trims long 3'-phosphoglycate-terminated overhangs induced in DNA by radiation and other radical-based toxins.
16874298 DNA-PK autophosphorylation regulates Artemis access to DNA ends, providing insight into the mechanism of Artemis mediated DNA end processing.
16857680 Ku-mediated assembly of DNA-PK on DNA ends is responsible for a dissociation of the DNA-PKcs.Artemis complex.
16600297 characterization of six DNA-PK phosphorylation sites on Artemis whose phosphorylation shows dependence on its association with DNA-PK catalytic subunit and is induced by double-stranded DNA damage
16093244 The uncharacterized C-terminal domain of Artemis has important regulatory roles; results lead to a model for how DNA-PKcs activates Artemis by phosphorylation
15936993 Artemis:DNA-PKcs nuclease may be important in removing secondary structures that hinder processing of DNA ends during nonhomologous DNA end joining .
15731174 report on a first patient with clinical and immunologic features of OS caused by hypomorphic ARTEMIS mutations. Sequencing of the ARTEMIS gene revealed a compound heterozygosity in this nonhomologous end-joining (NHEJ) factor
15723659 our finding places Artemis at the signaling crossroads downstream of DNA-PKcs and ATM in IR-induced DSB repair.
15574327 ATM, Artemis, and proteins locating to gamma-H2AX foci have roles in double-strand break rejoining
15468306 Atemis is an effector of dna repair that can be phosphorylated by ataxia-telangiectasia-mutated kinase (ATM) and possibly by DNA-dependent protein kinase catalytic subunit and ATM-and Rad3-related kinase depending on the type of DNA damage.
15456891 Data show that Artemis interacts with cell cycle checkpoint proteins and is a phosphorylation target of the checkpoint kinases ATM or ATR after exposure of cells to IR or UV irradiation, respectively.
15071507 The hairpin-opening activity of ARTEMIS and/or its overhang endonucleolytic activity are necessary but its exonuclease activity is not sufficient for the process of V(D)J recombination.
14744996 Artemis uses one or two Zn(II) ions to exert its catalytic activity, like bacterial class B beta-Lact enzymes hydrolyzing beta-lactam compounds.
14726805 Meta-analysis and HuGE review of genotype prevalence, gene-disease association, genetic testing, and healthcare-related. (HuGE Navigator)
14628082 Properties of the Artemis proteins are integrated into the processes of V(D)J recombination and non-homologous end-joining factors.
12592555 the genomic exon 3 deletion is unique to Japan and may be considered as a founder haplotype.
12569164 Artemis has a role in T and B lymphocyte immunodeficiency and in predisposition to lymphoma through the NHEJ pathway of DNA repair
12406895 deletions and missense mutations in the Artemis gene can cause radiosensitive-SCID with defective coding joint formation and lead to an early and complete B-cell differentiation block
12055248 A nonsense founder mutation discovered in exon 8 of Artemis results in the truncation of the deduced protein product and indicates that the SNM1-like gene (Artemis) is the gene responsible for SCID in Athabascan-speaking Native Americans.
11955432 DNA-PKcs regulates Artemis by both phosphorylation and complex formation to permit enzymatic activities that are critical for the hairpin-opening step of V(D)J recombination and for the 5' and 3' overhang processing in nonhomologous DNA end joining.

AA Sequence

MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLYCSPVTKELLL      1 - 70
TSPKYRFWKKRIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLA     71 - 140
QGEAARMELLHSGGRVKDIQSVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAY    141 - 210
GYEYLFTNLSEELGVQVHVNKLDMFRNMPEILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRI    211 - 280
PLHIISIKPSTMWFGERSRKTNVIVRTGESSYRACFSFHSSYSEIKDFLSYLCPVNAYPNVIPVGTTMDK    281 - 350
VVEILKPLCRSSQSTEPKYKPLGKLKRARTVHRDSEEEDDYLFDDPLPIPLRHKVPYPETFHPEVFSMTA    351 - 420
VSEKQPEKLRQTPGCCRAECMQSSRFTNFVDCEESNSESEEEVGIPASLQGDLGSVLHLQKADGDVPQWE    421 - 490
VFFKRNDEITDESLENFPSSTVAGGSQSPKLFSDSDGESTHISSQNSSQSTHITEQGSQGWDSQSDTVLL    491 - 560
SSQERNSGDITSLDKADYRPTIKENIPASLMEQNVICPKDTYSDLKSRDKDVTIVPSTGEPTTLSSETHI    561 - 630
PEEKSLLNLSTNADSQSSSDFEVPSTPEAELPKREHLQYLYEKLATGESIAVKKRKCSLLDT            631 - 692
//

Text Mined References (78)

PMID Year Title
26476407 2015 DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
25981738 2015 Clinical application of whole-genome sequencing in patients with primary immunodeficiency.
25941166 2015 XLS (c9orf142) is a new component of mammalian DNA double-stranded break repair.
25917813 2015 Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
25512557 2014 PTIP associates with Artemis to dictate DNA repair pathway choice.
24500713 2014 Evidence that the DNA endonuclease ARTEMIS also has intrinsic 5'-exonuclease activity.
24230999 2013 The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.
23967291 2013 DNA ligase IV and artemis act cooperatively to suppress homologous recombination in human cells: implications for DNA double-strand break repair.
23465063 2013 Artemis-dependent DNA double-strand break formation at stalled replication forks.
23219551 2012 Structural basis of DNA ligase IV-Artemis interaction in nonhomologous end-joining.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23044421 2012 The nuclear protein Artemis promotes AMPK activation by stabilizing the LKB1-AMPK complex.
22730303 2012 Radiation-induced double-strand breaks require ATM but not Artemis for homologous recombination during S-phase.
22713703 2012 Increased Artemis levels confer radioresistance to both high and low LET radiation exposures.
22529269 2012 Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs.
22527898 2012 Severe combined immunodeficiency (SCID): from the detection of a new mutation to preimplantation genetic diagnosis.
22134138 2011 Artemis interacts with the Cul4A-DDB1DDB2 ubiquitin E3 ligase and regulates degradation of the CDK inhibitor p27.
21785230 2011 Differences in sensitivity to DNA-damaging Agents between XRCC4- and Artemis-deficient human cells.
21641068 2011 The dominant negative mutant Artemis enhances tumor cell radiosensitivity.
21596788 2011 Endogenously induced DNA double strand breaks arise in heterochromatic DNA regions and require ataxia telangiectasia mutated and Artemis for their repair.
21531702 2011 Restoration of G1 chemo/radioresistance and double-strand-break repair proficiency by wild-type but not endonuclease-deficient Artemis.
21390052 2011 Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.
20975951 2010 Ancient and recent adaptive evolution of primate non-homologous end joining genes.
20610542 2010 Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk.
20543526 2010 Functions and regulation of Artemis: a goddess in the maintenance of genome integrity.
20528238 2010 The multifunctional SNM1 gene family: not just nucleases.
20522537 2010 Variation within DNA repair pathway genes and risk of multiple sclerosis.
20496165 2011 Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.
20003485 2009 DNA double strand break repair enzymes function at multiple steps in retroviral infection.
19953608 2010 The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
19859091 2009 Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: an efficient strategy for a small developed country.
19779458 2009 ATM and Artemis promote homologous recombination of radiation-induced DNA double-strand breaks in G2.
19692705 2009 Reduced immunoglobulin class switch recombination in the absence of Artemis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19423708 2009 Artemis regulates cell cycle recovery from the S phase checkpoint by promoting degradation of cyclin E.
19398950 2009 Artemis is a negative regulator of p53 in response to oxidative stress.
19075392 2009 A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
19075292 2008 Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination.
19074885 2008 Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.
19022407 2009 A histidine in the beta-CASP domain of Artemis is critical for its full in vitro and in vivo functions.
18270339 2008 Comprehensive analysis of DNA repair gene variants and risk of meningioma.
18252213 2008 Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.
18034425 2007 Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches.
17932067 2007 Extent to which hairpin opening by the Artemis:DNA-PKcs complex can contribute to junctional diversity in V(D)J recombination.
17242184 2007 Artemis links ATM to G2/M checkpoint recovery via regulation of Cdk1-cyclin B.
17169382 2007 Role of Artemis in DSB repair and guarding chromosomal stability following exposure to ionizing radiation at different stages of cell cycle.
17121861 2007 Processing of 3'-phosphoglycolate-terminated DNA double strand breaks by Artemis nuclease.
16874298 2006 DNA-PK autophosphorylation facilitates Artemis endonuclease activity.
16857680 2006 Interplay between Ku, Artemis, and the DNA-dependent protein kinase catalytic subunit at DNA ends.
16600297 2006 Artemis phosphorylated by DNA-dependent protein kinase associates preferentially with discrete regions of chromatin.
16093244 2005 The DNA-dependent protein kinase catalytic subunit phosphorylation sites in human Artemis.
15936993 2005 The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps.
15811628 2005 Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression.
15731174 2005 Omenn syndrome due to ARTEMIS mutations.
15723659 2005 Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage.
15574327 2004 A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.
15574326 2004 A biochemically defined system for mammalian nonhomologous DNA end joining.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15468306 2004 Phosphorylation of Artemis following irradiation-induced DNA damage.
15456891 2004 Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
15071507 2004 Functional and biochemical dissection of the structure-specific nuclease ARTEMIS.
14744996 2004 The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination.
14726805 Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14628082 2003 Artemis, a novel guardian of the genome.
12921762 2003 Expansion of clonotype-restricted HLA-identical maternal CD4+ T cells in a patient with severe combined immunodeficiency and a homozygous mutation in the Artemis gene.
12592555 2003 Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families.
12569164 2003 Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12406895 2003 Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.
12177301 2002 Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family.
12055248 2002 A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans.
11955432 2002 Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination.
11336668 2001 Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.
11181991 2001 Human DNA repair genes.
9443881 1998 The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p.
7566098 1995 Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence.