Property Summary

NCBI Gene PubMed Count 76
Grant Count 25
R01 Count 24
Funding $3,123,926
PubMed Score 45.38
PubTator Score 69.70

Knowledge Summary

Patent

No data available

Expression

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.
More...

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.
More...