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Literature summary for 3.1.11.1 extracted from

  • Keijzers, G.; Bakula, D.; Petr, M.A.; Madsen, N.G.K.; Teklu, A.; Mkrtchyan, G.; Osborne, B.; Scheibye-Knudsen, M.
    Human exonuclease 1 (EXO1) regulatory functions in DNA replication with putative roles in cancer (2018), Int. J. Mol. Sci., 20, E74 .
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
A153V the mutation is associated with colorectal cancer and cancer of the small intestine Homo sapiens
E109K the mutation is associated with colorectal cancer Homo sapiens
E589K the mutation is associated with gastric cancer, lung cancer, hepatocellular carcinoma, melanoma, and glioblastoma Homo sapiens
E670G the mutation is associated with gastric cancer, breast cancer, oral cancer, lung cancer, melanoma, and glioblastoma Homo sapiens
N279S the mutation is associated with breast cancer and pancreatic cancer Homo sapiens
P757L the mutation is associated with colorectal cancer, pancreatic cancer, gastric cancer, breast cancer, oral cancer, lung cancer, and melanoma Homo sapiens
R723G/R723S the mutation is associated with gastric cancer, breast cancer, oral cancer, and lung cancer Homo sapiens
T439M the mutation is associated with colorectal cancer Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
DNA containing double Holliday junctions + H2O Homo sapiens
-
?
-
?
double stranded DNA containing mismatches + H2O Homo sapiens
-
?
-
?
gapped DNA containing mismatches + H2O Homo sapiens
-
?
-
?
additional information Homo sapiens the enzyme has 5'->3' exonuclease activity, as well as 5' structure specific DNA endonuclease activity and 5'->3' RNase H activity ?
-
?
nicked DNA containing mismatches + H2O Homo sapiens
-
?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9UQ84
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
DNA containing double Holliday junctions + H2O
-
Homo sapiens ?
-
?
double stranded DNA containing mismatches + H2O
-
Homo sapiens ?
-
?
gapped DNA containing mismatches + H2O
-
Homo sapiens ?
-
?
additional information the enzyme has 5'->3' exonuclease activity, as well as 5' structure specific DNA endonuclease activity and 5'->3' RNase H activity Homo sapiens ?
-
?
nicked DNA containing mismatches + H2O
-
Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
Exo1
-
Homo sapiens
exonuclease 1
-
Homo sapiens

General Information

General Information Comment Organism
malfunction a defect of the enzyme is associated with different types of cancers, including Lynch Syndrome, breast, ovarian, lung, pancreatic, and gastric tract cancer Homo sapiens
physiological function the enzyme contributes to checkpoint progression and to several DNA repair pathways involved in reducing DNA replication stress, for example, in mismatch repair, translesion DNA synthesis, nucleotide excision repair, double-strand break repair, and checkpoint activation to restart stalled DNA forks Homo sapiens