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Information on EC 3.6.1.72 - DNA-3'-diphospho-5'-guanosine diphosphatase and Organism(s) Homo sapiens and UniProt Accession Q7Z2E3

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IUBMB Comments
Aprataxin is a DNA-binding protein that catalyses (among other activities) the 3' decapping of DNA-ppG (formed by EC 6.5.1.8, 3'-phosphate/5'-hydroxy nucleic acid ligase) . The enzyme binds the guanylate group to a histidine residue at its active site, forming a covalent enzyme-nucleotide phosphate intermediate, followed by the hydrolysis of the guanylate from the nucleic acid and its eventual release. The enzyme also possesses the activity of EC 3.6.1.71, adenosine-5'-diphospho-5'-[DNA] diphosphatase, and EC 3.6.1.70, guanosine-5'-diphospho-5'-[DNA] diphosphatase.
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Homo sapiens
UNIPROT: Q7Z2E3
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The taxonomic range for the selected organisms is: Homo sapiens
The enzyme appears in selected viruses and cellular organisms
Reaction Schemes
[DNA]-3'-diphospho-5'-guanosine
+
=
[DNA]-3'-phosphate
+
Synonyms
aprataxin, APTX, DNA-3'pp5'G guanylate hydrolase, EC 3.1.12.2, HNT3, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
aprataxin
-
aprataxin
-
-
-
-
APTX
-
-
-
-
DNA-3'pp5'G guanylate hydrolase
-
-
-
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HNT3
-
-
-
-
SYSTEMATIC NAME
IUBMB Comments
[DNA]-3'-diphospho-5'-guanosine hydrolase (guanosine 5'-phosphate-forming)
Aprataxin is a DNA-binding protein that catalyses (among other activities) the 3' decapping of DNA-ppG (formed by EC 6.5.1.8, 3'-phosphate/5'-hydroxy nucleic acid ligase) [1]. The enzyme binds the guanylate group to a histidine residue at its active site, forming a covalent enzyme-nucleotide phosphate intermediate, followed by the hydrolysis of the guanylate from the nucleic acid and its eventual release. The enzyme also possesses the activity of EC 3.6.1.71, adenosine-5'-diphospho-5'-[DNA] diphosphatase, and EC 3.6.1.70, guanosine-5'-diphospho-5'-[DNA] diphosphatase.
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
-
UniProt
Manually annotated by BRENDA team
SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
SOURCE
primary skeletal muscle myoblast
Manually annotated by BRENDA team
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY hide
GeneOntology No.
LITERATURE
SOURCE
isoforms carrying a 42-nt N-terminal mitochondrial targeting sequence are localized to mitochondria
Manually annotated by BRENDA team
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
physiological function
depletion of aprataxin in human SHSY5Y neuroblastoma cells and primary skeletal muscle myoblasts results in mitochondrial dysfunction, revealed by reduced citrate synthase activity and mtDNA copy number. mtDNA, not nuclear DNA, has higher levels of background DNA damage on aprataxin knockdown
physiological function
-
APTX suppresses DNA-ligase 11-catalyzed ligation of 8oxoG-containing DNA. In presence of APTX, the catalytic commitment of DNA ligase 1 to erroneous ligation is reduced by 70 and 90%, respectively, for the 8oxoG:A and 8oxoG:C substrates
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
APTX_HUMAN
356
0
40740
Swiss-Prot
Mitochondrion (Reliability: 3), other Location (Reliability: 1)
SUBUNIT
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
?
x * 40000, SDS-PAGE
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
H260N
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catalytically inactive
APPLICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
medicine
in bone marrow of patients from a phase 2 study of the farnesyltransferase inhibitor tipifarnib in older adults with previously untreated acute myeloid leukemia, te RASGRP1/APTX gene expression ratio predicts response to tipifarnib with the greatest accuracy. RASGRP1 is a guanine nucleotide exchange factor that activates RAS, while APTX (aprataxin) is involved in DNA excision repair
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Raponi, M.; Lancet, J.E.; Fan, H.; Dossey, L.; Lee, G.; Gojo, I.; Feldman, E.J.; Gotlib, J.; Morris, L.E.; Greenberg, P.L.; Wright, J.J.; Harousseau, J.L.; Loewenberg, B.; Stone, R.M.; De Porre, P.; Wang, Y.; Karp, J.E.
A 2-gene classifier for predicting response to the farnesyltransferase inhibitor tipifarnib in acute myeloid leukemia
Blood
111
2589-2596
2008
Homo sapiens (Q7Z2E3)
Manually annotated by BRENDA team
Tumbale, P.; Jurkiw, T.; Schellenberg, M.; Riccio, A.; O'Brien, P.; Williams, R.
Two-tiered enforcement of high-fidelity DNA ligation
Nat. Commun.
10
5431
2019
Homo sapiens
Manually annotated by BRENDA team
Sykora, P.; Croteau, D.L.; Bohr, V.A.; Wilson, D.M.
Aprataxin localizes to mitochondria and preserves mitochondrial function
Proc. Natl. Acad. Sci. USA
108
7437-7442
2011
Homo sapiens (Q7Z2E3)
Manually annotated by BRENDA team