PON1 (paraoxonase 1)

2007-02-01  

Identity

HGNC
LOCATION
7q21.3
LOCUSID
ALIAS
ESA,MVCD5,PON
FUSION GENES

Other Information

Locus ID:

NCBI: 5444
MIM: 168820
HGNC: 9204
Ensembl: ENSG00000005421

Variants:

dbSNP: 5444
ClinVar: 5444
TCGA: ENSG00000005421
COSMIC: PON1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005421ENST00000222381P27169
ENSG00000005421ENST00000433729F8WF42

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Arachidonic acid metabolismREACTOMER-HSA-2142753
Synthesis of 5-eicosatetraenoic acidsREACTOMER-HSA-2142688

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD
PA131285527oxaliplatinChemicalClinicalAnnotationassociatedPD
PA164713366Tumor necrosis factor alpha (TNF-alpha) inhibitorsChemicalClinicalAnnotationassociatedPD
PA443362Angina PectorisDiseaseClinicalAnnotationassociatedPD21170047, 21527445, 21685174, 21806387, 21819538, 21881565, 21918510, 21972404, 22028352, 22190063, 22285300, 22368149, 22374717, 22427735, 22462746, 22520065, 22624833, 22723959, 22940005, 22974728, 23150151, 23346768, 23418418, 23726091, 23993903, 24262617, 24504666, 24535487, 25329996
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD
PA443635Cardiovascular DiseasesDiseaseClinicalAnnotationassociatedPD21881565, 21972404, 22723959, 24262617
PA443796Coronary Artery DiseaseDiseaseClinicalAnnotationassociatedPD21170047, 21527445, 21685174, 21806387, 21819538, 21881565, 21918510, 21972404, 22028352, 22190063, 22285300, 22368149, 22374717, 22427735, 22462746, 22520065, 22624833, 22723959, 22940005, 22974728, 23150151, 23346768, 23418418, 23726091, 23993903, 24262617, 24504666, 24535487, 25329996
PA444516HypercholesterolemiaDiseaseClinicalAnnotationassociatedPD16238680, 18430057, 19904013
PA445019Myocardial InfarctionDiseaseClinicalAnnotationassociatedPD21170047, 21527445, 21685174, 21806387, 21819538, 21881565, 21918510, 21972404, 22028352, 22190063, 22285300, 22368149, 22374717, 22427735, 22462746, 22520065, 22624833, 22723959, 22940005, 22974728, 23150151, 23346768, 23418418, 23726091, 23993903, 24262617, 24504666, 24535487, 25329996
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA445742Stomach NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA445850ThrombosisDiseaseClinicalAnnotationassociatedPD21170047, 21527445, 21685174, 21806387, 21819538, 21881565, 21918510, 21972404, 22028352, 22190063, 22285300, 22368149, 22374717, 22427735, 22462746, 22520065, 22624833, 22723959, 22940005, 22974728, 23150151, 23346768, 23418418, 23726091, 23993903, 24262617, 24504666, 24535487, 25329996
PA446459Myocardial IschemiaDiseaseClinicalAnnotationassociatedPD21170047, 21527445, 21685174, 21806387, 21819538, 21881565, 21918510, 21972404, 22028352, 22190063, 22285300, 22368149, 22374717, 22427735, 22462746, 22520065, 22624833, 22723959, 22940005, 22974728, 23150151, 23346768, 23418418, 23726091, 23993903, 24262617, 24504666, 24535487, 25329996
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD16238680, 18430057, 19904013
PA449053clopidogrelChemicalClinicalAnnotation, MultilinkAnnotation, VariantAnnotationambiguousPD21170047, 21527445, 21685174, 21806387, 21819538, 21881565, 21918510, 21972404, 22028352, 22190063, 22285300, 22368149, 22374717, 22427735, 22462746, 22520065, 22624833, 22723959, 22940005, 22974728, 23150151, 23346768, 23418418, 23726091, 23993903, 24262617, 24504666, 24535487, 25329996
PA449476epirubicinChemicalClinicalAnnotationassociatedPD
PA451363simvastatinChemicalClinicalAnnotationassociatedPD16238680, 18430057, 19904013

References

Pubmed IDYearTitleCitations
157724232005Human paraoxonases (PON1, PON2, and PON3) are lactonases with overlapping and distinct substrate specificities.167
183490882008Relationship of paraoxonase 1 (PON1) gene polymorphisms and functional activity with systemic oxidative stress and cardiovascular risk.158
183490882008Relationship of paraoxonase 1 (PON1) gene polymorphisms and functional activity with systemic oxidative stress and cardiovascular risk.158
211700472011Paraoxonase-1 is a major determinant of clopidogrel efficacy.101
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
162134672005Butyrylcholinesterase, paraoxonase, and albumin esterase, but not carboxylesterase, are present in human plasma.84
239081112013Myeloperoxidase, paraoxonase-1, and HDL form a functional ternary complex.74
110738502000Paraoxonase (PON1) phenotype is a better predictor of vascular disease than is PON1(192) or PON1(55) genotype.72
127561582003Low paraoxonase activity predicts coronary events in the Caerphilly Prospective Study.71
150013262004Four paraoxonase gene polymorphisms in 11212 cases of coronary heart disease and 12786 controls: meta-analysis of 43 studies.69

Citation

Dessen P

PON1 (paraoxonase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43984/pon1