Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 5444
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol PON1   Gene   UCSC   Ensembl
Aliases ESA, MVCD5, PON
Gene name paraoxonase 1
Alternate names serum paraoxonase/arylesterase 1, A-esterase 1, K-45, PON 1, aromatic esterase 1, arylesterase 1, arylesterase B-type, esterase A, paraoxonase B-type, serum aryldiakylphosphatase, serum aryldialkylphosphatase 1,
Gene location 7q21.3 (95324571: 95298356)     Exons: 9     NC_000007.14
Gene summary(Entrez) The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008]
OMIM 168820

Protein Summary
Protein general information P27169  

Name: Serum paraoxonase/arylesterase 1 (PON 1) (EC 3.1.1.2) (EC 3.1.1.81) (EC 3.1.8.1) (Aromatic esterase 1) (A esterase 1) (K 45) (Serum aryldialkylphosphatase 1)

Length: 355  Mass: 39,731

Tissue specificity: Plasma, associated with HDL (at protein level). Expressed in liver, but not in heart, brain, placenta, lung, skeletal muscle, kidney or pancreas. {ECO

Sequence MAKLIALTLLGMGLALFRNHQSSYQTRLNALREVQPVELPNCNLVKGIETGSEDLEILPNGLAFISSGLKYPGIK
SFNPNSPGKILLMDLNEEDPTVLELGITGSKFDVSSFNPHGISTFTDEDNAMYLLVVNHPDAKSTVELFKFQEEE
KSLLHLKTIRHKLLPNLNDIVAVGPEHFYGTNDHYFLDPYLQSWEMYLGLAWSYVVYYSPSEVRVVAEGFDFANG
INISPDGKYVYIAELLAHKIHVYEKHANWTLTPLKSLDFNTLVDNISVDPETGDLWVGCHPNGMKIFFYDSENPP
ASEVLRIQNILTEEPKVTQVYAENGTVLQGSTVASVYKGKLLIGTVFHKALYCEL
Structural information
Interpro:  IPR011042 IPR002640 IPR008363

Pfam:  		 PF01731

PDB:  		 1V04 1XHR
PDBsum:   1V04 1XHR
STRING:   ENSP00000222381;
Other Databases GeneCards:  PON1;  Malacards:  PON1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004063 aryldialkylphosphatase ac
tivity
 IDA molecular_function
GO:0004063 aryldialkylphosphatase ac
tivity
 IDA molecular_function
GO:0004064 arylesterase activity
 IDA molecular_function
GO:0004064 arylesterase activity
 NAS molecular_function
GO:0004064 arylesterase activity
 IDA molecular_function
GO:0005509 calcium ion binding
 IDA molecular_function
GO:0005543 phospholipid binding
 IDA molecular_function
GO:0005576 extracellular region
 NAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0008203 cholesterol metabolic pro
cess
 IEA biological_process
GO:0009605 response to external stim
ulus
 NAS biological_process
GO:0009636 response to toxic substan
ce
 IBA biological_process
GO:0010875 positive regulation of ch
olesterol efflux
 IDA biological_process
GO:0016311 dephosphorylation
 IEA biological_process
GO:0019439 aromatic compound catabol
ic process
 IDA biological_process
GO:0031667 response to nutrient leve
ls
 IEA biological_process
GO:0032411 positive regulation of tr
ansporter activity
 IDA biological_process
GO:0034364 high-density lipoprotein
particle
 TAS cellular_component
GO:0034364 high-density lipoprotein
particle
 IDA cellular_component
GO:0034366 spherical high-density li
poprotein particle
 IDA cellular_component
GO:0042803 protein homodimerization
activity
 IDA molecular_function
GO:0043231 intracellular membrane-bo
unded organelle
 IEA cellular_component
GO:0046395 carboxylic acid catabolic
process
 IDA biological_process
GO:0046434 organophosphate catabolic
process
 IDA biological_process
GO:0046470 phosphatidylcholine metab
olic process
 IDA biological_process
GO:0051099 positive regulation of bi
nding
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070542 response to fatty acid
 IEA biological_process
GO:0072562 blood microparticle
 IDA cellular_component
GO:0102007 acyl-L-homoserine-lactone
lactonohydrolase activit
y
 IEA molecular_function
GO:1902617 response to fluoride
 IEA biological_process
GO:0034445 negative regulation of pl
asma lipoprotein particle
oxidation
 IDA biological_process
GO:0004063 aryldialkylphosphatase ac
tivity
 IEA molecular_function
GO:0004063 aryldialkylphosphatase ac
tivity
 IEA molecular_function
GO:0004063 aryldialkylphosphatase ac
tivity
 IDA molecular_function
GO:0004063 aryldialkylphosphatase ac
tivity
 IDA molecular_function
GO:0004064 arylesterase activity
 IEA molecular_function
GO:0004064 arylesterase activity
 IEA molecular_function
GO:0004064 arylesterase activity
 IEA molecular_function
GO:0004064 arylesterase activity
 IDA molecular_function
GO:0004064 arylesterase activity
 NAS molecular_function
GO:0004064 arylesterase activity
 IDA molecular_function
GO:0005509 calcium ion binding
 IDA molecular_function
GO:0005543 phospholipid binding
 IDA molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 NAS cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0006629 lipid metabolic process
 IEA biological_process
GO:0008203 cholesterol metabolic pro
cess
 IEA biological_process
GO:0009605 response to external stim
ulus
 NAS biological_process
GO:0009636 response to toxic substan
ce
 IEA biological_process
GO:0009636 response to toxic substan
ce
 IBA biological_process
GO:0010875 positive regulation of ch
olesterol efflux
 IDA biological_process
GO:0016311 dephosphorylation
 IEA biological_process
GO:0016787 hydrolase activity
 IEA molecular_function
GO:0019439 aromatic compound catabol
ic process
 IDA biological_process
GO:0031667 response to nutrient leve
ls
 IEA biological_process
GO:0032411 positive regulation of tr
ansporter activity
 IDA biological_process
GO:0034364 high-density lipoprotein
particle
 IEA cellular_component
GO:0034364 high-density lipoprotein
particle
 TAS cellular_component
GO:0034364 high-density lipoprotein
particle
 IDA cellular_component
GO:0034366 spherical high-density li
poprotein particle
 IDA cellular_component
GO:0042803 protein homodimerization
activity
 IDA molecular_function
GO:0043231 intracellular membrane-bo
unded organelle
 IEA cellular_component
GO:0046395 carboxylic acid catabolic
process
 IDA biological_process
GO:0046434 organophosphate catabolic
process
 IDA biological_process
GO:0046470 phosphatidylcholine metab
olic process
 IDA biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0051099 positive regulation of bi
nding
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070542 response to fatty acid
 IEA biological_process
GO:0072562 blood microparticle
 IDA cellular_component
GO:0102007 acyl-L-homoserine-lactone
lactonohydrolase activit
y
 IEA molecular_function
GO:1902617 response to fluoride
 IEA biological_process
GO:0034445 negative regulation of pl
asma lipoprotein particle
oxidation
 IDA biological_process
GO:0004063 aryldialkylphosphatase ac
tivity
 IDA molecular_function
GO:0004063 aryldialkylphosphatase ac
tivity
 IDA molecular_function
GO:0004064 arylesterase activity
 IDA molecular_function
GO:0004064 arylesterase activity
 NAS molecular_function
GO:0004064 arylesterase activity
 IDA molecular_function
GO:0005509 calcium ion binding
 IDA molecular_function
GO:0005543 phospholipid binding
 IDA molecular_function
GO:0005576 extracellular region
 NAS cellular_component
GO:0005615 extracellular space
 IDA cellular_component
GO:0009605 response to external stim
ulus
 NAS biological_process
GO:0009636 response to toxic substan
ce
 IBA biological_process
GO:0010875 positive regulation of ch
olesterol efflux
 IDA biological_process
GO:0019439 aromatic compound catabol
ic process
 IDA biological_process
GO:0032411 positive regulation of tr
ansporter activity
 IDA biological_process
GO:0034364 high-density lipoprotein
particle
 TAS cellular_component
GO:0034364 high-density lipoprotein
particle
 IDA cellular_component
GO:0034366 spherical high-density li
poprotein particle
 IDA cellular_component
GO:0042803 protein homodimerization
activity
 IDA molecular_function
GO:0046395 carboxylic acid catabolic
process
 IDA biological_process
GO:0046434 organophosphate catabolic
process
 IDA biological_process
GO:0046470 phosphatidylcholine metab
olic process
 IDA biological_process
GO:0051099 positive regulation of bi
nding
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0072562 blood microparticle
 IDA cellular_component
GO:0034445 negative regulation of pl
asma lipoprotein particle
oxidation
 IDA biological_process

KEGG pathways

hsa01100  Metabolic pathways

Diseases

Associated diseases References
Adrenal hyperplasia PMID: 19039234
Alzheimer's Disease PMID: 12566597
Amyotrophic lateral sclerosis (ALS) PMID: 20625960
Anxiety disorder PMID: 15060281
Asthma PMID: 19575027
Atherosclerosis PMID: 17560461
Autism PMID: 18624774
Brain cancer PMID: 16142697
Breast cancer PMID: 17428620
Cancer PMID: 20056567
Carotid artery diseases PMID: 12849920
Cleft lip PMID: 19048631
Coronary heart disease PMID: 11975906
Crohn's disease PMID: 17436100
Crohn's disease ulcerative colitis PMID: 17436100
Dementia PMID: 15016430
Depression PMID: 17183021
Diabetes OMIM: 168820
Diabetic retinopathy KEGG: H01457
Endometriosis PMID: 23799909
Female infertility PMID: 21127310
Glaucoma PMID: 16411107
Glomerulonephritis PMID: 16175651
Hearing loss PMID: 15345661
Hyperandrogenism PMID: 23278234
Hypercholesterolemia PMID: 16030523
Hyperglycemia hypertension PMID: 16629699
Hyperhomocysteinemia PMID: 18427977
Kidney disease PMID: 19602899
Liver disease PMID: 18977341
Lung cancer PMID: 16323636
Macular degeneration PMID: 15774926
Male infertility PMID: 25264968
Metabolic syndrome PMID: 19056482
multiple myeloma PMID: 15136237
Multiple sclerosis PMID: 17463067
Myocardial infarction PMID: 11341749
Nephropathy PMID: 16080611
Nephropathy in other diseases PMID: 16080611
non-Hodgkin's lymphoma PMID: 12139735
Endometriosis INFBASE18000171
Obesity PMID: 19818126
Osteonecrosis PMID: 17469180
Osteonecrosis PMID: 17469180
Ovarian cancer PMID: 19454508
Pancreatitis PMID: 16035730
Parkinson's disease PMID: 16008163
Polycystic ovary syndrome (PCOS) PMID: 28145863
Preeclampsia PMID: 16949193
Preterm delivery PMID: 15232408
Retinopathy PMID: 12724690
Rheumatoid arthritis PMID: 18615156
Rheumatoid arthritis PMID: 20198589
Schizophrenia PMID: 11880198
Spermatogenetic defects PMID: 22206979
Uremia PMID: 12790379

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23799909 Endometrio
sis
80 (33 mild end
ometriosis, 47
moderate/severe
endometriosis)
 Female infertility
Show abstract
18000171 Endometrio
sis
87 (40 control
patients, 24 mi
nimal to mild e
ndometriosis, 2
3 moderate to s
evere endometri
osis)
 PON-1
 Show abstract