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Gene id 5444
Gene Summary     SNPs    Protein Summary    Gene ontology    Diseases    PubMed    

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 (95324705: 95297675)     Exons: 9     NC_000007.14
Gene summary(Entrez) This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL)
OMIM 168820

SNPs
rs662

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.95308134T>A
NC_000007.14   g.95308134T>C
NC_000007.14   g.95308134T>G
NC_000007.13   g.94937446T>A
NC_000007.13   g.94937446T>C
NC_000007.13   g.94937446T>G
NG_008779.2   g.21573A>T
NG_008779.2   g.21573A>G
NG_008779.2   g.21573A>C
NM_000446.7   c.575A>

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: Highly expressed in peripheral blood mononuclear cells. Detected at lower levels in bone marrow, thymus and lymph node, and at very low levels in colon and lung.

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

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

Gene ontology

Expand All | Collapse All
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

Diseases

Expand All | Collapse All
Associated diseases References
Astrocytoma GAD: 20723250
Cancer GAD: 20056567
Cancer (bladder) GAD: 19846948
Cancer (brain) GAD: 16142697
Cancer (colorectal) GAD: 15865106
Cancer (esophageal) GAD: 20453000
Cancer (glaucoma) GAD: 16411107
Cancer (head and neck) GAD: 20819778
Cancer (lung) GAD: 16323636
Cancer (lymphoma) GAD: 16985026
Cancer (myeloma) GAD: 15136237
Cancer (non-Hodgkin lymphoma) GAD: 12139735
Cancer (ovarian) GAD: 19454508
Cancer (prostate) GAD: 15538743
Cancer (breast) GAD: 17428620
Albuminuria GAD: 19357718
Coronary heart disease GAD: 12618290
Atherosclerosis GAD: 15993880
Aneurysm GAD: 18635682
Angina pectoris GAD: 16308493
Apoplexy GAD: 20532959
Atherosclerosis GAD: 12417809
Brain ischemia GAD: 19023099
Cardiovascular disease GAD: 11975906
Carotid artery diseases GAD: 15642273
Cerebral amyloid angiopathy (CAA) GAD: 11935033
Cerebral infarction GAD: 12824947
Cerebrovascular disease GAD: 11388660
Coronary heart disease OMIM: 19579917
Hypertension GAD: 16794478
Restenosis GAD: 12082592
Vascular disease GAD: 11073850
Hyperhomocysteinemia GAD: 18427977
Spinal dysraphism GAD: 21031563
Hyperandrogenism INFBASE: 23278234
Cleft defects GAD: 19048631
Liver disease GAD: 18977341
Diabetic retinopathy GAD: 12724690
Diabetic retinopathy KEGG: H01457
Glaucoma GAD: 16411107
Macular degeneration GAD: 15774926
Asthma GAD: 19575027
Rheumatoid arthritis GAD: 18615156
Multiple sclerosis GAD: 17463067
Systemic lupus erythematosus (SLE) GAD: 16729301
Crohn's disease GAD: 17436100
Metabolic syndrome GAD: 19056482
Obesity GAD: 19818126
Hyperglycemia GAD: 16629699
Diabetes GAD: 7564671
Insulin resistance GAD: 19421925
Hypercholesterolemia GAD: 16030523
Osteonecrosis GAD: 17469180
Bone diseases GAD: 12955589
Stroke GAD: 16239632
Amyotrophic lateral sclerosis (ALS) GAD: 16822965
Alzheimer's disease GAD: 19863653
Parkinson disease GAD: 16008163
Hearing Loss GAD: 15345661
Anxiety disorder GAD: 15060281
Schizophrenia GAD: 11880198
Psychological disorders GAD: 15016430
Autism GAD: 18624774
Dementia GAD: 15016430
Depression GAD: 17183021
Depression GAD: 19651761
Chronic renal failure GAD: 21085059
Kidney diseases GAD: 19602899
Abortion GAD: 21039385
Congenital adrenal hyperplasia GAD: 19039234
Polycystic ovary syndrome (PCOS) GAD: 16880229
Preeclampsia GAD: 16949193
Preterm birth risk GAD: 15232408
Female infertility INFBASE: 26605012
Polycystic ovary syndrome (PCOS) INFBASE: 25186501
Polycystic ovary syndrome (PCOS) INFBASE: 25117097
Unexplained infertility INFBASE: 25186501
Male factor infertility MIK: 25264968
Spermatogenesis defects MIK: 22206979
Chorioamnionitis GAD: 20452482
Congenital adrenal hyperplasia GAD: 19039234
Endometriosis INFBASE: 23799909
Connective tissue diseases GAD: 19527514
Microvascular complications of diabetes OMIM: 168820
Glomerulosclerosis GAD: 11096050
Nephropathy GAD: 16080611
Uremia GAD: 12790379
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Decrease sperm motility MIK: 21127310
Male infertility MIK: 21561808
Spermatogenetic defects MIK: 22206979
Teratozoospermia MIK: 17327269
Unexplained infertility MIK: 25753583

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25264968 Male infer
tility
 Q192R variants of PON1
300 (150 fertil
e, 150 infertil
e men )
 Male infertility
Show abstract
22985582 Male infer
tility
320 (270 infert
ile male patien
ts, 50 health f
ertile males (c
ontrol))
 Male infertility
Show abstract
22206979 Male infer
tility
 PON1 Arg192Glu (rs662), SOD2 Val16Ala (rs4880) Chinese
 1160 (580 infer
tility cases, 5
80 controls)
 Male infertility
Show abstract
21561808 Male infer
tility
 PON and GST genes (PON1-55/192, PON2-311, GSTM1/T1) Sloveni
an
 381 (187 infert
ile men (86 wit
h non-obstructi
ve azoospermia
(NOA) and 101 w
ith oligoasthen
oteratozoosperm
ia (OAT)), 194
fertile men)
 Male infertility PON1
GSTM
 Show abstract
21091978 Male subfe
rtility
93 (41 semen sa
mples from norm
al donors and i
n 52 semen samp
les and ten tes
ticle biopsies
from patients w
ith subfertilit
y)
 Male infertility PON1
PON2 and PON3
 Show abstract
18930907 Male subfe
rtility
90 (28 men with
idiopathic sub
fertility, 32 s
ubfertile men w
ith abnormal se
men parameters,
and 30 fertile
male volunteer
s)
 Male infertility PON-1
 Show abstract
22206979 Spermatoge
netic defe
cts, Male
infertilit
y
 PON1 Arg192Glu (rs662) or SOD2 Val16Ala (rs4880) Chinese
 1160 (580 infer
tility cases, 5
80 controls)
 Male infertility GPX1
CAT
PON1
NQO1
 SOD2/MnSOD
and SOD3
 Show abstract
21561808 Male infer
tility
 PON1-55/192, PON2-311, GSTM1/T1
381 (187 infert
ile men (86 wit
h non-obstructi
ve azoospermia
(NOA) and 101 w
ith oligoasthen
oteratozoosperm
ia (OAT)), 194
fertile men)
 Male infertility PON1
PON2
GSTM1
GSTT1
 Show abstract
21127310 Decrease s
perm motil
ity
 PON1 55M and PON1 192R
290 (120 oligos
permic and 170
normozoospermic
men)
 Male infertility
Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
25753583 Unexplaine
d infertil
ity
46 (17 fertile
men, 29 male pa
tients)
 Male infertility Microarray
 Show abstract