PON1 (paraoxonase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5444
Gene name Paraoxonase 1
Gene symbol PON1
Synonyms (NCBI Gene)
ESAMVCD5PON
Chromosome 7
Chromosome location 7q21.3
Summary 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)
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs662 T>A,C,G Association, risk-factor Missense variant, coding sequence variant
rs854560 A>C,G,N,T Association, risk-factor Missense variant, coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
125
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT007325 hsa-miR-616-3p Luciferase reporter assay 23497787
MIRT007325 hsa-miR-616-3p Luciferase reporter assay 23497787
MIRT540919 hsa-miR-4797-5p PAR-CLIP 21572407
MIRT540918 hsa-miR-508-5p PAR-CLIP 21572407
MIRT540916 hsa-miR-5586-3p PAR-CLIP 21572407
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
SP1 Activation 15380450
SREBF2 Activation 20728021
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004063 Function Aryldialkylphosphatase activity IBA
GO:0004063 Function Aryldialkylphosphatase activity IDA 7638166, 15098021
GO:0004063 Function Aryldialkylphosphatase activity IEA
GO:0004064 Function Arylesterase activity IBA
GO:0004064 Function Arylesterase activity IDA 7638166, 15098021
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
168820 9204 ENSG00000005421
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27169
Protein 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)
Protein function Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection
PDB 1V04
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01731 Arylesterase 168 → 253 Arylesterase Family
Tissue specificity 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:0000269|PubMed:8292612, ECO:0000269|PubMed:8382160}.
Sequence 
MAKLIALTLLGMGLALFRNHQSSYQTRLNALREVQPVELPNCNLVKGIETGSEDLEILPN
GLAFISSGLKYPGIKSFNPNSPGKILLMDLNEEDPTVLELGITGSKFDVSSFNPHGISTF
TDEDNAMYLLVVNHPDAKSTVELFKFQEEEKSLLHLKTIRHKLLPNLNDIVAVGPEHFYG
TNDHYFLDPYLQSWEMYLGLAWSYVVYYSPSEVRVVAEGFDFANGINISPDGKYVYIAEL
LAHKIHVYEKHANWTLTPLKSLDFNTLVDNISVDPETGDLWVGCHPNGMKIFFYDSENPP
ASEVLRIQNILTEEPKVTQVYAENGTVLQGSTVASVYKGKLLIGTVFHKALYCEL
Sequence length 355
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Synthesis of 5-eicosatetraenoic acids
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyotrophic lateral sclerosis Uncertain significance rs755475189 RCV001095522
Cervical cancer Likely benign rs144390653 RCV005927503
Enzyme activity finding Benign rs662, rs854560, rs705379 RCV000133464
RCV000133465
RCV000133466
Hepatocellular carcinoma Benign; Likely benign rs854559, rs144390653 RCV005916930
RCV005927501
Show/Hide Text Mining Associations (206)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 26241956
Acute Coronary Syndrome Associate 22008470, 23418418, 26241956, 31772608
Acute Coronary Syndrome Inhibit 23382833, 24736723
Adenocarcinoma Associate 30097534
Adenomatous Polyps Stimulate 19010307
Airway Remodeling Associate 36138190
Albuminuria Associate 19357718, 31092010
Alzheimer Disease Associate 20980077, 23821382, 24965284, 30172926, 33935094, 35887259
Amyotrophic Lateral Sclerosis Associate 17702780, 18313024, 18618303, 20582942, 30172926
Amyotrophic lateral sclerosis 1 Associate 20582942