PON1 (paraoxonase 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5444
Gene name Gene Name - the full gene name approved by the HGNC.
Paraoxonase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PON1
Synonyms (NCBI Gene) Gene synonyms aliases
ESA, MVCD5, PON
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(125)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
SP1 Activation 15380450
SREBF2 Activation 20728021
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(37)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
168820 9204 ENSG00000005421
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis N/A N/A ClinVar, GenCC
Dermatitis Atopic dermatitis (moderate to severe) N/A N/A GWAS
Show/Hide Text Mining Associations (206)
Associations from Text Mining Disease 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