Gene Gene information from NCBI Gene database.
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
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
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
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
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.
MIM HGNC e!Ensembl
168820 9204 ENSG00000005421
Protein Protein information from UniProt database.
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
LAHKIHVYEKHAN
WTLTPLKSLDFNTLVDNISVDPETGDLWVGCHPNGMKIFFYDSENPP
ASEVLRIQNILTEEPKVTQVYAENGTVLQGSTVASVYKGKLLIGTVFHKALYCEL
Sequence length 355
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of 5-eicosatetraenoic acids
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
86
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis Uncertain significance ClinVar
CTD, Disgenet, GWAS catalog, Orphanet
CTD, Disgenet, GWAS catalog, Orphanet
CTD, Disgenet, GWAS catalog, Orphanet
CTD, Disgenet, GWAS catalog, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 19269283, 22008470, 22368149, 25218815, 26241956, 28855433, 31772608
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 26241956
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 30588185, 30914000
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 28467805
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 21813394
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 15488805, 20042177, 22030834, 22956172, 23538572, 27693409
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 29063603
★☆☆☆☆
Found in Text Mining only
Alport Syndrome, X-Linked Alport Syndrome, X-Linked BEFREE 12196500
★☆☆☆☆
Found in Text Mining only
Alveolar pyorrhea Marginal periodontitis CTD_human_DG 19003935
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 20980077, 23821382, 24965284, 30172926, 33935094, 35887259 Associate
★☆☆☆☆
Found in Text Mining only