ENSG00000005421


Homo sapiens

Features
Gene ID: ENSG00000005421
  
Biological name :PON1
  
Synonyms : P27169 / paraoxonase 1 / PON1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q21.3
Gene start: 95297676
Gene end: 95324707
  
Corresponding Affymetrix probe sets: 206344_at (Human Genome U133 Plus 2.0 Array)   206345_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000222381
Ensembl peptide - ENSP00000407359
NCBI entrez gene - 5444     See in Manteia.
OMIM - 168820
RefSeq - NM_000446
RefSeq Peptide - NP_000437
swissprot - P27169
swissprot - F8WF42
Ensembl - ENSG00000005421
  
Related genetic diseases (OMIM): 168820 - {Coronary artery disease, susceptibility to}
  612633 - {Microvascular complications of diabetes 5}, 612633
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pon1ENSDARG00000032496Danio rerio
 pon2ENSDARG00000016856Danio rerio
 pon3.2ENSDARG00000097789Danio rerio
 pon3.2ENSDARG00000040290Danio rerio
 PON2ENSGALG00000009689Gallus gallus
 Pon1ENSMUSG00000002588Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PON2 / Q15165 / paraoxonase 2ENSG0000010585466
PON3 / Q15166 / paraoxonase 3ENSG0000010585261


Protein motifs (from Interpro)
Interpro ID Name
 IPR002640  Arylesterase
 IPR008363  Paraoxonase1
 IPR011042  Six-bladed beta-propeller, TolB-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0010875 positive regulation of cholesterol efflux IDA
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0019372 lipoxygenase pathway TAS
 biological_processGO:0019439 aromatic compound catabolic process IDA
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0032411 positive regulation of transporter activity IDA
 biological_processGO:0046395 carboxylic acid catabolic process IDA
 biological_processGO:0046434 organophosphate catabolic process IDA
 biological_processGO:0046470 phosphatidylcholine metabolic process IDA
 biological_processGO:0051099 positive regulation of binding IDA
 biological_processGO:0070542 response to fatty acid IEA
 biological_processGO:1902617 response to fluoride IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0034364 high-density lipoprotein particle TAS
 cellular_componentGO:0034366 spherical high-density lipoprotein particle IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0004063 aryldialkylphosphatase activity IEA
 molecular_functionGO:0004064 arylesterase activity IEA
 molecular_functionGO:0005509 calcium ion binding IDA
 molecular_functionGO:0005543 phospholipid binding IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0102007 acyl-L-homoserine-lactone lactonohydrolase activity TAS


Pathways (from Reactome)
Pathway description
Synthesis of 5-eicosatetraenoic acids


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000217 Xerostomia "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators]
Show

 HP:0000712 Emotional lability 
Show

 HP:0000713 Agitation 
Show

 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
Show

 HP:0000739 Anxiety 
Show

 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
Show

 HP:0002017 Nausea and vomiting 
Show

 HP:0002094 Dyspnea 
Show

 HP:0002180 Neurodegeneration 
Show

 HP:0002878 Early respiratory failure 
Show

 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
Show

 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
Show

 HP:0003394 Muscle cramps 
Show

 HP:0003470 Paralysis "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators]
Show

 HP:0005945 Laryngeal obstruction 
Show

 HP:0007354 Amyotrophic lateral sclerosis 
Show

 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
Show

 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
Show

 HP:0030195 Fatigable weakness of swallowing muscles "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller]
Show

 HP:0030196 Fatigable weakness of respiratory muscles "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000005421 PON1 / P27169 / paraoxonase 1  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr