PPARA (peroxisome proliferator activated receptor alpha)

2003-08-01  

Identity

HGNC
LOCATION
22q13.31
LOCUSID
ALIAS
NR1C1,PPAR,PPAR-alpha,PPARalpha,hPPAR
FUSION GENES

Other Information

Locus ID:

NCBI: 5465
MIM: 170998
HGNC: 9232
Ensembl: ENSG00000186951

Variants:

dbSNP: 5465
ClinVar: 5465
TCGA: ENSG00000186951
COSMIC: PPARA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186951ENST00000262735Q07869
ENSG00000186951ENST00000262735F1D8S4
ENSG00000186951ENST00000402126Q07869
ENSG00000186951ENST00000402126F1D8S4
ENSG00000186951ENST00000407236Q07869
ENSG00000186951ENST00000407236F1D8S4
ENSG00000186951ENST00000415785B0QYX2
ENSG00000186951ENST00000420804B0QYX1
ENSG00000186951ENST00000440343Q86SF0

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
PPAR signaling pathwayKEGGko03320
Adipocytokine signaling pathwayKEGGko04920
PPAR signaling pathwayKEGGhsa03320
Adipocytokine signaling pathwayKEGGhsa04920
Hepatitis CKEGGko05160
Hepatitis CKEGGhsa05160
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Nuclear Receptor transcription pathwayREACTOMER-HSA-383280
YAP1- and WWTR1 (TAZ)-stimulated gene expressionREACTOMER-HSA-2032785
Circadian ClockREACTOMER-HSA-400253
BMAL1:CLOCK,NPAS2 activates circadian gene expressionREACTOMER-HSA-1368108
RORA activates gene expressionREACTOMER-HSA-1368082
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of white adipocyte differentiationREACTOMER-HSA-381340
Insulin resistanceKEGGhsa04931

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133888799Organ TransplantationDiseaseClinicalAnnotationassociatedPK24658827
PA162370415Metabolic SyndromeDiseaseVariantAnnotationnot associatedPD
PA164712535Beta Blocking AgentsChemicalClinicalAnnotationassociatedPD18855529
PA165817016Kidney TransplantationDiseaseClinicalAnnotationassociatedPD24113216, 29399716
PA443797Coronary DiseaseDiseaseClinicalAnnotationassociatedPD18855529
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPD15608561, 24853734
PA447216SchizophreniaDiseaseVariantAnnotationnot associatedPD
PA449061clozapineChemicalVariantAnnotationnot associatedPD
PA449594fenofibrateChemicalClinicalAnnotationassociatedPD15608561
PA450395metforminChemicalClinicalAnnotationassociatedPD24853734
PA450921phenprocoumonChemicalClinicalAnnotationassociatedPD25461249
PA451363simvastatinChemicalClinicalAnnotation, Literature, MultilinkAnnotationassociatedPD23252946, 23930676, 24598718
PA451578tacrolimusChemicalClinicalAnnotationassociatedPKPD24113216, 24658827, 29399716

References

Pubmed IDYearTitleCitations
204668842010Genetic evidence for high-altitude adaptation in Tibet.354
165115892006Sorting out the roles of PPAR alpha in energy metabolism and vascular homeostasis.234
154568812004Estrogen-related receptor alpha directs peroxisome proliferator-activated receptor alpha signaling in the transcriptional control of energy metabolism in cardiac and skeletal muscle.176
268740762016Elafibranor, an Agonist of the Peroxisome Proliferator-Activated Receptor-α and -δ, Induces Resolution of Nonalcoholic Steatohepatitis Without Fibrosis Worsening.165
186807162008The circulating metabolic regulator FGF21 is induced by prolonged fasting and PPARalpha activation in man.158
118452132002Structural basis for antagonist-mediated recruitment of nuclear co-repressors by PPARalpha.153
204144532010PPARalpha: energy combustion, hypolipidemia, inflammation and cancer.131
146338462003Endurance training in humans leads to fiber type-specific increases in levels of peroxisome proliferator-activated receptor-gamma coactivator-1 and peroxisome proliferator-activated receptor-alpha in skeletal muscle.126
210304262011Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas.119
197109292009Comparative analysis of gene regulation by the transcription factor PPARalpha between mouse and human.97

Citation

Dessen P

PPARA (peroxisome proliferator activated receptor alpha)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/41792/ppara