Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5465
Gene name Gene Name - the full gene name approved by the HGNC.
Peroxisome proliferator activated receptor alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPARA
Synonyms (NCBI Gene) Gene synonyms aliases
NR1C1, PPAR, PPAR-alpha, PPARalpha, hPPAR
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.31
Summary Summary of gene provided in NCBI Entrez Gene.
Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1800206 C>G Risk-factor Coding sequence variant, non coding transcript variant, missense variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002473 hsa-miR-22-3p Western blot 18347104
MIRT002473 hsa-miR-22-3p Luciferase reporter assay 19011694
MIRT002473 hsa-miR-22-3p qRT-PCR, Luciferase reporter assay, Western blot 19011694
MIRT000630 hsa-miR-519d-3p Luciferase reporter assay, qRT-PCR, Western blot 20057369
MIRT005068 hsa-miR-10b-5p Luciferase reporter assay, qRT-PCR, Western blot 19780876
Transcription factors
Transcription factor Regulation Reference
CREBBP Unknown 10542237
HIF1A Unknown 14521756
HNF4A Unknown 11981036
JUN Unknown 10542237
NR2F2 Unknown 11981036
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9748239, 12700342
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 9748239
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
170998 9232 ENSG00000186951
Protein
UniProt ID Q07869
Protein name Peroxisome proliferator-activated receptor alpha (PPAR-alpha) (Nuclear receptor subfamily 1 group C member 1)
Protein function Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl-2-oleoyl-sn-glycerol-3-phosphocholine (16:0/18:1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regu
PDB 1I7G , 1K7L , 1KKQ , 2NPA , 2P54 , 2REW , 2ZNN , 3ET1 , 3FEI , 3G8I , 3KDT , 3KDU , 3SP6 , 3VI8 , 4BCR , 4CI4 , 5AZT , 5HYK , 6KAX , 6KAY , 6KAZ , 6KB0 , 6KB1 , 6KB2 , 6KB3 , 6KB4 , 6KB5 , 6KB6 , 6KB7 , 6KB8 , 6KB9 , 6KBA , 6KXX , 6KXY , 6KYP , 6L36 , 6L37 , 6L38 , 6L96 , 6LX4 , 6LX5 , 6LX6 , 6LX7 , 6LX8 , 6LX9 , 6LXA , 6LXB , 6LXC , 7BPY , 7BPZ , 7BQ0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4 100 168 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 264 449 Ligand-binding domain of nuclear hormone receptor Domain
Tissue specificity TISSUE SPECIFICITY: Skeletal muscle, liver, heart and kidney. Expressed in monocytes (PubMed:28167758). {ECO:0000269|PubMed:28167758, ECO:0000269|PubMed:7981125, ECO:0000269|PubMed:8993548}.
Sequence
MVDTESPLCPLSPLEAGDLESPLSEEFLQEMGNIQEISQSIGEDSSGSFGFTEYQYLGSC
PGSDGSVITDTLSPASSPSSVTYPVVPGSVDESPSGALNIECRICGDKASGYHYGVHACE
GCKGFFRRTIRLKLVYDKCDRSCKIQKKNRNKCQYCRFHKCLSVGMSH
NAIRFGRMPRSE
KAKLKAEILTCEHDIEDSETADLKSLAKRIYEAYLKNFNMNKVKARVILSGKASNNPPFV
IHDMETLCMAEKTLVAKLVANGIQNKEAEVRIFHCCQCTSVETVTELTEFAKAIPGFANL
DLNDQVTLLKYGVYEAIFAMLSSVMNKDGMLVAYGNGFITREFLKSLRKPFCDIMEPKFD
FAMKFNALELDDSDISLFVAAIICCGDRPGLLNVGHIEKMQEGIVHVLRLHLQSNHPDDI
FLFPKLLQKMADLRQLVTEHAQLVQIIKK
TESDAALHPLLQEIYRDMY
Sequence length 468
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  PPAR signaling pathway
cAMP signaling pathway
Adipocytokine signaling pathway
Glucagon signaling pathway
Insulin resistance
Non-alcoholic fatty liver disease
Alcoholic liver disease
Hepatitis C
Chemical carcinogenesis - receptor activation
Diabetic cardiomyopathy
  RORA activates gene expression
PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis
Activation of gene expression by SREBF (SREBP)
Transcriptional regulation of white adipocyte differentiation
Nuclear Receptor transcription pathway
Regulation of lipid metabolism by PPARalpha
Circadian Clock
SUMOylation of intracellular receptors
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Carcinoma Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 11137312
Dermatitis Dermatitis, Atopic rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 18249437
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
17317762
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075 21640707
Unknown
Disease term Disease name Evidence References Source
Crohn disease Crohn Disease, Regional enteritis 21829567 ClinVar
Ovarian cancer Ovarian cancer Conditional KD of IL6 in the OCCA xenograft model delays tumor growth GWAS, CBGDA
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Associate 35046108, 36533672
Acute Coronary Syndrome Associate 18855529, 20838448
Acute Kidney Injury Associate 31733829
Adenocarcinoma Inhibit 26617775
Adenocarcinoma of Lung Associate 26356813, 34446056, 35898471
Adrenal Cortex Diseases Associate 18652775
Adult onset citrullinemia type 2 Associate 25533124
Aggressive Periodontitis Associate 28883894
Alzheimer Disease Associate 19828088
Anodontia Associate 37426638