Gene Gene information from NCBI Gene database.
Entrez ID 5465
Gene name Peroxisome proliferator activated receptor alpha
Gene symbol PPARA
Synonyms (NCBI Gene)
NR1C1PPARPPAR-alphaPPARalphahPPAR
Chromosome 22
Chromosome location 22q13.31
Summary 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.
1
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.
860
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-PCRLuciferase reporter assayWestern blot 19011694
MIRT000630 hsa-miR-519d-3p Luciferase reporter assayqRT-PCRWestern blot 20057369
MIRT005068 hsa-miR-10b-5p Luciferase reporter assayqRT-PCRWestern blot 19780876
Transcription factors Transcription factors information provided by TRRUST V2 database.
9
Transcription factor Regulation Reference
CREBBP Unknown 10542237
HIF1A Unknown 14521756
HNF4A Unknown 11981036
JUN Unknown 10542237
NR2F2 Unknown 11981036
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
116
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
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
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 9748239
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
170998 9232 ENSG00000186951
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
54
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
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY CTD
★★☆☆☆
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
Abdominal obesity metabolic syndrome Metabolic Syndrome CTD_human_DG 15309680
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis LHGDN 15811118
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 18092840
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome LHGDN 18855529
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 20838448, 29659887
★☆☆☆☆
Found in Text Mining only
Acute Kidney Tubular Necrosis Renal tubular necrosis BEFREE 13680532
★☆☆☆☆
Found in Text Mining only
Acute Kidney Tubular Necrosis Renal tubular necrosis CTD_human_DG 19834340
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16403907
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 31354797
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 31154022
★☆☆☆☆
Found in Text Mining only