• Gene id: 5465

Gene Summary

• Gene Symbol: PPARA   Gene   UCSC   Ensembl
• Aliases: NR1C1, PPAR, PPARalpha, hPPAR
• Gene name: peroxisome proliferator activated receptor alpha
• Alternate names: peroxisome proliferator-activated receptor alpha, PPAR-alpha, nuclear receptor subfamily 1 group C member 1, peroxisome proliferative activated receptor, alpha, peroxisome proliferator-activated nuclear receptor alpha variant 3,
• Gene location: 22q13.31 (46150525: 46243755)     Exons: 14     NC_000022.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q07869  
  • Name: Peroxisome proliferator activated receptor alpha (PPAR alpha) (Nuclear receptor subfamily 1 group C member 1)
  • Length: 468  
  • Mass: 52225
  • Tissue specificity: Skeletal muscle, liver, heart and kidney. Expressed in monocytes (PubMed
• Sequence:

  MVDTESPLCPLSPLEAGDLESPLSEEFLQEMGNIQEISQSIGEDSSGSFGFTEYQYLGSCPGSDGSVITDTLSPA
  SSPSSVTYPVVPGSVDESPSGALNIECRICGDKASGYHYGVHACEGCKGFFRRTIRLKLVYDKCDRSCKIQKKNR
  NKCQYCRFHKCLSVGMSHNAIRFGRMPRSEKAKLKAEILTCEHDIEDSETADLKSLAKRIYEAYLKNFNMNKVKA
  RVILSGKASNNPPFVIHDMETLCMAEKTLVAKLVANGIQNKEAEVRIFHCCQCTSVETVTELTEFAKAIPGFANL
  DLNDQVTLLKYGVYEAIFAMLSSVMNKDGMLVAYGNGFITREFLKSLRKPFCDIMEPKFDFAMKFNALELDDSDI
  SLFVAAIICCGDRPGLLNVGHIEKMQEGIVHVLRLHLQSNHPDDIFLFPKLLQKMADLRQLVTEHAQLVQIIKKT
  ESDAALHPLLQEIYRDMY

• Structural information:
  • Protein Domains: (239..46-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR003074  IPR035500  IPR000536  IPR001723  IPR003076   IPR001628  IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1I7G 1K7L 1KKQ 2NPA 2P54 2REW 2ZNN 3ET1 3FEI 3G8I 3KDT 3KDU 3SP6 3VI8 4BCR 4CI4 5AZT 5HYK 6L96
  • PDBsum: 1I7G 1K7L 1KKQ 2NPA 2P54 2REW 2ZNN 3ET1 3FEI 3G8I 3KDT 3KDU 3SP6 3VI8 4BCR 4CI4 5AZT 5HYK 6L96
  • DIP: 241
  • STRING: ENSP00000385523
• Other Databases: GeneCards:  PPARA  Malacards:  PPARA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009267	cellular response to starvation	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0004879	nuclear receptor activity	IBA	molecular function
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0019216	regulation of lipid metabolic process	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0033993	response to lipid	IBA	biological process
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0090575	RNA polymerase II transcription regulator complex	IBA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001103	RNA polymerase II repressing transcription factor binding	IBA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0006631	fatty acid metabolic process	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0010887	negative regulation of cholesterol storage	IBA	biological process
GO:0045923	positive regulation of fatty acid metabolic process	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0050728	negative regulation of inflammatory response	IBA	biological process
GO:0008289	lipid binding	IDA	molecular function
GO:0004879	nuclear receptor activity	IDA	molecular function
GO:0008144	drug binding	IDA	molecular function
GO:0032099	negative regulation of appetite	ISS	biological process
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0004879	nuclear receptor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0006629	lipid metabolic process	TAS	biological process
GO:0006631	fatty acid metabolic process	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:0051525	NFAT protein binding	IEA	molecular function
GO:0045776	negative regulation of blood pressure	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042157	lipoprotein metabolic process	IEA	biological process
GO:0035095	behavioral response to nicotine	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0032091	negative regulation of protein binding	IEA	biological process
GO:0004879	nuclear receptor activity	IEA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0046321	positive regulation of fatty acid oxidation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045722	positive regulation of gluconeogenesis	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042060	wound healing	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0032099	negative regulation of appetite	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0097371	MDM2/MDM4 family protein binding	IEA	molecular function
GO:0061052	negative regulation of cell growth involved in cardiac muscle cell development	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0019902	phosphatase binding	IEA	molecular function
GO:0007507	heart development	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001223	transcription coactivator binding	IEA	molecular function
GO:0070166	enamel mineralization	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0008144	drug binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003707	steroid hormone receptor activity	IDA	molecular function
GO:0004879	nuclear receptor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:1903038	negative regulation of leukocyte cell-cell adhesion	IDA	biological process
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
GO:0031624	ubiquitin conjugating enzyme binding	IPI	molecular function
GO:0050728	negative regulation of inflammatory response	IDA	biological process
GO:1902894	negative regulation of pri-miRNA transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0010871	negative regulation of receptor biosynthetic process	IDA	biological process
GO:0010887	negative regulation of cholesterol storage	IDA	biological process
GO:0010891	negative regulation of sequestering of triglyceride	IDA	biological process
GO:0045820	negative regulation of glycolytic process	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0010565	regulation of cellular ketone metabolic process	IDA	biological process
GO:0010745	negative regulation of macrophage derived foam cell differentiation	IC	biological process
GO:0010745	negative regulation of macrophage derived foam cell differentiation	IDA	biological process
GO:0019217	regulation of fatty acid metabolic process	IDA	biological process
GO:0046321	positive regulation of fatty acid oxidation	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0032000	positive regulation of fatty acid beta-oxidation	TAS	biological process
GO:0015908	fatty acid transport	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04932	Non-alcoholic fatty liver disease
hsa05160	Hepatitis C
hsa04922	Glucagon signaling pathway
hsa04931	Insulin resistance
hsa03320	PPAR signaling pathway
hsa04920	Adipocytokine signaling pathway

Diseases

Associated diseases	References
Alzheimer's disease	PMID:12938026
Cystic fibrosis	PMID:16875506
Lipid metabolism disorder	PMID:10828087
Coronary artery disease	PMID:16043164
Myocardial infarction	PMID:18549840
hepatocellular carcinoma	PMID:19119483
Fatty liver disease	PMID:16393287
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq