Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 5465
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (46150533: 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 animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008]
OMIM 170998

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: 52,225

Tissue specificity: Skeletal muscle, liver, heart and kidney. {ECO

Sequence MVDTESPLCPLSPLEAGDLESPLSEEFLQEMGNIQEISQSIGEDSSGSFGFTEYQYLGSCPGSDGSVITDTLSPA
SSPSSVTYPVVPGSVDESPSGALNIECRICGDKASGYHYGVHACEGCKGFFRRTIRLKLVYDKCDRSCKIQKKNR
NKCQYCRFHKCLSVGMSHNAIRFGRMPRSEKAKLKAEILTCEHDIEDSETADLKSLAKRIYEAYLKNFNMNKVKA
RVILSGKASNNPPFVIHDMETLCMAEKTLVAKLVANGIQNKEAEVRIFHCCQCTSVETVTELTEFAKAIPGFANL
DLNDQVTLLKYGVYEAIFAMLSSVMNKDGMLVAYGNGFITREFLKSLRKPFCDIMEPKFDFAMKFNALELDDSDI
SLFVAAIICCGDRPGLLNVGHIEKMQEGIVHVLRLHLQSNHPDDIFLFPKLLQKMADLRQLVTEHAQLVQIIKKT
ESDAALHPLLQEIYRDMY
Structural information
Interpro:  IPR003074 IPR003076 IPR000536 IPR001723 IPR001628 IPR013088
Prosite:   PS00031 PS51030

Pfam:  
PF00104 PF00105

PDB:  
1I7G 1K7L 1KKQ 2NPA 2P54 2REW 2ZNN 3ET1 3FEI 3G8I 3KDT 3KDU 3SP6 3VI8 4BCR 4CI4 5AZT 5HYK
PDBsum:   1I7G 1K7L 1KKQ 2NPA 2P54 2REW 2ZNN 3ET1 3FEI 3G8I 3KDT 3KDU 3SP6 3VI8 4BCR 4CI4 5AZT 5HYK

DIP:  
241
MINT:   232229
STRING:   ENSP00000262735;
Other Databases GeneCards:  PPARA;  Malacards:  PPARA

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0001078 transcriptional repressor
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0001103 RNA polymerase II repress
ing transcription factor
binding
IPI molecular_function
GO:0001190 transcriptional activator
activity, RNA polymerase
II transcription factor
binding
IEA molecular_function
GO:0001223 transcription coactivator
binding
IEA molecular_function
GO:0001666 response to hypoxia
IEA biological_process
GO:0003677 DNA binding
TAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
ISS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0003707 steroid hormone receptor
activity
IDA molecular_function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
IDA molecular_function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
IDA 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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
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 pr
omoter
TAS biological_process
GO:0006629 lipid metabolic process
TAS biological_process
GO:0006629 lipid metabolic process
TAS biological_process
GO:0006631 fatty acid metabolic proc
ess
IEA biological_process
GO:0007507 heart development
IEA biological_process
GO:0008144 drug binding
IDA molecular_function
GO:0008144 drug binding
IDA molecular_function
GO:0008270 zinc ion binding
IEA molecular_function
GO:0008289 lipid binding
IDA molecular_function
GO:0008544 epidermis development
IEA biological_process
GO:0010745 negative regulation of ma
crophage derived foam cel
l differentiation
IC biological_process
GO:0010745 negative regulation of ma
crophage derived foam cel
l differentiation
IDA biological_process
GO:0010871 negative regulation of re
ceptor biosynthetic proce
ss
IDA biological_process
GO:0010887 negative regulation of ch
olesterol storage
IDA biological_process
GO:0010891 negative regulation of se
questering of triglycerid
e
IDA biological_process
GO:0015908 fatty acid transport
TAS biological_process
GO:0019902 phosphatase binding
IEA molecular_function
GO:0019904 protein domain specific b
inding
IEA molecular_function
GO:0030522 intracellular receptor si
gnaling pathway
IEA biological_process
GO:0031624 ubiquitin conjugating enz
yme binding
IPI molecular_function
GO:0032000 positive regulation of fa
tty acid beta-oxidation
TAS biological_process
GO:0032091 negative regulation of pr
otein binding
IEA biological_process
GO:0032099 negative regulation of ap
petite
ISS biological_process
GO:0032403 protein complex binding
IEA molecular_function
GO:0032868 response to insulin
IEA biological_process
GO:0032922 circadian regulation of g
ene expression
ISS biological_process
GO:0035095 behavioral response to ni
cotine
IEA biological_process
GO:0042060 wound healing
IEA biological_process
GO:0042157 lipoprotein metabolic pro
cess
IEA biological_process
GO:0042752 regulation of circadian r
hythm
ISS biological_process
GO:0043401 steroid hormone mediated
signaling pathway
IEA biological_process
GO:0043565 sequence-specific DNA bin
ding
ISS molecular_function
GO:0044255 cellular lipid metabolic
process
TAS biological_process
GO:0045722 positive regulation of gl
uconeogenesis
IEA biological_process
GO:0045776 negative regulation of bl
ood pressure
IEA biological_process
GO:0045820 negative regulation of gl
ycolytic process
IC biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046321 positive regulation of fa
tty acid oxidation
ISS biological_process
GO:0050728 negative regulation of in
flammatory response
IDA biological_process
GO:0051525 NFAT protein binding
IEA molecular_function
GO:0070166 enamel mineralization
IEA biological_process
GO:0072363 regulation of glycolytic
process by positive regul
ation of transcription fr
om RNA polymerase II prom
oter
IDA biological_process
GO:0072366 regulation of cellular ke
tone metabolic process by
positive regulation of t
ranscription from RNA pol
ymerase II promoter
IDA biological_process
GO:0072369 regulation of lipid trans
port by positive regulati
on of transcription from
RNA polymerase II promote
r
IDA biological_process
GO:0097371 MDM2/MDM4 family protein
binding
IEA molecular_function
GO:1901215 negative regulation of ne
uron death
IEA biological_process
GO:1902894 negative regulation of pr
i-miRNA transcription fro
m RNA polymerase II promo
ter
IDA biological_process
GO:1903038 negative regulation of le
ukocyte cell-cell adhesio
n
IDA biological_process
GO:2000678 negative regulation of tr
anscription regulatory re
gion DNA binding
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0001078 transcriptional repressor
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0001103 RNA polymerase II repress
ing transcription factor
binding
IPI molecular_function
GO:0001190 transcriptional activator
activity, RNA polymerase
II transcription factor
binding
IEA molecular_function
GO:0001223 transcription coactivator
binding
IEA molecular_function
GO:0001666 response to hypoxia
IEA biological_process
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
TAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
ISS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0003707 steroid hormone receptor
activity
IEA molecular_function
GO:0003707 steroid hormone receptor
activity
IDA molecular_function
GO:0004872 receptor activity
IEA molecular_function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
IEA molecular_function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
IEA molecular_function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
IDA molecular_function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
IDA 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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
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:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006366 transcription from RNA po
lymerase II promoter
IEA biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
TAS biological_process
GO:0006629 lipid metabolic process
TAS biological_process
GO:0006629 lipid metabolic process
TAS biological_process
GO:0006631 fatty acid metabolic proc
ess
IEA biological_process
GO:0006631 fatty acid metabolic proc
ess
TAS biological_process
GO:0007507 heart development
IEA biological_process
GO:0008144 drug binding
IDA molecular_function
GO:0008144 drug binding
IDA molecular_function
GO:0008270 zinc ion binding
IEA molecular_function
GO:0008289 lipid binding
IEA molecular_function
GO:0008289 lipid binding
IEA molecular_function
GO:0008289 lipid binding
IDA molecular_function
GO:0008544 epidermis development
IEA biological_process
GO:0010468 regulation of gene expres
sion
IEA biological_process
GO:0010745 negative regulation of ma
crophage derived foam cel
l differentiation
IC biological_process
GO:0010745 negative regulation of ma
crophage derived foam cel
l differentiation
IDA biological_process
GO:0010871 negative regulation of re
ceptor biosynthetic proce
ss
IDA biological_process
GO:0010887 negative regulation of ch
olesterol storage
IDA biological_process
GO:0010891 negative regulation of se
questering of triglycerid
e
IDA biological_process
GO:0015908 fatty acid transport
TAS biological_process
GO:0019217 regulation of fatty acid
metabolic process
IEA biological_process
GO:0019902 phosphatase binding
IEA molecular_function
GO:0019904 protein domain specific b
inding
IEA molecular_function
GO:0030522 intracellular receptor si
gnaling pathway
IEA biological_process
GO:0031624 ubiquitin conjugating enz
yme binding
IPI molecular_function
GO:0032000 positive regulation of fa
tty acid beta-oxidation
TAS biological_process
GO:0032091 negative regulation of pr
otein binding
IEA biological_process
GO:0032099 negative regulation of ap
petite
IEA biological_process
GO:0032099 negative regulation of ap
petite
ISS biological_process
GO:0032403 protein complex binding
IEA molecular_function
GO:0032868 response to insulin
IEA biological_process
GO:0032922 circadian regulation of g
ene expression
IEA biological_process
GO:0032922 circadian regulation of g
ene expression
ISS biological_process
GO:0035095 behavioral response to ni
cotine
IEA biological_process
GO:0042060 wound healing
IEA biological_process
GO:0042157 lipoprotein metabolic pro
cess
IEA biological_process
GO:0042752 regulation of circadian r
hythm
IEA biological_process
GO:0042752 regulation of circadian r
hythm
ISS biological_process
GO:0043401 steroid hormone mediated
signaling pathway
IEA biological_process
GO:0043565 sequence-specific DNA bin
ding
IEA molecular_function
GO:0043565 sequence-specific DNA bin
ding
IEA molecular_function
GO:0043565 sequence-specific DNA bin
ding
ISS molecular_function
GO:0044255 cellular lipid metabolic
process
TAS biological_process
GO:0045722 positive regulation of gl
uconeogenesis
IEA biological_process
GO:0045776 negative regulation of bl
ood pressure
IEA biological_process
GO:0045820 negative regulation of gl
ycolytic process
IC biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046321 positive regulation of fa
tty acid oxidation
IEA biological_process
GO:0046321 positive regulation of fa
tty acid oxidation
ISS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048511 rhythmic process
IEA biological_process
GO:0050728 negative regulation of in
flammatory response
IDA biological_process
GO:0051525 NFAT protein binding
IEA molecular_function
GO:0070166 enamel mineralization
IEA biological_process
GO:0072363 regulation of glycolytic
process by positive regul
ation of transcription fr
om RNA polymerase II prom
oter
IDA biological_process
GO:0072366 regulation of cellular ke
tone metabolic process by
positive regulation of t
ranscription from RNA pol
ymerase II promoter
IDA biological_process
GO:0072369 regulation of lipid trans
port by positive regulati
on of transcription from
RNA polymerase II promote
r
IDA biological_process
GO:0097371 MDM2/MDM4 family protein
binding
IEA molecular_function
GO:1901215 negative regulation of ne
uron death
IEA biological_process
GO:1902894 negative regulation of pr
i-miRNA transcription fro
m RNA polymerase II promo
ter
IDA biological_process
GO:1903038 negative regulation of le
ukocyte cell-cell adhesio
n
IDA biological_process
GO:2000678 negative regulation of tr
anscription regulatory re
gion DNA binding
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0001078 transcriptional repressor
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0001103 RNA polymerase II repress
ing transcription factor
binding
IPI molecular_function
GO:0003677 DNA binding
TAS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
ISS molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IDA molecular_function
GO:0003707 steroid hormone receptor
activity
IDA molecular_function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
IDA molecular_function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
IDA 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:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
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 pr
omoter
TAS biological_process
GO:0006629 lipid metabolic process
TAS biological_process
GO:0006629 lipid metabolic process
TAS biological_process
GO:0006631 fatty acid metabolic proc
ess
TAS biological_process
GO:0008144 drug binding
IDA molecular_function
GO:0008144 drug binding
IDA molecular_function
GO:0008289 lipid binding
IDA molecular_function
GO:0010745 negative regulation of ma
crophage derived foam cel
l differentiation
IC biological_process
GO:0010745 negative regulation of ma
crophage derived foam cel
l differentiation
IDA biological_process
GO:0010871 negative regulation of re
ceptor biosynthetic proce
ss
IDA biological_process
GO:0010887 negative regulation of ch
olesterol storage
IDA biological_process
GO:0010891 negative regulation of se
questering of triglycerid
e
IDA biological_process
GO:0015908 fatty acid transport
TAS biological_process
GO:0031624 ubiquitin conjugating enz
yme binding
IPI molecular_function
GO:0032000 positive regulation of fa
tty acid beta-oxidation
TAS biological_process
GO:0032099 negative regulation of ap
petite
ISS biological_process
GO:0032922 circadian regulation of g
ene expression
ISS biological_process
GO:0042752 regulation of circadian r
hythm
ISS biological_process
GO:0043565 sequence-specific DNA bin
ding
ISS molecular_function
GO:0044255 cellular lipid metabolic
process
TAS biological_process
GO:0045820 negative regulation of gl
ycolytic process
IC biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046321 positive regulation of fa
tty acid oxidation
ISS biological_process
GO:0050728 negative regulation of in
flammatory response
IDA biological_process
GO:0072363 regulation of glycolytic
process by positive regul
ation of transcription fr
om RNA polymerase II prom
oter
IDA biological_process
GO:0072366 regulation of cellular ke
tone metabolic process by
positive regulation of t
ranscription from RNA pol
ymerase II promoter
IDA biological_process
GO:0072369 regulation of lipid trans
port by positive regulati
on of transcription from
RNA polymerase II promote
r
IDA biological_process
GO:1902894 negative regulation of pr
i-miRNA transcription fro
m RNA polymerase II promo
ter
IDA biological_process
GO:1903038 negative regulation of le
ukocyte cell-cell adhesio
n
IDA biological_process

KEGG pathways

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

Diseases

Associated diseases References
Alzheimer's disease PMID: 12938026
Cancer PMID: 18398047
Coronary heart disease PMID: 11119019
Endometriosis PMID: 11443174
Glomerulonephritis PMID: 19420105
Hyperapobetalipoproteinemia OMIM: 170998
Hyperlipidemia PMID: 12468272
Hypertriglyceridemia PMID: 16630553
Metabolic syndrome PMID: 15309680
Multiple sclerosis PMID: 18977277
Endometriosis INFBASE11443174
Obesity PMID: 12855749
Polycystic ovary syndrome (PCOS) PMID: 19681917
Psoriasis PMID: 15083308
Wegener granulomatosis PMID: 19223982

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
11443174 Endometrio
sis


PPAR-alpha
PPAR-gamma
Show abstract