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The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate the expression of most genes involved in cellular energy production as well as in the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jun 2019]
ESRRA (Estrogen Related Receptor Alpha) is a Protein Coding gene. Diseases associated with ESRRA include Endometrial Cancer and Amelogenesis Imperfecta, Type Ig. Among its related pathways are Organelle biogenesis and maintenance and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ESRRB.
Estrogen controls many cellular processes including growth, differentiation and function of the reproductive system. Estrogen is also responsible for the growth and maintenance of the skeleton and the normal function of the cardiovascular and nervous systems.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA,TAS | 9286700 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0001650 | fibrillar center | IDA | -- |
GO:0005634 | nucleus | IEA,IDA | 21190936 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 21190936 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
2 | Mitochondrial Gene Expression | ||
3 | Gene Expression |
.48
|
|
4 | Metabolism |
.40
|
|
5 | Nuclear Receptor transcription pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA,IMP | 23836911 |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
GO:0007005 | mitochondrion organization | TAS | -- |
GO:0030278 | regulation of ossification | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Diethylstilbestrol | Approved, Investigational | Pharma | Agonist, Antagonist, Target | 7 | ||
Fulvestrant | Approved, Investigational | Pharma | Antagonist | Estrogen receptor antagonist,high affinity, Hormone therapy | 295 | |
flavone | Approved, Experimental | Pharma | Antagonist, Target, agonist | 0 | ||
Troglitazone | Approved, Investigational, Withdrawn | Pharma | Agonist, Full agonist, Channel blocker, Target, inverse agonist | Selective PPARγ agonist, Selective PPARgamma agonist; antidiabetic agent | 8 | |
Estradiol | Approved, Investigational, Vet_approved | Pharma | Sex hormone | 1113 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
5,7-dihydroxy-4'-methoxyisoflavone |
|
Agonist |
|
|||
7,4'-dihydroxyisoflavone |
|
Agonist, Activator |
|
|||
AC 186 |
|
1421854-16-1 |
|
|
||
beta-Estradiol |
|
50-28-2 |
|
|
||
ICI 182,780 |
|
129453-61-8 |
|
|
Compound | Action | Cas Number |
---|---|---|
AC 186 | Potent and selective ERbeta agonist; neuroprotective | 1421854-16-1 |
beta-Estradiol | Endogenous ER agonist | 50-28-2 |
ICI 182,780 | Estrogen receptor antagonist | 129453-61-8 |
PPT | Subtype-selective ERalpha agonist | 263717-53-9 |
Tamoxifen citrate | Estrogen receptor partial agonist/antagonist | 54965-24-1 |
Compound | Action | Cas Number |
---|---|---|
Altrenogest | 850-52-2 | |
Bazedoxifene HCl | 198480-56-7 | |
Clomiphene citrate | 50-41-9 | |
Equol | 531-95-3 | |
Estradiol | Sex hormone | 50-28-2 |
Estradiol Cypionate | 313-06-4 | |
Estriol | 50-27-1 | |
Estrone | Estrogenic hormone | 53-16-7 |
Ethinyl Estradiol | Oral contraceptive | 57-63-6 |
Ethisterone | Progestogen hormone | 434-03-7 |
Ethynodiol diacetate | 297-76-7 | |
Fulvestrant | Estrogen receptor antagonist,high affinity | 129453-61-8 |
Gestodene | 60282-87-3 | |
Hexestrol | 84-16-2 | |
Medroxyprogesterone acetate | Steroidal progestin | 71-58-9 |
Ospemifene | 128607-22-7 | |
Raloxifene HCl | Estrogen receptor (ER) | 82640-04-8 |
Tamoxifen Citrate | Antiestrogen drug | 54965-24-1 |
Toremifene Citrate | 89778-27-8 | |
XCT790 | ERRα agonist | 725247-18-7 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | - | - | |||||||||||||||||
SP4: | |||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | ESRRA 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | ESRRA 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Esrra 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ESRRA 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ESRRA 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.10209 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.12278 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | esrra 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | ERR 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
741919 | Benign: not provided | 64,315,119(+) | T/C | SYNONYMOUS_VARIANT | |
746573 | Likely Benign: not provided | 64,307,260(+) | G/A | SYNONYMOUS_VARIANT | |
789313 | Benign: not provided | 64,307,271(+) | C/T | MISSENSE_VARIANT | |
794487 | Likely Benign: not provided | 64,307,437(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
endometrial cancer |
|
|
amelogenesis imperfecta, type ig |
|
|
eating disorder |
|
|
teeth hard tissue disease |
|
|
3-methylglutaconic aciduria, type iii |
|
|