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Aliases for ESRRA Gene

Aliases for ESRRA Gene

  • Estrogen Related Receptor Alpha 2 3
  • Estrogen-Related Receptor Alpha 3 4 5
  • Nuclear Receptor Subfamily 3 Group B Member 1 3 4
  • Estrogen Receptor-Like 1 3 4
  • ERR-Alpha 3 4
  • ESRL1 3 4
  • NR3B1 3 4
  • ERR1 3 4
  • Estrogen-Related Nuclear Receptor Alpha 3
  • ERRalpha 3
  • ERRa 3

External Ids for ESRRA Gene

Previous HGNC Symbols for ESRRA Gene

  • ESRL1

Previous GeneCards Identifiers for ESRRA Gene

  • GC11P066588
  • GC11P065754
  • GC11P064323
  • GC11P063848
  • GC11P063829
  • GC11P064073
  • GC11P060400

Summaries for ESRRA Gene

Entrez Gene Summary for ESRRA Gene

  • The protein encoded by this gene is a nuclear receptor that is closely related to the estrogen receptor. This protein acts as a site-specific transcription regulator and has been also shown to interact with estrogen and the transcripton factor TFIIB by direct protein-protein contact. The binding and regulatory activities of this protein have been demonstrated in the regulation of a variety of genes including lactoferrin, osteopontin, medium-chain acyl coenzyme A dehydrogenase (MCAD) and thyroid hormone receptor genes. A processed pseudogene of ESRRA is located on chromosome 13q12.1. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

GeneCards Summary for ESRRA Gene

ESRRA (Estrogen Related Receptor Alpha) is a Protein Coding gene. Diseases associated with ESRRA include estrogen-receptor negative breast cancer and vaginal discharge. Among its related pathways are Gene Expression and Metabolism. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is AR.

UniProtKB/Swiss-Prot for ESRRA Gene

  • Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5-TNAAGGTCA-3. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires dimerization and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of energy metabolism. Induces the expression of PERM1 in the skeletal muscle.

Tocris Summary for ESRRA Gene

  • 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.

Gene Wiki entry for ESRRA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESRRA Gene

Genomics for ESRRA Gene

Regulatory Elements for ESRRA Gene

Promoters for ESRRA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ESRRA on UCSC Golden Path with GeneCards custom track

Genomic Location for ESRRA Gene

Chromosome:
11
Start:
64,305,528 bp from pter
End:
64,316,743 bp from pter
Size:
11,216 bases
Orientation:
Plus strand

Genomic View for ESRRA Gene

Genes around ESRRA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESRRA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESRRA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESRRA Gene

Proteins for ESRRA Gene

  • Protein details for ESRRA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11474-ERR1_HUMAN
    Recommended name:
    Steroid hormone receptor ERR1
    Protein Accession:
    P11474
    Secondary Accessions:
    • Q14514

    Protein attributes for ESRRA Gene

    Size:
    423 amino acids
    Molecular mass:
    45510 Da
    Quaternary structure:
    • Binds DNA as a monomer or a homodimer. Interacts (via the AF2 domain) with coactivator PPARGC1A (via the L3 motif); the interaction greatly enhances transcriptional activity of genes involved in energy metabolism. Interacts with PIAS4; the interaction enhances sumoylation.
    SequenceCaution:
    • Sequence=AAB17015.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA35778.1; Type=Frameshift; Positions=345, 354; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ESRRA Gene

    Alternative splice isoforms for ESRRA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESRRA Gene

Proteomics data for ESRRA Gene at MOPED

Post-translational modifications for ESRRA Gene

  • Phosphorylation on Ser-19 enhances sumoylation on Lys-14 increasing repression of transcriptional activity.
  • Reversibly acetylated. Acetylation by PCAF/KAT2 at Lys-129, Lys-138, Lys-160 and Lys-162 and PCAF/KAT2 decreases transcriptional activity probably by inhibiting DNA-binding activity; deacetylation involves SIRT1 and HDAC8 and increases DNA-binding.
  • Sumoylated with SUMO2. Main site is Lys-14 which is enhanced by phosphorylation on Ser-19, cofactor activation, and by interaction with PIAS4. Sumoylation enhances repression of transcriptional activity, but has no effect on subcellular location nor on DNA binding.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for ESRRA (ERR alpha/NR3B1)
  • Cell Signaling Technology (CST) Antibodies for ESRRA (ERR1)

No data available for DME Specific Peptides for ESRRA Gene

Domains & Families for ESRRA Gene

Gene Families for ESRRA Gene

Graphical View of Domain Structure for InterPro Entry

P11474

UniProtKB/Swiss-Prot:

ERR1_HUMAN :
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
genes like me logo Genes that share domains with ESRRA: view

Function for ESRRA Gene

Molecular function for ESRRA Gene

GENATLAS Biochemistry:
estrogen-related receptor A,orphan receptors family,steroid/thyroid hormone receptor superfamily,involved in the expression of SV40 major late promoter modulator of ESR response of lactoferrin promoter,regulator of medium chain acyl CoA dehydrogenase
UniProtKB/Swiss-Prot Function:
Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5-TNAAGGTCA-3. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires dimerization and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of energy metabolism. Induces the expression of PERM1 in the skeletal muscle.
UniProtKB/Swiss-Prot Induction:
Induced by PGC1alpha in a number of specific cell types including heart, kidney and muscle.

Gene Ontology (GO) - Molecular Function for ESRRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18331830
genes like me logo Genes that share ontologies with ESRRA: view
genes like me logo Genes that share phenotypes with ESRRA: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ESRRA
Targeted motifs for ESRRA Gene
HOMER Transcription Factor Regulatory Elements motif ESRRA
  • Consensus sequence: CAAAGGTCAG Submotif: canonical Cell Type: HepG2 GEO ID: GSE31477

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models and Transcription Factor Targets for ESRRA Gene

Localization for ESRRA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESRRA Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ESRRA Gene COMPARTMENTS Subcellular localization image for ESRRA gene
Compartment Confidence
cytoskeleton 5
nucleus 5
extracellular 4
mitochondrion 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for ESRRA Gene

Pathways & Interactions for ESRRA Gene

genes like me logo Genes that share pathways with ESRRA: view

Gene Ontology (GO) - Biological Process for ESRRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007005 mitochondrion organization TAS --
GO:0010467 gene expression TAS --
GO:0030522 intracellular receptor signaling pathway TAS 9286700
GO:0032355 response to estradiol IEA --
genes like me logo Genes that share ontologies with ESRRA: view

No data available for SIGNOR curated interactions for ESRRA Gene

Drugs & Compounds for ESRRA Gene

(35) Drugs for ESRRA Gene - From: Novoseek, IUPHAR, DGIdb, ApexBio, Tocris, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fulvestrant Approved, Investigational Pharma Antagonist Estrogen receptor antagonist,high affinity, Hormone therapy 173
Estradiol Approved, Investigational Pharma Sex hormone 1094
Estriol Approved Pharma Agonist 0
Estrone Approved Pharma Agonist Estrogenic hormone 19
Ethinyl Estradiol Approved Pharma Oral contraceptive 659

(10) Additional Compounds for ESRRA Gene - From: IUPHAR, Tocris, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5,7-dihydroxy-4-methoxyisoflavone
Agonist
7,4-dihydroxyisoflavone
Agonist
17a-Estradiol
  • 1,3,5-Estratriene-3,17a-diol
  • 13b-Methyl-1,3,5(10)-gonatriene-3,17a-diol
  • 17-Epiestradiol
  • 17a-Oestradiol
  • 3,17-Dihydroxyestratriene
57-91-0
DPN
1428-67-7
genes like me logo Genes that share compounds with ESRRA: view

Transcripts for ESRRA Gene

Unigene Clusters for ESRRA Gene

Estrogen-related receptor alpha:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ESRRA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
SP1: - - -
SP2:
SP3: - -
SP4:
SP5:

Relevant External Links for ESRRA Gene

GeneLoc Exon Structure for
ESRRA
ECgene alternative splicing isoforms for
ESRRA

Expression for ESRRA Gene

mRNA expression in normal human tissues for ESRRA Gene

mRNA differential expression in normal tissues according to GTEx for ESRRA Gene

This gene is overexpressed in Muscle - Skeletal (x5.2) and Heart - Left Ventricle (x4.4).

Protein differential expression in normal tissues from HIPED for ESRRA Gene

This gene is overexpressed in Lung (50.6) and Peripheral blood mononuclear cells (15.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ESRRA Gene



SOURCE GeneReport for Unigene cluster for ESRRA Gene Hs.110849

genes like me logo Genes that share expression patterns with ESRRA: view

Protein tissue co-expression partners for ESRRA Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ESRRA Gene

Orthologs for ESRRA Gene

This gene was present in the common ancestor of animals.

Orthologs for ESRRA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESRRA 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ESRRA 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESRRA 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esrra 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESRRA 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10209 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12278 35
zebrafish
(Danio rerio)
Actinopterygii esrra 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ERR 37
  • 43 (a)
ERR 36
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for ESRRA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ESRRA Gene

ENSEMBL:
Gene Tree for ESRRA (if available)
TreeFam:
Gene Tree for ESRRA (if available)

Paralogs for ESRRA Gene

Paralogs for ESRRA Gene

Pseudogenes.org Pseudogenes for ESRRA Gene

genes like me logo Genes that share paralogs with ESRRA: view

Variants for ESRRA Gene

Sequence variations from dbSNP and Humsavar for ESRRA Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs493052 -- 64,310,908(+) TTCCC(A/G)CTCTG intron-variant
rs620645 -- 64,312,952(+) aggac(A/G)taggt intron-variant
rs731703 -- 64,311,234(+) TCCTG(A/G)CCAGT intron-variant
rs5792320 -- 64,309,434(+) AAAAA(-/A/AA)GGACT intron-variant
rs5792321 -- 64,311,417(+) TTGTC(-/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ESRRA Gene

Variant ID Type Subtype PubMed ID
dgv1156n71 CNV Loss 21882294
nsv469961 CNV Loss 18288195
dgv1163n71 CNV Loss 21882294
dgv1165n71 CNV Loss 21882294
dgv1166n71 CNV Loss 21882294
nsv832186 CNV Loss 17160897
nsv897685 CNV Loss 21882294
dgv1168n71 CNV Loss 21882294
nsv357 CNV Insertion 18451855

Variation tolerance for ESRRA Gene

Residual Variation Intolerance Score: 42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ESRRA Gene

HapMap Linkage Disequilibrium report
ESRRA
Human Gene Mutation Database (HGMD)
ESRRA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESRRA Gene

Disorders for ESRRA Gene

MalaCards: The human disease database

(4) MalaCards diseases for ESRRA Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
estrogen-receptor negative breast cancer
vaginal discharge
endometrial cancer
  • endometrial cancer, familial
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards
Search ESRRA in MalaCards View complete list of genes associated with diseases

Relevant External Links for ESRRA

Genetic Association Database (GAD)
ESRRA
Human Genome Epidemiology (HuGE) Navigator
ESRRA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESRRA
genes like me logo Genes that share disorders with ESRRA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ESRRA Gene

Publications for ESRRA Gene

  1. Identification of a new class of steroid hormone receptors. (PMID: 3267207) Giguere V. … Evans R.M. (Nature 1988) 2 3 4 67
  2. Identification and characterization of estrogen receptor-related receptor alpha and gamma in human glioma and astrocytoma cells. (PMID: 19822186) Gandhari M.K. … Wainer I.W. (Mol. Cell. Endocrinol. 2010) 3 23
  3. Estrogen-related receptor alpha and PGC-1-related coactivator constitute a novel complex mediating the biogenesis of functional mitochondria. (PMID: 20067526) Mirebeau-Prunier D. … Savagner F. (FEBS J. 2010) 3 23
  4. Regulation of ERRalpha gene expression by estrogen receptor agonists and antagonists in SKBR3 breast cancer cells: differential molecular mechanisms mediated by g protein-coupled receptor GPR30/GPER-1. (PMID: 20211987) Li Y. … Teng C.T. (Mol. Endocrinol. 2010) 3 23
  5. Troglitazone is an estrogen-related receptor alpha and gamma inverse agonist. (PMID: 20298676) Wang Y. … Wong C.W. (Biochem. Pharmacol. 2010) 23 25

Products for ESRRA Gene

  • Addgene plasmids for ESRRA

Sources for ESRRA Gene

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