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ESRRA Gene

protein-coding   GIFtS: 67
GCID: GC11P064073

Estrogen-Related Receptor Alpha


(Previous symbol: ESRL1)
  See ESRRA-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Estrogen-Related Receptor Alpha1 2 3     NR3B12 3
ESRL11 2 3 5     ERRa2
Estrogen Receptor-Like 12 3     ERRalpha2
Nuclear Receptor Subfamily 3 Group B Member 12 3     Estrogen-Related Nuclear Receptor Alpha2
ERR-alpha2 3     Steroid Hormone Receptor ERR12
ERR12 3     

External Ids:    HGNC: 34711   Entrez Gene: 21012   Ensembl: ENSG000001731537   OMIM: 6019985   UniProtKB: P114743   

Export aliases for ESRRA gene to outside databases

Previous GC identifers: GC11P066588 GC11P065754 GC11P064323 GC11P063848 GC11P063829 GC11P060400


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 endometrial carcinoma. GO annotations related to this gene include steroid hormone receptor activity and sequence-specific DNA binding. An important paralog of this gene is NR4A3.

UniProtKB/Swiss-Prot: ERR1_HUMAN, P11474
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

summary for ESRRA Gene:
Estrogen controls many cellular processes including growth, differentiation and function of the reproductive
system. In females, estrogen's main targets are the ovaries, uterus, vagina and mammary glands. In the male,
target organs are the testes, prostate and epididymis. Estrogen is also responsible for the growth and
maintenance of the skeleton and the normal functioning of the cardiovascular and nervous systems. Estrogen
exerts most of its actions via estrogen receptors (ER). Estrogen receptors are ligand-activated
transcription factors belonging to the nuclear hormone receptor superfamily. Today, two estrogen receptors
are known, ERalpha and ERbeta. ERalpha protein is highly homologous to ERbeta protein, especially in the DNA
and ligand binding domains, although divergence exists in the N-terminal transactivation domain. Both
receptors interact with the same DNA response element and show a similar ligand binding profile. Upon ligand
binding estrogen receptors undergo a conformational change allowing spontaneous dimerization to form either
homo- or heterodimers. As a dimer, the estrogen receptor binds to the estrogen response element (ERE) in the
promoter region of target genes. ERalpha and ERbeta which are present in a broad spectrum of tissues.

Gene Wiki entry for ESRRA (Estrogen-related receptor alpha) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ESRRA gene promoter:
         CREB   PPAR-gamma1   deltaCREB   ATF-2   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ESRRA promoter sequence
   Search Chromatin IP Primers for ESRRA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ESRRA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q12

ESRRA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ESRRA gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P064073:  view genomic region     (about GC identifiers)

Start:
64,073,044 bp from pter      End:
64,084,215 bp from pter
Size:
11,172 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ERR1_HUMAN, P11474 (See protein sequence)
Recommended Name: Steroid hormone receptor ERR1  
Size: 423 amino acids; 45510 Da
Subunit: Binds DNA as a monomer or a homodimer. Interacts (via the AF2 domain) with coactivator PPARGC1A (via the
L3 motif); the interaction greatly enhances transriptional activity of genes involved in energy metabolism.
Interacts with PIAS4; the interaction enhances sumoylation
Sequence caution: Sequence=AAB17015.1; Type=Erroneous initiation; Sequence=CAA35778.1; Type=Frameshift;
Positions=345, 354;
4 PDB 3D structures from and Proteopedia for ESRRA:
1XB7 (3D)        2PJL (3D)        3D24 (3D)        3K6P (3D)    
Secondary accessions: Q14514
Alternative splicing: 2 isoforms:  P11474-1   P11474-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ESRRA: NX_P11474

Explore proteomics data for ESRRA at MOPED

Post-translational modifications: 

  • Phosphorylation on Ser-19 enhances sumoylation on Lys-14 increasing repression of transcriptional activity1
  • 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 binding1
  • 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-binding1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ESRRA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001269379.1  NP_001269380.1  NP_004442.3  

    ENSEMBL proteins: 
     ENSP00000385971   ENSP00000000442   ENSP00000439896   ENSP00000384851   ENSP00000441970  
     ENSP00000444710  
    Reactome Protein details: P11474

    ESRRA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ESRRA
    GenScript Custom Purified and Recombinant Proteins Services for ESRRA
    Novus Biologicals ESRRA Proteins
    Novus Biologicals ESRRA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ESRRA 

     
    antibodies-online proteins for ESRRA (7 products) 

     
    antibodies-online peptides for ESRRA

    ESRRA Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ESRRA
    R&D Systems Antibodies for ESRRA (ERR alpha/NR3B1)
    OriGene Antibodies for ESRRA
    OriGene Custom Antibody Services for ESRRA
    Novus Biologicals ESRRA Antibodies
    Abcam antibodies for ESRRA
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for ESRRA
    LSBio Antibodies in human, mouse, rat for ESRRA
    antibodies-online antibodies for ESRRA (66 products) 

    ESRRA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ESRRA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ESRRA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for ESRRA 
    antibodies-online kits for ESRRA (12 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NR: Nuclear hormone receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Estrogen-related receptor-alpha
    3B. Estrogen-related receptors

    Selected InterPro protein domains (see all 7):
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR001723 Str_hrmn_rcpt
     IPR027289 Oest-rel_rcp
     IPR024178 Oest_rcpt/oest-rel_rcp
     IPR013088 Znf_NHR/GATA

    Graphical View of Domain Structure for InterPro Entry P11474

    ProtoNet protein and cluster: P11474

    2 Blocks protein domains:
    IPB000003 Retinoic acid receptor signature
    IPB001723 Steroid hormone receptor signature


    UniProtKB/Swiss-Prot: ERR1_HUMAN, P11474
    Similarity: Belongs to the nuclear hormone receptor family. NR3 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    Find genes that share domains with ESRRA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERR1_HUMAN, P11474
    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
    Induction: Induced by PGC1alpha in a number of specific cell types including heart, kidney and muscle

         Genatlas biochemistry entry for ESRRA:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9286700
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003707steroid hormone receptor activity IEA--
    GO:0004879ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity TAS9286700
    GO:0005496steroid binding IEA--
         
    Find genes that share ontologies with ESRRA           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ESRRA:
     Increased Salmonella enterica  

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Esrra):
     adipose tissue  cellular  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  normal  skeleton 

    Find genes that share phenotypes with ESRRA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Esrratm1Vgi for ESRRA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ESRRA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ESRRA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ESRRA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ESRRA

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  CAAAGGTCAG 

    miRNA
    Products:
        
    miRTarBase miRNAs that target ESRRA:
    hsa-mir-423-3p (MIRT016687), hsa-mir-615-3p (MIRT039942), hsa-mir-137 (MIRT006957), hsa-mir-30a-5p (MIRT028410), hsa-mir-155-5p (MIRT020579)

    Block miRNA regulation of human, mouse, rat ESRRA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ESRRA (see all 65):
    hsa-miR-323-3p hsa-miR-642a hsa-miR-3194-5p hsa-miR-15a hsa-miR-637 hsa-miR-761 hsa-miR-4324 hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidESRRA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ESRRA
    Predesigned siRNA for gene silencing in human, mouse, rat ESRRA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ESRRA

    Clone
    Products:
         
    OriGene clones in human, mouse for ESRRA (see all 6)
    OriGene ORF clones in mouse, rat for ESRRA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ESRRA (NM_004451)
    Sino Biological Human cDNA Clone for ESRRA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESRRA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESRRA
    Addgene plasmids for ESRRA 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ESRRA 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESRRA

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-13398 VA6-13400) for ESRRA 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERR1_HUMAN, P11474: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion2
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IDA--
    GO:0015630microtubule cytoskeleton IDA--
    GO:0045171intercellular bridge IDA--

    Find genes that share ontologies with ESRRA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ESRRA About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.67
    Nuclear Receptors0.67
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    3Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5PEDF Induced Signaling
    PGC1Alpha Pathway0.51


    Find genes that share SuperPaths with ESRRA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ESRRA
        PGC1Alpha Pathway

    3 BioSystems Pathways for ESRRA
        Mitochondrial Gene Expression
    Nuclear Receptors
    Energy Metabolism


    3 Reactome Pathways for ESRRA
        Nuclear Receptor transcription pathway
    PPARA activates gene expression
    Transcriptional activation of mitochondrial biogenesis


        Pathway & Disease-focused RT2 Profiler PCR Arrays including ESRRA: 
              Circadian Rhythms in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ESRRA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ESRRA (P114741, 2, 3 ENSP000000004424) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PNRC2Q9NPJ42, 3, ENSP000003348404MINT-15069 I2D: score=2 STRING: ENSP00000334840
    TRRAPQ9Y4A51, 3, ENSP000003477334EBI-372412,EBI-399128 I2D: score=2 STRING: ENSP00000347733
    PPARGC1AQ9UBK23, ENSP000002648674I2D: score=3 STRING: ENSP00000264867
    EXOSC6Q5RKV63, ENSP000003985974I2D: score=2 STRING: ENSP00000398597
    HDAC8Q9BY413, ENSP000003626744I2D: score=2 STRING: ENSP00000362674
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated ----
    GO:0006355regulation of transcription, DNA-templated IMP--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0010467gene expression TAS--
    GO:0030278regulation of ossification ----

    Find genes that share ontologies with ESRRA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ESRRA available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (Z)-4-HydroxytamoxifenMetabolite of tamoxifen (Cat. No. 0999)[68047-06-3]
    ICI 182,780 Estrogen receptor antagonist[129453-61-8]
    DPNHighly potent ERbeta agonist[1428-67-7]
    PPTSubtype-selective ERalpha agonist[263717-53-9]
    PHTPPSelective ERbeta antagonist[805239-56-9]

    2 DrugBank Compounds for ESRRA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-CYCLOHEXYL-N-{[1-(4-METHYLPHENYL)-1H-INDOL-3-YL]METHYL}METHANAMINE-- --target--10592235
    Troglitazone-- 97322-87-7targetinverse agonist20298676

    5 IUPHAR Ligands for ESRRA (Estrogen-related receptor-alpha)    About this table
    LigandTypeActionAffinityPubmed IDs
    cyclohexylmethyl-(1-p-tolyl-1H-indol-3-ylmethyl)-amine
    AgonistInverse agonist6.717556356
    XCT790
    AntagonistAntagonist6.5 - 6.115184675
    genistein
    AgonistAgonist6.5 - 6.114638870
    7,4'-dihydroxyisoflavone
    AgonistAgonist6.5 - 6.114638870
    5,7-dihydroxy-4'-methoxyisoflavone
    AgonistAgonist6.5 - 6.114638870

    Selected Novoseek inferred chemical compound relationships for ESRRA gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 77 223 16464951 (8), 12960079 (7), 18974123 (4), 15713703 (4) (see all 62)
    fulvestrant 67.5 4 16687070 (3), 17631492 (1)
    biochanin a 67.2 1 16515477 (1)
    diethylstilbestrol 51.8 1 11559547 (1)
    daidzein 48.4 1 16515477 (1)
    acetyl-coa 44.3 1 16022198 (1)
    pyruvate 43.3 1 17079227 (1)
    steroid 40.3 11 19264843 (2), 15878968 (2), 18697814 (1), 20400511 (1) (see all 8)
    genistein 35.2 1 16515477 (1)
    tamoxifen 20.9 6 20211987 (2)



    Find genes that share compounds with ESRRA           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ESRRA gene (3 alternative transcripts): 
    NM_001282450.1  NM_001282451.1  NM_004451.4  

    Unigene Cluster for ESRRA:

    Estrogen-related receptor alpha
    Hs.110849  [show with all ESTs]
    Unigene Representative Sequence: BC092470
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406310(uc001nzq.1 uc001nzr.1) ENST00000000442(uc009ypn.1)
    ENST00000539594 ENST00000405666(uc001nzs.1) ENST00000468670 ENST00000467987
    ENST00000545035
    miRNA
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    Block miRNA regulation of human, mouse, rat ESRRA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ESRRA (see all 65):
    hsa-miR-323-3p hsa-miR-642a hsa-miR-3194-5p hsa-miR-15a hsa-miR-637 hsa-miR-761 hsa-miR-4324 hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidESRRA 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ESRRA
    Clone
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    GenScript: all cDNA clones in your preferred vector: ESRRA (NM_004451)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESRRA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESRRA
    Addgene plasmids for ESRRA 
    Primer
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    OriGene qPCR primer pairs and template standards for ESRRA
    OriGene qSTAR qPCR primer pairs in human, mouse for ESRRA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ESRRA
      QuantiTect SYBR Green Assays in human, mouse, rat ESRRA
      QuantiFast Probe-based Assays in human, mouse, rat ESRRA
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-13398 VA6-13400) for ESRRA 

    Additional mRNA sequence: 

    AB362579.1 BC007915.2 BC011528.1 BC033701.1 BC063795.1 BC073956.1 BC092470.1 BC093720.1 
    BC093722.1 HQ692867.1 L38487.1 

    19 DOTS entries:

    DT.75155335  DT.100788956  DT.92032780  DT.100796196  DT.95275489  DT.120754174  DT.100788950  DT.100788958 
    DT.100796190  DT.100038831  DT.120754141  DT.120754248  DT.40267222  DT.95130749  DT.102838738  DT.92412672 
    DT.97860417  DT.100788945  DT.100788946 

    Selected AceView cDNA sequences (see all 828):

    BG397651 BG397458 BQ690283 AI186205 BM739044 BM791802 CB054865 BM768309 
    AI694419 CD676039 BM761146 BM739017 CF131663 CR602131 BF725685 BM721542 
    BM850193 BM760651 BF726316 BF970830 BQ941699 BE886924 BQ575477 BM739465 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ESRRA    About this scheme

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


    ECgene alternative splicing isoforms for ESRRA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ESRRA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCAAGCCA
    ESRRA Expression
    About this image


    ESRRA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Proximal Tubule Cells Proximal Tubule
             Proximal Tubule
     
     Epithelial Cells
             Proximal Tubule Cells Proximal Tubule
    ESRRA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ESRRA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.110849
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ESRRA: 
              Circadian Rhythms in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for ESRRA gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Esrra5 estrogen related receptor, alpha   --   19 (5.08 cM) 6910977 
    lizard
    (Anolis carolinensis)
    Reptilia ESRRA6
    estrogen-related receptor alpha
    77(a)
    1 ↔ 1
    AAWZ02036029(186-5534)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.102092 Xenopus laevis, clone IMAGE5542776, mRNA 75.12(n)    BC044274.1 
    zebrafish
    (Danio rerio)
    Actinopterygii esrra6
    estrogen-related receptor alpha
    64(a)
    1 ↔ 1
    21(26000228-26027586) ENSDARG00000069266
    fruit fly
    (Drosophila melanogaster)
    Insecta ERR3 ligand-dependent nuclear receptor 43(a)   66B11   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ESRRA gene
    NR4A32  NR3C22  NR4A12  PGR2  ESR22  NR3C12  AR2  NR4A22  
    ESRRB2  ESR12  ESRRG2  
    Selected SIMAP similar genes for ESRRA using alignment to 8 protein entries:     ERR1_HUMAN (see all proteins) (see all similar genes):
    HNF4G    ESR1    AR    VDR    ERRgamma    NR3B3
    ESRRB    ESRRG    HNF4alpha    RARG    NR3C2    THRA
    NR3A2    NR3A1    NR2F1    ESR2    NR2F2    NR3C1

    Find genes that share paralogs with ESRRA           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ESRRA
    PGOHUM00000248311 PGOHUM00000248516


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ESRRA (see all 254)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs5207101,2
    C,F--60398811(-) AATTTG/ACCTAT 1 -- us2k11Minor allele frequency- A:0.00MN 184
    rs1176294421,2
    C,F--60399001(+) TCATGG/CAGAAT 1 -- us2k12Minor allele frequency- C:0.01NA EU 711
    rs1114865311,2
    C--60399038(+) CCTCCA/GGAGTA 1 -- us2k12Minor allele frequency- G:0.33CSA 3
    rs1882300001,2
    --60399211(+) GGGCAC/GAGGAA 1 -- us2k10--------
    rs1449716171,2
    C--60399308(+) GGCTG-/GTTTTTCT 1 -- cds10--------
    rs1809339961,2
    --60399356(+) CGACTG/TCCTCT 1 -- us2k10--------
    rs6500121,2
    C,F,H--60399422(-) CTACCC/ACAGCA 1 -- us2k1 tfbs321Minor allele frequency- A:0.04MN NS NA WA CSA 1411
    rs1862889831,2
    --60399655(+) ATCTGC/TGGTTC 1 -- us2k10--------
    rs1166574341,2
    F--60399665(+) CCTCGA/GATCAC 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs2005131661,2
    C--60399785(+) CTAAGA/GAGCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ESRRA (64073044 - 64084215 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ESRRA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv357CNV Insertion18451855
    nsv897685CNV Loss21882294
    dgv1168n71CNV Loss21882294
    dgv1165n71CNV Loss21882294
    dgv1166n71CNV Loss21882294
    dgv1156n71CNV Loss21882294
    nsv832186CNV Loss17160897
    dgv1163n71CNV Loss21882294
    nsv469961CNV Loss18288195

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601998    OMIM disorders: --

    1 disease for ESRRA:    
    About MalaCards
    endometrial carcinoma


    Find genes that share disorders with ESRRA           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ESRRA gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    endometrial carcinoma 54.8 21 17068614 (4), 16681769 (3), 15968320 (2), 17010074 (2) (see all 8)
    metabolic disorder 46.9 14 15184675 (1), 18052088 (1), 19462000 (1), 16515477 (1) (see all 7)
    breast cancer 43.7 55 19138740 (6), 19622763 (5), 19429439 (4), 18974123 (3) (see all 16)
    endometrial cancer 30.3 17 16464951 (7), 17697604 (7), 19416752 (2)
    breast carcinoma 23.2 9 19491275 (3), 15231680 (3), 18974123 (1)
    insulin resistance 17.9 1 17187250 (1)
    obesity 17.1 6 16755280 (2), 15466464 (1), 16286534 (1), 15184675 (1)
    osteoporosis 13.8 5 17556356 (1), 15713703 (1)
    ovarian cancer 11.6 16 16202294 (6), 17509876 (3), 17259555 (1), 18974123 (1)
    tumors 0 25 12438245 (6), 19491275 (3), 19622763 (2), 19429439 (2) (see all 12)

    Genetic Association Database (GAD): ESRRA
    Human Genome Epidemiology (HuGE) Navigator: ESRRA (10 documents)

    Export disorders for ESRRA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ESRRA gene, integrated from 10 sources (see all 211):
    (articles sorted by number of sources associating them with ESRRA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a new class of steroid hormone receptors. (PubMed id 3267207)1, 2, 3 Giguere V.... Evans R.M. (Nature 1988)
    2. The orphan nuclear receptor estrogen-related receptor alpha is a transcriptional regulator of the human medium-chain acyl coenzyme A dehydrogenase gene. (PubMed id 9271417)1, 2, 9 Sladek R.... Giguere V. (Mol. Cell. Biol. 1997)
    3. A frequent regulatory variant of the estrogen-related receptor alpha gene associated with BMD in French-Canadian premenopausal women. (PubMed id 15883633)1, 4, 9 Laflamme N....Rousseau F. (J. Bone Miner. Res. 2005)
    4. Evidence for ligand-independent transcriptional activation of the human estrogen-related receptor alpha (ERRalpha): crystal structure of ERRalpha ligand binding domain in complex with peroxisome proliferator-activated receptor coactivator-1alpha. (PubMed id 15337744)1, 2, 9 Kallen J.... Fournier B. (J. Biol. Chem. 2004)
    5. The transcriptional coactivator PGC-1 regulates the expression and activity of the orphan nuclear receptor estrogen-related receptor alpha (ERRalpha). (PubMed id 12522104)1, 2, 9 Schreiber S.N.... Kralli A. (J. Biol. Chem. 2003)
    6. A single nucleotide in an estrogen-related receptor alpha site can dictate mode of binding and peroxisome proliferator-activated receptor gamma coactivator 1alpha activation of target promoters. (PubMed id 16150865)1, 2, 9 Barry J.B.... Giguere V. (Mol. Endocrinol. 2006)
    7. Genetic analysis of the estrogen-related receptor alpha and studies of association with obesity and type 2 diabetes. (PubMed id 16755280)1, 4, 9 Larsen L.H....Pedersen O. (Int J Obes (Lond) 2007)
    8. An acetylation switch modulates the transcriptional activity of estrogen-related receptor alpha. (PubMed id 20484414)1, 2 Wilson B.J.... Giguere V. (Mol. Endocrinol. 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2101 HGNC: 3471 AceView: ESRRAandPRDX5 Ensembl:ENSG00000173153 euGenes: HUgn2101
    ECgene: ESRRA H-InvDB: ESRRA

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ESRRA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ESRRA Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ESRRA gene:
    Search GeneIP for patents involving ESRRA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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