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    ESRRA estrogen related receptor alpha [ Homo sapiens (human) ]

    Gene ID: 2101, updated on 12-Nov-2024

    Summary

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    Official Symbol
    ESRRAprovided by HGNC
    Official Full Name
    estrogen related receptor alphaprovided by HGNC
    Primary source
    HGNC:HGNC:3471
    See related
    Ensembl:ENSG00000173153 MIM:601998; AllianceGenome:HGNC:3471
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ERR1; ERRa; ESRL1; NR3B1; ERRalpha
    Summary
    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]
    Expression
    Ubiquitous expression in duodenum (RPKM 26.2), kidney (RPKM 21.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ESRRA in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64305524..64316743)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64295491..64306724)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64072996..64084215)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene KCNK4-CATSPERZ readthrough (NMD candidate) Neighboring gene potassium two pore domain channel subfamily K member 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64066730-64067724 Neighboring gene catsper channel auxiliary subunit zeta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64083535-64084050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3477 Neighboring gene tRNA methyltransferase activator subunit 11-2 Neighboring gene peroxiredoxin 5 Neighboring gene uncharacterized LOC102723878 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64092812-64092964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64098506-64099028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4899 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3478 Neighboring gene coiled-coil domain containing 88B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cell cycle dependent oscillatory expression of estrogen receptor-α links Pol II elongation to neoplastic transformation. Vantaggiato C, et al. Proc Natl Acad Sci U S A, 2014 Jul 1. PMID 24979764, Free PMC Article
    2. The orphan receptor ERRalpha interferes with steroid signaling. Teyssier C, et al. Nucleic Acids Res, 2008 Sep. PMID 18697814, Free PMC Article
    3. Comprehensive Analysis of ESRRA in Endometrial Cancer. Wang S, et al. Technol Cancer Res Treat, 2021 Jan-Dec. PMID 33525981, Free PMC Article
    4. A frequent regulatory variant of the estrogen-related receptor alpha gene associated with BMD in French-Canadian premenopausal women. Laflamme N, et al. J Bone Miner Res, 2005 Jun. PMID 15883633
    5. Expression of ERR-α in ovarian cancer and endometrial carcinoma and its significance. Tai Y, et al. J Biol Regul Homeost Agents, 2020 Nov-Dec. PMID 33242950

    See all (228) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Silencing of ERRalpha gene represses cell proliferation and induces apoptosis in human skin fibroblasts.
      Title: Silencing of ERRα gene represses cell proliferation and induces apoptosis in human skin fibroblasts.
    2. ERRalpha and ERRgamma coordinate expression of genes associated with Alzheimer's disease, inhibiting DKK1 to suppress tau phosphorylation.
      Title: ERRα and ERRγ coordinate expression of genes associated with Alzheimer's disease, inhibiting DKK1 to suppress tau phosphorylation.
    3. Estrogen-related receptor alpha promotes thyroid tumor cell survival via a tumor subtype-specific regulation of target gene networks.
      Title: Estrogen-related receptor alpha promotes thyroid tumor cell survival via a tumor subtype-specific regulation of target gene networks.
    4. Estrogen-related receptor alpha (ERRalpha) promotes the migration, invasion and angiogenesis of breast cancer stem cell-like cells.
      Title: Estrogen-related receptor alpha (ERRα) promotes the migration, invasion and angiogenesis of breast cancer stem cell-like cells.
    5. Estrogen related receptor alpha: Potential modulator of age-related macular degeneration.
      Title: Estrogen related receptor alpha: Potential modulator of age-related macular degeneration.
    6. ERRalpha: unraveling its role as a key player in cell migration.
      Title: ERRα: unraveling its role as a key player in cell migration.
    7. Estrogen-Related Receptor Alpha (ERRalpha) Promotes Cancer Stem Cell-Like Characteristics in Breast Cancer.
      Title: Estrogen-Related Receptor Alpha (ERRα) Promotes Cancer Stem Cell-Like Characteristics in Breast Cancer.
    8. Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease.
      Title: Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease.
    9. The Role of the Estrogen-Related Receptor Alpha (ERRa) in Hypoxia and Its Implications for Cancer Metabolism.
      Title: The Role of the Estrogen-Related Receptor Alpha (ERRa) in Hypoxia and Its Implications for Cancer Metabolism.
    10. ERRalpha Up-Regulates Invadopodia Formation by Targeting HMGCS1 to Promote Endometrial Cancer Invasion and Metastasis.
      Title: ERRα Up-Regulates Invadopodia Formation by Targeting HMGCS1 to Promote Endometrial Cancer Invasion and Metastasis.
    Submit: New GeneRIF Correction See all GeneRIFs (163)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of estrogen-related receptor alpha (ESRRA) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables estrogen response element binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear steroid receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables steroid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in nuclear receptor-mediated steroid hormone signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    steroid hormone receptor ERR1
    Names
    ERR-alpha
    estrogen receptor-like 1
    estrogen-related nuclear receptor alpha
    nuclear receptor subfamily 3 group B member 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001282450.2 → NP_001269379.1  steroid hormone receptor ERR1 isoform 1

      See identical proteins and their annotated locations for NP_001269379.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AP001453, BC092470
      Consensus CDS
      CCDS41667.1
      UniProtKB/Swiss-Prot
      P11474, Q14514
      UniProtKB/TrEMBL
      Q569H8, Q6P3W9
      Related
      ENSP00000384851.1, ENST00000405666.5
      Conserved Domains (2) summary
      cd06946
      Location:197 → 420
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:73 → 168
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

    2. NM_001282451.2 → NP_001269380.1  steroid hormone receptor ERR1 isoform 2

      See identical proteins and their annotated locations for NP_001269380.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the coding region, compared to variant 1. The resulting isoform (2) lacks an internal amino acid, compared to isoform 1.
      Source sequence(s)
      AP001453, BC063795, DB478332, L38487
      Consensus CDS
      CCDS60830.1
      UniProtKB/Swiss-Prot
      P11474
      UniProtKB/TrEMBL
      Q569H8
      Related
      ENSP00000503245.1, ENST00000677967.1
      Conserved Domains (2) summary
      cd06946
      Location:196 → 419
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:73 → 168
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

    3. NM_004451.5 → NP_004442.3  steroid hormone receptor ERR1 isoform 1

      See identical proteins and their annotated locations for NP_004442.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same isoform (1).
      Source sequence(s)
      AP001453, BC063795, DB478332
      Consensus CDS
      CCDS41667.1
      UniProtKB/Swiss-Prot
      P11474, Q14514
      UniProtKB/TrEMBL
      Q569H8, Q6P3W9
      Related
      ENSP00000000442.6, ENST00000000442.11
      Conserved Domains (2) summary
      cd06946
      Location:197 → 420
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:73 → 168
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64305524..64316743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426524.1 → XP_047282480.1  steroid hormone receptor ERR1 isoform X3

    2. XM_017017313.2 → XP_016872802.1  steroid hormone receptor ERR1 isoform X1

    3. XM_047426523.1 → XP_047282479.1  steroid hormone receptor ERR1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64295491..64306724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367967.1 → XP_054223942.1  steroid hormone receptor ERR1 isoform X1

    2. XM_054367969.1 → XP_054223944.1  steroid hormone receptor ERR1 isoform X3

    3. XM_054367968.1 → XP_054223943.1  steroid hormone receptor ERR1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11474.3 GenPept UniProtKB/Swiss-Prot:P11474

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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