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

    Gene ID: 2101, updated on 11-Apr-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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    Location:
    11q13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64305524..64316743)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64295491..64306724)
    105.20220307 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
    • 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. The Role of the Estrogen-Related Receptor Alpha (ERRa) in Hypoxia and Its Implications for Cancer Metabolism. Chaltel-Lima L, et al. Int J Mol Sci, 2023 Apr 28. PMID 37175690, Free PMC Article
    2. Multifaceted Transcriptional Network of Estrogen-Related Receptor Alpha in Health and Disease. Cerutti C, et al. Int J Mol Sci, 2023 Feb 21. PMID 36901694, Free PMC Article
    3. ERRα Up-Regulates Invadopodia Formation by Targeting HMGCS1 to Promote Endometrial Cancer Invasion and Metastasis. Tang S, et al. Int J Mol Sci, 2023 Feb 16. PMID 36835419, Free PMC Article
    4. ERRα Attenuates Vascular Inflammation via Enhanced NFκB Degradation Pathway. Yamamoto H, et al. Endocrinology, 2023 Jan 9. PMID 36534970
    5. New insights into cholesterol-mediated ERRα activation in breast cancer progression and pro-tumoral microenvironment orchestration. Brindisi M, et al. FEBS J, 2023 Mar. PMID 36237175

    See all (218) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Estrogen related receptor alpha: Potential modulator of age-related macular degeneration.
      Title: Estrogen related receptor alpha: Potential modulator of age-related macular degeneration.
    3. ERRalpha: unraveling its role as a key player in cell migration.
      Title: ERRα: unraveling its role as a key player in cell migration.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. New insights into cholesterol-mediated ERRalpha activation in breast cancer progression and pro-tumoral microenvironment orchestration.
      Title: New insights into cholesterol-mediated ERRα activation in breast cancer progression and pro-tumoral microenvironment orchestration.
    9. Multifaceted Transcriptional Network of Estrogen-Related Receptor Alpha in Health and Disease.
      Title: Multifaceted Transcriptional Network of Estrogen-Related Receptor Alpha in Health and Disease.
    10. ERRalpha Attenuates Vascular Inflammation via Enhanced NFkappaB Degradation Pathway.
      Title: ERRα Attenuates Vascular Inflammation via Enhanced NFκB Degradation Pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (160)

    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 intracellular steroid hormone receptor 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
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of 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_2023_10

    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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