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

    Gene ID: 2101, updated on 25-Jul-2015
    Official Symbol
    ESRRAprovided by HGNC
    Official Full Name
    estrogen-related receptor alphaprovided by HGNC
    Primary source
    HGNC:HGNC:3471
    See related
    Ensembl:ENSG00000173153; HPRD:07210; MIM:601998; Vega:OTTHUMG00000150641
    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 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]
    Orthologs
    See ESRRA in Epigenomics, MapViewer
    Location:
    11q13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (64305528..64316743)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64072990..64084215)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene potassium channel, two pore domain subfamily K, member 4 Neighboring gene testis expressed 40 Neighboring gene tRNA methyltransferase 11-2 homolog (S. cerevisiae) Neighboring gene peroxiredoxin 5 Neighboring gene uncharacterized LOC102723878 Neighboring gene coiled-coil domain containing 88B

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

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    • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
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    • Gene Expression, organism-specific biosystem (from REACTOME)
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    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
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    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Mitochondrial Gene Expression, organism-specific biosystem (from WikiPathways)
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    • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
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      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
      PPARA activates gene expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    gene expression TAS
    Traceable Author Statement
    more info
     
    intracellular receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrion organization TAS
    Traceable Author Statement
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    organelle organization TAS
    Traceable Author Statement
    more info
     
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    steroid hormone mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    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

    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_001282450.1NP_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)
      BC092470
      Consensus CDS
      CCDS41667.1
      UniProtKB/Swiss-Prot
      P11474
      UniProtKB/TrEMBL
      Q569H8
      Related
      ENSP00000384851, OTTHUMP00000198091, ENST00000405666, OTTHUMT00000319304
      Conserved Domains (2) summary
      cd06946
      Location:197420
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:73168
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
    2. NM_001282451.1NP_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)
      BC063795, DB478332, L38487
      Consensus CDS
      CCDS60830.1
      UniProtKB/Swiss-Prot
      P11474
      UniProtKB/TrEMBL
      Q569H8
      Related
      ENSP00000385971, OTTHUMP00000198089, ENST00000406310, OTTHUMT00000319302
      Conserved Domains (2) summary
      cd06946
      Location:196419
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:73168
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers
    3. NM_004451.4NP_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)
      BC063795, DB478332
      Consensus CDS
      CCDS41667.1
      UniProtKB/Swiss-Prot
      P11474
      UniProtKB/TrEMBL
      Q569H8
      Related
      ENSP00000000442, OTTHUMP00000198090, ENST00000000442, OTTHUMT00000319303
      Conserved Domains (2) summary
      cd06946
      Location:197420
      NR_LBD_ERR; The ligand binding domain of estrogen receptor-related nuclear receptors
      cd07170
      Location:73168
      NR_DBD_ERR; DNA-binding domain of estrogen related receptors (ERR) is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      64305528..64316743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      63955990..63967228
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)