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

Gene ID: 2101, updated on 3-Jun-2018
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; 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]
Expression
Ubiquitous expression in duodenum (RPKM 26.2), kidney (RPKM 21.8) and 24 other tissues See more
Orthologs
See ESRRA in Genome Data Viewer
Location:
11q13.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 KCNK4-TEX40 readthrough Neighboring gene potassium two pore domain channel subfamily K member 4 Neighboring gene catsper channel auxiliary subunit zeta Neighboring gene tRNA methyltransferase subunit 11-2 Neighboring gene peroxiredoxin 5 Neighboring gene uncharacterized LOC102723878 Neighboring gene coiled-coil domain containing 88B

  • 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 Jun 15 11:32:44 2016

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

  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • 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...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • 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)
    Mitochondrial Gene Expression, organism-specific biosystemNumerous nuclear-encoded genes co-ordinate the expression of genes encoded on the mitochondrial genome.
  • 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...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
  • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
    Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    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...
  • Preimplantation Embryo, organism-specific biosystem (from WikiPathways)
    Preimplantation Embryo, organism-specific biosystemThe source of this pathway is RNA-Seq data from single-cell pre-implantation embryos (Supplemental Table 1): http://www.nature.com/nsmb/journal/v20/n9/full/nsmb.2660.html Analysis options for runnin...
  • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
    Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
  • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
nuclear receptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
steroid binding IEA
Inferred from Electronic Annotation
more info
 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cartilage development IEA
Inferred from Electronic Annotation
more info
 
intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
mitochondrion organization TAS
Traceable Author Statement
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II 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 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
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
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
fibrillar center IDA
Inferred from Direct Assay
more info
 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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
    ENSP00000384851.1, OTTHUMP00000198091, ENST00000405666.5, 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
    ENSP00000385971.1, OTTHUMP00000198089, ENST00000406310.5, 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
    ENSP00000000442.6, OTTHUMP00000198090, ENST00000000442.10, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

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

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