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

Gene ID: 2101, updated on 22-Aug-2020

Summary

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
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

Genomic context

See ESRRA in Genome Data Viewer
Location:
11q13.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (64305524..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 CRISPRi-validated cis-regulatory element chr11.3041

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
nuclear receptor activity IBA
Inferred from Biological aspect of Ancestor
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 
sequence-specific double-stranded 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
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cartilage development 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 by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001282450.2NP_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
    UniProtKB/TrEMBL
    Q569H8
    Related
    ENSP00000384851.1, ENST00000405666.5
    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_001282451.2NP_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
    ENSP00000385971.2, ENST00000406310.6
    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_004451.5NP_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
    UniProtKB/TrEMBL
    Q569H8
    Related
    ENSP00000000442.6, ENST00000000442.11
    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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    64305524..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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