Human Gene ESRRA (ENST00000000442.11) from GENCODE V44
  Description: Homo sapiens estrogen related receptor alpha (ESRRA), transcript variant 1, mRNA. (from RefSeq NM_004451)
RefSeq Summary (NM_004451): 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].
Gencode Transcript: ENST00000000442.11
Gencode Gene: ENSG00000173153.17
Transcript (Including UTRs)
   Position: hg38 chr11:64,305,524-64,316,743 Size: 11,220 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr11:64,307,180-64,315,966 Size: 8,787 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:64,305,524-64,316,743)mRNA (may differ from genome)Protein (423 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q569H8_HUMAN
DESCRIPTION: SubName: Full=ESRRA protein; SubName: Full=Estrogen-related nuclear receptor alpha; SubName: Full=Estrogen-related receptor alpha; SubName: Full=HCG2016877, isoform CRA_b;
SIMILARITY: Belongs to the nuclear hormone receptor family.
SIMILARITY: Contains 1 nuclear receptor DNA-binding domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ESRRA
Diseases sorted by gene-association score: endometrial cancer (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.97 RPKM in Heart - Left Ventricle
Total median expression: 704.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -125.50225-0.558 Picture PostScript Text
3' UTR -332.90777-0.428 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008946 - Nucl_hormone_rcpt_ligand-bd
IPR000536 - Nucl_hrmn_rcpt_lig-bd_core
IPR024178 - Oestrogen_rcpt-rel
IPR001723 - Str_hrmn_rcpt
IPR001628 - Znf_hrmn_rcpt
IPR013088 - Znf_NHR/GATA

Pfam Domains:
PF00104 - Ligand-binding domain of nuclear hormone receptor
PF00105 - Zinc finger, C4 type (two domains)

ModBase Predicted Comparative 3D Structure on Q569H8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003707 steroid hormone receptor activity
GO:0005496 steroid binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0030278 regulation of ossification
GO:0032355 response to estradiol
GO:0042127 regulation of cell proliferation
GO:0043401 steroid hormone mediated signaling pathway
GO:0045667 regulation of osteoblast differentiation
GO:0045670 regulation of osteoclast differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051216 cartilage development
GO:1900078 positive regulation of cellular response to insulin stimulus

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0015630 microtubule cytoskeleton
GO:0045171 intercellular bridge


-  Descriptions from all associated GenBank mRNAs
  X51416 - Human mRNA for steroid hormone receptor hERR1.
L38487 - Human estrogen receptor-related protein (hERRa1) mRNA, 3' end, partial cds.
BC063795 - Homo sapiens estrogen-related receptor alpha, mRNA (cDNA clone MGC:70614 IMAGE:6527166), complete cds.
BC073956 - Homo sapiens estrogen-related receptor alpha, mRNA (cDNA clone IMAGE:6011619), partial cds.
JD406986 - Sequence 388010 from Patent EP1572962.
JD458366 - Sequence 439390 from Patent EP1572962.
BC092470 - Homo sapiens estrogen-related receptor alpha, mRNA (cDNA clone MGC:104575 IMAGE:30336569), complete cds.
BC093720 - Homo sapiens estrogen-related receptor alpha, mRNA (cDNA clone MGC:120755 IMAGE:7939565), complete cds.
BC093722 - Homo sapiens estrogen-related receptor alpha, mRNA (cDNA clone MGC:120757 IMAGE:7939567), complete cds.
JD117402 - Sequence 98426 from Patent EP1572962.
AB463611 - Synthetic construct DNA, clone: pF1KB7713, Homo sapiens ESRRA gene for estrogen-related receptor alpha, without stop codon, in Flexi system.
EU446471 - Synthetic construct Homo sapiens clone IMAGE:100070250; IMAGE:100011680; FLH258212.01L estrogen-related receptor alpha (ESRRA) gene, encodes complete protein.
HQ692867 - Homo sapiens estrogen-related nuclear receptor alpha (NR3B1) mRNA, complete cds.
JD023982 - Sequence 5006 from Patent EP1572962.
JD033656 - Sequence 14680 from Patent EP1572962.
BC007915 - Homo sapiens estrogen-related receptor alpha, mRNA (cDNA clone IMAGE:4301880), partial cds.
BC033701 - Homo sapiens, Similar to estrogen-related receptor alpha, clone IMAGE:3458379, mRNA, partial cds.
AB362579 - Homo sapiens ESRRA mRNA for estrogen-related receptor alpha, partial cds, splicing variant 1.
BC011528 - Homo sapiens, clone IMAGE:3855067, mRNA, partial cds.
JD218468 - Sequence 199492 from Patent EP1572962.
JD453292 - Sequence 434316 from Patent EP1572962.
JD084580 - Sequence 65604 from Patent EP1572962.
JD513783 - Sequence 494807 from Patent EP1572962.
JD160045 - Sequence 141069 from Patent EP1572962.
JD185926 - Sequence 166950 from Patent EP1572962.
JD352622 - Sequence 333646 from Patent EP1572962.
JD080225 - Sequence 61249 from Patent EP1572962.
JD119459 - Sequence 100483 from Patent EP1572962.
JD270766 - Sequence 251790 from Patent EP1572962.
JD380659 - Sequence 361683 from Patent EP1572962.
JD068060 - Sequence 49084 from Patent EP1572962.
JD186190 - Sequence 167214 from Patent EP1572962.
JD398399 - Sequence 379423 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_pgc1aPathway - Regulation of PGC-1a

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000000442.1, ENST00000000442.10, ENST00000000442.2, ENST00000000442.3, ENST00000000442.4, ENST00000000442.5, ENST00000000442.6, ENST00000000442.7, ENST00000000442.8, ENST00000000442.9, hCG_2016877, NM_004451, NR3B1, Q569H8, Q569H8_HUMAN, Q6P3W9, uc001nzq.1, uc001nzq.2, uc001nzq.3, uc001nzq.4
UCSC ID: ENST00000000442.11
RefSeq Accession: NM_004451
Protein: Q569H8 CCDS: CCDS41667.1, CCDS60830.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.