- Pathway & Structure
- Disease States
- Assay Kits & Services
- Human Isoforms
- Drug Information
- Additional Information
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]
There are 79 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (Adenocarcinoma; Breast Neoplasms; Cholesterol, HDL/blood*; Diabetes mellitus, type 2; Endometrial Neoplasms; Genetic Predisposition to Disease; Inflammation; Neoplasms; obesity; Osteoarthritis; Respiratory Tract Diseases), proposed to participate in a pathway (Regulation of PGC-1a) and processes (cartilage development, positive regulation of transcription from RNA polymerase II promoter, regulation of cell proliferation, regulation of osteoblast differentiation, regulation of osteoclast differentiation). Proteins are expected to have molecular functions (metal ion binding, sequence-specific DNA binding, steroid hormone receptor activity, transcription factor activity, zinc ion binding) and to localize in various compartments (cytoplasm, nucleus). Putative protein interactors have been described (DUT, ESR1, ESRRA, ESRRG, EXOSC6, GTF2B, LYST, MACF1ANDKIAA0754, NCOA1, NCOA3 and 6 others).
- Diabetes Mellitus, Type 2
- Cardiovascular Diseases
- Neoplasms, Glandular and Epithelial
- Ovarian Neoplasm
Assay Kits and Services are available from INDIGO Biosciences.
Kits are offered in different assay formats to accommodate researchers’ needs: 3x 32 and 1x 96 assay formats for screening small numbers of test compounds, as well as custom bulk reagents for HTS applications. Assay systems are all inclusive, providing reporter cells, optimized growth media, media for diluting test compounds, a positive-control agonist, luciferase detection reagent, a white assay plate, a detailed protocol, and a protocol quick guide. All kits are shipped on dry ice.
ERRα Reporter Cells are prepared using INDIGO’s proprietary CryoMite™ process. This cryo-preservation method yields high cell viability post-thaw, and provides the convenience of immediately dispensing healthy, division-competent reporter cells into assay plates. There is no need for intermediate spin-and-wash steps, viability determinations, or cell titer adjustments.
The principle application of this assay product is in the screening of test samples to quantify functional activities, either agonist or antagonist, that they may exert against the estrogen related receptor. This kit product is an all-inclusive assay system that includes, in addition to ERRα Reporter Cells, two optimized media for use during cell culture and (optionally) in diluting the test samples, a reference agonist, Luciferase Detection Reagent, a cell culture-ready assay plate, and a detailed protocol.
ERR1; ERRa; ESRL1; NR3B1; ERRalpha
The gene contains 12 distinct gt-ag introns. Transcription produces 7 alternatively spliced mRNAs. There are 4 probable alternative promotors and 2 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by truncation of the 5' end, presence or absence of 5 cassette exons, overlapping exons with different boundaries. 1150 bp of this gene are antisense to spliced gene TRMT112, raising the possibility of regulated alternate expression. Efficacy of translation may be reduced by the presence of a shorter translated product (uORF) initiating at an AUG upstream of the main open reading frame (in variant cAug10).
DUT, ESR1, ESRRA, ESRRG, EXOSC6, GTF2B, LYST, MACF1ANDKIAA0754, NCOA1, NCOA3 and 6 others