Aliases for ESRRA Gene
External Ids for ESRRA Gene
Previous HGNC Symbols for ESRRA Gene
Previous GeneCards Identifiers for ESRRA Gene
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]
GeneCards Summary for ESRRA Gene
ESRRA (Estrogen-Related Receptor Alpha) is a Protein Coding gene. Diseases associated with ESRRA include endometrial cancer and breast cancer. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include sequence-specific DNA binding and steroid hormone receptor activity. An important paralog of this gene is AR.
UniProtKB/Swiss-Prot for ESRRA Gene
Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5-TNAAGGTCA-3. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires dimerization and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of energy metabolism. Induces the expression of PERM1 in the skeletal muscle.
Estrogen controls many cellular processes including growth, differentiation and function of the reproductive system. In females, estrogen's main targets are the ovaries, uterus, vagina and mammary glands. In the male, target organs are the testes, prostate and epididymis. Estrogen is also responsible for the growth and maintenance of the skeleton and the normal functioning of the cardiovascular and nervous systems. Estrogen exerts most of its actions via estrogen receptors (ER). Estrogen receptors are ligand-activated transcription factors belonging to the nuclear hormone receptor superfamily. Today, two estrogen receptors are known, ERalpha and ERbeta. ERalpha protein is highly homologous to ERbeta protein, especially in the DNA and ligand binding domains, although divergence exists in the N-terminal transactivation domain. Both receptors interact with the same DNA response element and show a similar ligand binding profile. Upon ligand binding estrogen receptors undergo a conformational change allowing spontaneous dimerization to form either homo- or heterodimers. As a dimer, the estrogen receptor binds to the estrogen response element (ERE) in the promoter region of target genes. ERalpha and ERbeta which are present in a broad spectrum of tissues.