What does the ESR1 gene do?

What does the ESR1 gene do?

hepatic Estradiol/ESR1 signaling plays a key role in the maintenance of gluconeogenesis and lipid metabolism in males. ESR1 inhibits chorionic gonadotropin-induced steroidogenesis and proliferation of progenitor Leydig cells in mice. High ESR1 expression is associated with metastasis in breast Cancer.

What chromosome is ESR1 on?

The rs2175898 Polymorphism in the ESR1 Gene has a Significant Sex-Specific Effect on Obesity. YB-1 interplays with ERalpha to regulate the stemness and differentiation of ER-positive breast cancer stem cells. ERalpha-related chromothripsis enhances concordant gene transcription on chromosome 17q11.

What is ESR2 gene?

ESR2 Gene – Estrogen Receptor 2 This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria.

Is ESR1 a transcription factor?

Transcriptional regulation of ESR1, the gene that encodes for estrogen receptor α (ER), is critical for regulating the downstream effects of the estrogen signaling pathway in breast cancer such as cell growth.

Where are estrogen receptors in the body?

The ERα is found in endometrium, breast cancer cells, ovarian stromal cells, and the hypothalamus. In males, ERα protein is found in the epithelium of the efferent ducts.

Which superfamily does the progesterone receptor belong to?

Progesterone receptors (PRs) belong to the steroid hormone receptor superfamily of ligand-dependent transcription factors.

What is ESR1 in blood test?

This test assesses for somatic mutations in the ligand-binding domain of the ESR1 gene associated with acquired resistance to endocrine therapy (ie, aromatase inhibitors) in patients with ER-positive metastatic breast cancer.

What are CDK 4 6 inhibitors?

CDK4/6 inhibitors are a newer class of medicines used to treat certain types of metastatic breast cancer, which is cancer that has spread to other parts of the body, such as the bones or liver. These medicines interrupt the process through which breast cancer cells divide and multiply.

How many introns does ESR1 have?

11 distinct
Alternative mRNA variants and regulation: The gene contains 11 distinct gt-ag introns. Transcription produces 8 different mRNAs, 7 alternatively spliced variants and 1 unspliced form.

What is worse HER2-positive or negative?

Breast cancer cells with higher than normal levels of HER2 are called HER2-positive. These cancers tend to grow and spread faster than breast cancers that are HER2-negative, but are much more likely to respond to treatment with drugs that target the HER2 protein.

What is a receptor superfamily?

Proteins of the nuclear receptor super-family are single polypeptide chains with three major domains: a variable amino-terminal domain, a highly conserved DNA-binding domain (DBD), and a less conserved carboxyl-terminal ligand binding domain (LBD). The superfamily is sub-divided into three classes.

What type of receptor is progesterone receptor?

The progesterone receptor (PR) is a member of the nuclear receptor superfamily, which specifically regulates the expression of target genes in response to the hormonal stimulus.

The protein encoded by the ESR1 gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues.

What causes familial multiplicity of estrogen insensitivity associated with a ESR1 mutation?

“Familial multiplicity of estrogen insensitivity associated with a loss-of-function ESR1 mutation.” J. Clin. Endocrinol. Metab. 102:93-99 (2017) [ PubMed] [ Europe PMC] [ Abstract] Cited for: VARIANT ESTRR HIS-394, CHARACTERIZATION OF VARIANT ESTRR HIS-394. The disease is caused by variants affecting the gene represented in this entry.

What is the relationship between ESR1 and bone mineral density?

Genetic variations in ESR1 are correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone.

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