RBCC

GCR_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: NR3C1 , GRL
Protein names and data: GCR_HUMAN , Glucocorticoid receptor; GR , Nuclear receptor subfamily 3 group C member 1 Lenght: 777 a.a.
Mass: 85659 Da
fasta formatted sequence
Function: Receptor for glucocorticoids (GC). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors. Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth. Involved in chromatin remodeling. May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic genes expression.
Disease: ( OMIM: 138040 ) Glucocorticoid resistance (GCRES) [MIM:138040]: Hypertensive, hyperandrogenic disorder characterized by increased serum cortisol concentrations. Inheritance is autosomal dominant. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Mitochondrion. Nucleus. Note=Cytoplasmic in the absence of ligand, nuclear after ligand- binding. Isoform Beta: Nucleus. Note=Localized largely in the nucleus.
Tissue specificity: Widely expressed. In the heart, detected in left and right atria, left and right ventricles, aorta, apex, intraventricular septum, and atrioventricular node as well as whole adult and fetal heart.

Genetic variants

Carriers of the 22-Glu-Lys-23 allele are relatively more resistant to the effects of GCs with respect to the sensitivity of the adrenal feedback mechanism than non-carriers, resulting in a better metabolic health profile. Carriers have a better survival than non-carriers, as well as lower serum CRP levels. The 22-Glu-Lys-23 polymorphism is associated with a sex- specific, beneficial body composition at young-adult age, as well as greater muscle strength in males.

23 - 23 R -> K (in dbSNP:rs6190). VAR_014140 6190
29 - 29 F -> L. VAR_015628
65 - 65 F -> V (in dbSNP:rs6192). VAR_014622 6192
112 - 112 L -> F. VAR_015629
233 - 233 D -> N. VAR_015630
363 - 363 N -> S (may increase sensitivity to exogenously administered glucocorticoids; may contribute to central obesity in men and show lack of association with other risk factors for coronary heart disease and diabetes mellitus; dbSNP:rs6195). VAR_004675 6195
421 - 421 C -> Y (in a glucocorticoid resistant leukemia cell line). VAR_015631
477 - 477 R -> H (in GCRES). VAR_013472
559 - 559 I -> N (in GCRES; interferes with translocation to the nucleus and thereby strongly reduces transcription activation. Is equally impaired in nuclear export. Acts as dominant negative mutant). VAR_015632
571 - 571 V -> A (in pseudohermaphroditism; female with hypokalemia due to glucocorticoid resistance; 6-fold reduction in binding affinity compared with the wild-type receptor). VAR_025014
641 - 641 D -> V (in GCRES). VAR_004676
679 - 679 G -> S (in GCRES; has 50% binding affinity). VAR_013473
729 - 729 V -> I (in GCRES). VAR_004677
747 - 747 I -> M (in GCRES; alters interaction with NCOA2 and strongly reduces transcription activation; acts as dominant negative mutant). VAR_015633
753 - 753 L -> F (in two glucocorticoid resistant leukemia cell lines lacking the normal allele). VAR_004678

Database cross-references

UniProt: P04150
Ensembl: ENST00000231509
Ensembl: ENST00000343796
Ensembl: ENST00000394464
Ensembl: ENST00000394466
Ensembl: ENST00000415690
Ensembl: ENST00000424646
Ensembl: ENST00000503201
Ensembl: ENST00000504572
MIM: 138040
neXtProt: NX_P04150
Antibodypedia: P04150 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

GCR_HUMAN

Genetic variants

Database cross-references

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