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GNAS complex locus

277814683ENSG00000087460ENSMUSG00000027523O95467P63092P84996Q5JWF2P63094Q6R0H7Q9Z0F1Q6R0H6NM_001309842NM_001309861NM_001309883NM_016592NM_080425NM_080426NM_022000NM_201616NM_201617NM_201618NM_001310083NM_001310085NM_001364030NP_001296771NP_001296790NP_001296812NP_057676NP_536350NP_536351NP_000507.1NP_001070956.1NP_001070957.1NP_001070958.1NP_001296769.1NP_536350.2NP_536351.1NP_001070958.1NP_001296812.1NP_001296812.1NP_536350.2NP_062664NP_068840NP_963910NP_963911NP_963912NP_001350959NP_001070975.1NP_001297014.1NP_034439.2NP_963911.1NP_062664.2NP_068840.2NP_001070975.1NP_001297014.1NP_963911.1NP_963912.1GNAS complex locus is a gene locus in humans. Its main product is the heterotrimeric G-protein alpha subunit Gs-α, a key component of G protein-coupled receptor-regulated adenylyl cyclase signal transduction pathways. 1azs: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE1azt: GS-ALPHA COMPLEXED WITH GTP-GAMMA-S1cjk: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH ADENOSINE 5'-(ALPHA THIO)-TRIPHOSPHATE (RP), MG, AND MN1cjt: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH BETA-L-2',3'-DIDEOXYATP, MN, AND MG1cju: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH BETA-L-2',3'-DIDEOXYATP AND MG1cjv: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH BETA-L-2',3'-DIDEOXYATP, MG, AND ZN1cs4: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH 2'-DEOXY-ADENOSINE 3'-MONOPHOSPHATE, PYROPHOSPHATE AND MG1cul: COMPLEX OF GS-ALPHA WITH THE CATALYTIC DOMAINS OF MAMMALIAN ADENYLYL CYCLASE: COMPLEX WITH 2',5'-DIDEOXY-ADENOSINE 3'-TRIPHOSPHATE AND MG1tl7: Complex Of Gs- With The Catalytic Domains Of Mammalian Adenylyl Cyclase: Complex With 2'(3')-O-(N-methylanthraniloyl)-guanosine 5'-triphosphate and Mn1u0h: STRUCTURAL BASIS FOR THE INHIBITION OF MAMMALIAN ADENYLYL CYCLASE BY MANT-GTP2gvd: Complex Of Gs- With The Catalytic Domains Of Mammalian Adenylyl Cyclase: Complex With TNP-ATP and Mn2gvz: Crystal Structure of Complex of Gs- with The Catalytic Domains of Mammalian Adenylyl Cyclase: Complex with MANT-ATP and Mn GNAS complex locus is a gene locus in humans. Its main product is the heterotrimeric G-protein alpha subunit Gs-α, a key component of G protein-coupled receptor-regulated adenylyl cyclase signal transduction pathways. This gene locus has a highly complex imprinted expression pattern. It gives rise to maternally-, paternally-, and biallelically-expressed transcripts that are derived from four alternative promoters with distinct 5' exons. Some transcripts contain a differentially methylated region (DMR) within their 5' exons; such DMRs are commonly found in imprinted genes and correlates with transcript expression. An antisense transcript also exists, and this antisense transcript and one of the sense transcripts are paternally expressed, produce noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second frame-shifted open reading frame, which encodes a structurally unrelated protein named ALEX.

[ "Mutation", "Gene", "Pseudohypoparathyroidism type Ia", "Parathyroid Hormone Resistance", "GNAS Gene Mutation", "Round facies", "Albright hereditary osteodystrophy" ]
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