Gnas - GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus Gene
Also Known as P1; P2; P3; GSP; Gsa; POH; GPSA; Nesp; SCG6; Gnas1; Nespl; PHP1A; PHP1B; Gnasxl; Nesp55; Oedsml; Galphas; Oed-Sml; Gs-alpha; 5530400H20Rik; A930027G11Rik; C130027O20Rik
Species: Mus musculus
Summary
This 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 and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, which is commonly found in imprinted genes and correlates with transcript expression. This gene has an antisense transcript. One of the transcripts produced from this locus, and the antisense transcript, are both paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Additional transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2015]
Gnas Products (11)
| mRNA | Protein | Name |
|---|---|---|
| NM_001077507.2 | NP_001070975.1 | protein GNAS isoform f |
| NM_001077510.5 | NP_001070978.1 | protein GNAS isoform GNASS |
| NM_001310083.1 | NP_001297012.1 | protein GNAS isoform GNASL |
| NM_001310085.1 | NP_001297014.1 | protein GNAS isoform XXLb2 |
| NM_001364030.1 | NP_001350959.1 | protein ALEX isoform i |
| NM_010309.4 | NP_034439.2 | protein GNAS isoform XLas |
| NM_019690.3 | NP_062664.2 | protein SCG6 (secretogranin VI) isoform SCG6 precursor |
| NM_022000.3 | NP_068840.2 | protein SCG6 (secretogranin VI) isoform SCG6 precursor |
| NM_201616.3 | NP_963910.1 | protein GNAS isoform GNASL |
| NM_201617.2 | NP_963911.1 | protein GNAS isoform XXLb1 |
| NM_201618.2 | NP_963912.1 | protein ALEX isoform Alex |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables G protein activity |
IDA
IDA: Inferred from direct assay
|
21467038 | MGI |
| enables G protein activity |
IMP
IMP: Inferred from mutant phenotype
|
12145344 | MGI |
| enables adenylate cyclase activator activity |
IDA
IDA: Inferred from direct assay
|
17971513 | MGI |
| enables adenylate cyclase regulator activity |
IMP
IMP: Inferred from mutant phenotype
|
12145344 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9016340 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in dendrite |
IDA
IDA: Inferred from direct assay
|
19966281 | MGI |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
9016340 | MGI |
| located in membrane |
IMP
IMP: Inferred from mutant phenotype
|
9322912 | MGI |
| is active in plasma membrane |
IDA
IDA: Inferred from direct assay
|
17971513 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein ALEX protein GNAS protein SCG6 (secretogranin VI) |
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