| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 2779 |
Name | GNAT1 |
Synonym | CSNBAD3|GBT1|GNATR;guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1;GNAT1;guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 |
Definition | guanine nucleotide-binding protein G(T), alpha-1 subunit|guanine nucleotide-binding protein G(t) subunit alpha-1|rod-type transducin alpha subunit|transducin alpha-1 chain|transducin, rod-specific |
Position | 3p21 |
Gene Type | protein-coding |
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PAH Type |
Description |
PAH | "We observed linkage evidence in four regions: 3q22 ([median log of the odds (LOD) = 3.43]), 3p12 (median LOD) = 2.35), 2p22 (median LOD = 2.21), and 13q21 (median LOD = 2.09). When used in conjunction with the non-parametric bootstrap, our approach yields high-resolution to identify candidate gene regions containing putative BMPR2-interacting genes. Imputation of the disease model by LOD-score maximization indicates that the 3q22 locus alone predicts most FPAH cases in BMPR2 mutation carriers, providing strong evidence that BMPR2 and the 3q22 locus interact epistatically." |
| More detail of all Human literatures about GNAT1 | |
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Pathways and Diseases |
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Pathway | visual signal transduction;PID BioCarta;100042 |
Pathway | Opioid Signalling;Reactome;REACT:15295 |
Pathway | Visual signal transduction: Rods;PID Curated;200139 |
Pathway | Signaling by GPCR;Reactome;REACT:14797 |
Pathway | Muscarinic acetylcholine receptor 2 and 4 signaling pathway;PANTHER;P00043 |
Pathway | Heterotrimeric G-protein signaling pathway-rod outer segment phototransduction;PANTHER;P00028 |
Pathway | Phototransduction;KEGG PATHWAY;hsa04744 |
Disease | Night blindness, congenital stationary, autosomal dominant 3;OMIM |
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External Links |
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Links to Entrez Gene | 2779 |
Links to all GeneRIF Items | 2779 |
Links to iHOP | 2779 |
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Sequence Information |
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Nucleotide Sequence |
>2779 : length: 1053 atgggggctggggccagtgctgaggagaagcactccagggagctggaaaagaagctgaaa gaggacgctgagaaggatgctcgaaccgtgaagctgctgcttctgggtgccggtgagtcc gggaagagcaccatcgtcaagcagatgaagattatccaccaggacgggtactcgctggaa gagtgcctcgagtttatcgccatcatctacggcaacacgttgcagtccatcctggccatc gtacgcgccatgaccacactcaacatccagtacggagactctgcacgccaggacgacgcc cggaagctgatgcacatggcagacactatcgaggagggcacgatgcccaaggagatgtcg gacatcatccagcggctgtggaaggactccggtatccaggcctgttttgagcgcgcctcg gagtaccagctcaacgactcggcgggctactacctctccgacctggagcgcctggtaacc ccgggctacgtgcccaccgagcaggacgtgctgcgctcgcgagtcaagaccactggcatc atcgagacgcagttctccttcaaggatctcaacttccggatgttcgatgtgggcgggcag cgctcggagcgcaagaagtggatccactgcttcgagggcgtgacctgcatcatcttcatc gcggcgctgagcgcctacgacatggtgctagtggaggacgacgaagtgaaccgcatgcac gagagcctgcacctgttcaacagcatctgcaaccaccgctacttcgccacgacgtccatc gtgctcttccttaacaagaaggacgtcttcttcgagaagatcaagaaggcgcacctcagc atctgtttcccggactacgatggacccaacacctacgaggacgccggcaactacatcaag gtgcagttcctcgagctcaacatgcggcgcgacgtgaaggagatctattcccacatgacg tgcgccaccgacacgcagaacgtcaaatttgtcttcgacgctgtcaccgacatcatcatc aaggagaacctcaaagactgtggcctcttctga |
Protein Sequence |
>2779 : length: 350 MGAGASAEEKHSRELEKKLKEDAEKDARTVKLLLLGAGESGKSTIVKQMKIIHQDGYSLE ECLEFIAIIYGNTLQSILAIVRAMTTLNIQYGDSARQDDARKLMHMADTIEEGTMPKEMS DIIQRLWKDSGIQACFERASEYQLNDSAGYYLSDLERLVTPGYVPTEQDVLRSRVKTTGI IETQFSFKDLNFRMFDVGGQRSERKKWIHCFEGVTCIIFIAALSAYDMVLVEDDEVNRMH ESLHLFNSICNHRYFATTSIVLFLNKKDVFFEKIKKAHLSICFPDYDGPNTYEDAGNYIK VQFLELNMRRDVKEIYSHMTCATDTQNVKFVFDAVTDIIIKENLKDCGLF |