ENSG00000114349


Homo sapiens

Features
Gene ID: ENSG00000114349
  
Biological name :GNAT1
  
Synonyms : GNAT1 / G protein subunit alpha transducin 1 / P11488
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p21.31
Gene start: 50191612
Gene end: 50196516
  
Corresponding Affymetrix probe sets: 207514_s_at (Human Genome U133 Plus 2.0 Array)   214286_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000232461
Ensembl peptide - ENSP00000403537
Ensembl peptide - ENSP00000387555
NCBI entrez gene - 2779     See in Manteia.
OMIM - 139330
RefSeq - NM_144499
RefSeq - NM_000172
RefSeq Peptide - NP_000163
RefSeq Peptide - NP_653082
swissprot - P11488
swissprot - C9JCV8
swissprot - A0A024R2Z1
Ensembl - ENSG00000114349
  
Related genetic diseases (OMIM): 610444 - Night blindness, congenital stationary, autosomal dominant 3, 610444
  616389 - Night blindness, congenital stationary, type 1G, 616389
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gnat1ENSDARG00000044199Danio rerio
 GNAT1ENSGALG00000028697Gallus gallus
 Gnat1ENSMUSG00000034837Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GNAT2 / P19087 / G protein subunit alpha transducin 2ENSG0000013418383
GNAT3 / A8MTJ3 / G protein subunit alpha transducin 3ENSG0000021441579
GNAI1 / P63096 / G protein subunit alpha i1ENSG0000012795569
GNAI2 / P04899 / G protein subunit alpha i2ENSG0000011435367
GNAI3 / P08754 / G protein subunit alpha i3ENSG0000006513566
GNAO1 / P09471 / G protein subunit alpha o1ENSG0000008725861
GNAZ / P19086 / G protein subunit alpha zENSG0000012826655
GNA14 / O95837 / G protein subunit alpha 14ENSG0000015604951
GNA11 / P29992 / G protein subunit alpha 11ENSG0000008825650
GNAQ / P50148 / G protein subunit alpha qENSG0000015605250
GNA15 / P30679 / G protein subunit alpha 15ENSG0000006055845
GNA12 / Q03113 / G protein subunit alpha 12ENSG0000014653540
GNA13 / Q14344 / G protein subunit alpha 13ENSG0000012006339


Protein motifs (from Interpro)
Interpro ID Name
 IPR001019  Guanine nucleotide binding protein (G-protein), alpha subunit
 IPR001408  G-protein alpha subunit, group I
 IPR011025  G protein alpha subunit, helical insertion
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste IEA
 biological_processGO:0006457 protein folding TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0007602 phototransduction IEA
 biological_processGO:0007603 phototransduction, visible light IMP
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0009416 response to light stimulus ISS
 biological_processGO:0009642 response to light intensity IEA
 biological_processGO:0016056 rhodopsin mediated signaling pathway TAS
 biological_processGO:0022400 regulation of rhodopsin mediated signaling pathway TAS
 biological_processGO:0042462 eye photoreceptor cell development IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0050908 detection of light stimulus involved in visual perception IMP
 biological_processGO:0050917 sensory perception of umami taste IBA
 biological_processGO:0051343 positive regulation of cyclic-nucleotide phosphodiesterase activity IEA
 biological_processGO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity ISS
 biological_processGO:0060041 retina development in camera-type eye IEA
 biological_processGO:0071257 cellular response to electrical stimulus IEA
 cellular_componentGO:0001750 photoreceptor outer segment IEA
 cellular_componentGO:0001917 photoreceptor inner segment IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005834 heterotrimeric G-protein complex IBA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane ISS
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0032391 photoreceptor connecting cilium IEA
 cellular_componentGO:0042622 photoreceptor outer segment membrane ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0097381 photoreceptor disc membrane TAS
 molecular_functionGO:0000035 acyl binding ISS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0001664 G-protein coupled receptor binding IBA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0019001 guanyl nucleotide binding IEA
 molecular_functionGO:0019003 GDP binding ISS
 molecular_functionGO:0019901 protein kinase binding ISS
 molecular_functionGO:0031683 G-protein beta/gamma-subunit complex binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
PLC beta mediated events
G-protein activation
Activation of the phototransduction cascade
Inactivation, recovery and regulation of the phototransduction cascade
G alpha (i) signalling events
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0007642 Congenital stationary night blindness 
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 HP:0007663 Decreased central vision 
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 HP:0007766 Hypoplastic optic disks 
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 HP:0008002 Macular pigmentary changes 
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 HP:0011003 Severe Myopia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000186469 GNG2 / P59768 / G protein subunit gamma 2  / complex
 ENSG00000127928 GNGT1 / P63211 / G protein subunit gamma transducin 1  / reaction / complex
 ENSG00000078369 GNB1 / P62873 / G protein subunit beta 1  / reaction / complex
 ENSG00000128617 OPN1SW / P03999 / opsin 1, short wave sensitive  / complex / reaction
 ENSG00000111142 METAP2 / P50579 / methionyl aminopeptidase 2  / reaction
 ENSG00000133256 PDE6B / P35913 / phosphodiesterase 6B  / reaction / complex
 ENSG00000132915 PDE6A / P16499 / phosphodiesterase 6A  / complex / reaction
 ENSG00000136448 NMT1 / P30419 / N-myristoyltransferase 1  / reaction
 ENSG00000164024 METAP1 / P53582 / methionyl aminopeptidase 1  / reaction
 ENSG00000163914 RHO / P08100 / rhodopsin  / reaction / complex
 ENSG00000185527 PDE6G / P18545 / phosphodiesterase 6G  / reaction / complex
 ENSG00000102076 OPN1LW / P04000 / opsin 1, long wave sensitive  / complex / reaction
 ENSG00000152465 NMT2 / O60551 / N-myristoyltransferase 2  / reaction
 ENSG00000268221 OPN1MW / P04001 / opsin 1, medium wave sensitive  / reaction / complex






 

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