Human Gene GNAT1 (ENST00000232461.8) from GENCODE V44
  Description: Homo sapiens G protein subunit alpha transducin 1 (GNAT1), transcript variant 1, mRNA. (from RefSeq NM_144499)
RefSeq Summary (NM_144499): Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009].
Gencode Transcript: ENST00000232461.8
Gencode Gene: ENSG00000114349.10
Transcript (Including UTRs)
   Position: hg38 chr3:50,191,610-50,197,696 Size: 6,087 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr3:50,191,726-50,194,955 Size: 3,230 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:50,191,610-50,197,696)mRNA (may differ from genome)Protein (350 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GNAT1_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein G(t) subunit alpha-1; AltName: Full=Transducin alpha-1 chain;
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase.
SUBUNIT: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts (when myristoylated) with UNC119; interaction is required for localization in sensory neurons.
TISSUE SPECIFICITY: Rod.
DISEASE: Defects in GNAT1 are the cause of congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]; also known as congenital stationary night blindness Nougaret type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision.
SIMILARITY: Belongs to the G-alpha family. G(i/o/t/z) subfamily.
WEB RESOURCE: Name=Mutations of the GNAT1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/gntmut.htm";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GNAT1
Diseases sorted by gene-association score: night blindness, congenital stationary, autosomal dominant 3* (1330), night blindness, congenital stationary, type 1g* (1250), congenital stationary night blindness* (141), autosomal dominant congenital stationary night blindness (21), night blindness (20), fundus albipunctatus (10), autosomal recessive congenital stationary night blindness (9), nasopharyngitis (5), retinitis pigmentosa (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.00 RPKM in Testis
Total median expression: 1.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -45.80116-0.395 Picture PostScript Text
3' UTR -875.302430-0.360 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001408 - Gprotein_alpha_I
IPR001019 - Gprotein_alpha_su
IPR011025 - GproteinA_insert

Pfam Domains:
PF00503 - G-protein alpha subunit

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3RBQ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P11488
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000035 acyl binding
GO:0000166 nucleotide binding
GO:0001664 G-protein coupled receptor binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005525 GTP binding
GO:0019001 guanyl nucleotide binding
GO:0019003 GDP binding
GO:0019901 protein kinase binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0046872 metal ion binding

Biological Process:
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste
GO:0006457 protein folding
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007601 visual perception
GO:0007602 phototransduction
GO:0007603 phototransduction, visible light
GO:0008283 cell proliferation
GO:0009416 response to light stimulus
GO:0009642 response to light intensity
GO:0016056 rhodopsin mediated signaling pathway
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0042462 eye photoreceptor cell development
GO:0050896 response to stimulus
GO:0050908 detection of light stimulus involved in visual perception
GO:0050917 sensory perception of umami taste
GO:0051343 positive regulation of cyclic-nucleotide phosphodiesterase activity
GO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity
GO:0060041 retina development in camera-type eye
GO:0071257 cellular response to electrical stimulus

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0032391 photoreceptor connecting cilium
GO:0042622 photoreceptor outer segment membrane
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0097381 photoreceptor disc membrane


-  Descriptions from all associated GenBank mRNAs
  DQ426874 - Homo sapiens guanine nucleotide binding protein alpha transducing activity polypeptide (GNAT1) mRNA, 5' UTR.
JD348512 - Sequence 329536 from Patent EP1572962.
X15088 - Human GNAT1 mRNA for transducin alpha-chain.
JD189973 - Sequence 170997 from Patent EP1572962.
JD078013 - Sequence 59037 from Patent EP1572962.
JD194356 - Sequence 175380 from Patent EP1572962.
JD161333 - Sequence 142357 from Patent EP1572962.
JD289166 - Sequence 270190 from Patent EP1572962.
KJ891259 - Synthetic construct Homo sapiens clone ccsbBroadEn_00653 GNAT1 gene, encodes complete protein.
KR712193 - Synthetic construct Homo sapiens clone CCSBHm_00036733 GNAT1 (GNAT1) mRNA, encodes complete protein.
KR712194 - Synthetic construct Homo sapiens clone CCSBHm_00036734 GNAT1 (GNAT1) mRNA, encodes complete protein.
BC095505 - Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1, mRNA (cDNA clone MGC:111716 IMAGE:6519160), complete cds.
AF493908 - Homo sapiens guanine nucleotide binding protein alpha transducin rod (GNATR) mRNA, complete cds.
JD544975 - Sequence 525999 from Patent EP1572962.
JD325047 - Sequence 306071 from Patent EP1572962.
JD395215 - Sequence 376239 from Patent EP1572962.
JD114420 - Sequence 95444 from Patent EP1572962.
JD213484 - Sequence 194508 from Patent EP1572962.
JD104713 - Sequence 85737 from Patent EP1572962.
JD397338 - Sequence 378362 from Patent EP1572962.
JD075429 - Sequence 56453 from Patent EP1572962.
JD156836 - Sequence 137860 from Patent EP1572962.
JD531210 - Sequence 512234 from Patent EP1572962.
JD314719 - Sequence 295743 from Patent EP1572962.
JD221988 - Sequence 203012 from Patent EP1572962.
JD495736 - Sequence 476760 from Patent EP1572962.
JD439888 - Sequence 420912 from Patent EP1572962.
JD240639 - Sequence 221663 from Patent EP1572962.
JD323844 - Sequence 304868 from Patent EP1572962.
JD241957 - Sequence 222981 from Patent EP1572962.
JD213473 - Sequence 194497 from Patent EP1572962.
JD271678 - Sequence 252702 from Patent EP1572962.
JD237363 - Sequence 218387 from Patent EP1572962.
JD560326 - Sequence 541350 from Patent EP1572962.
JD055658 - Sequence 36682 from Patent EP1572962.
JD113277 - Sequence 94301 from Patent EP1572962.
JD052372 - Sequence 33396 from Patent EP1572962.
JD244120 - Sequence 225144 from Patent EP1572962.
JD217223 - Sequence 198247 from Patent EP1572962.
JD080036 - Sequence 61060 from Patent EP1572962.
JD396677 - Sequence 377701 from Patent EP1572962.
JD253520 - Sequence 234544 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04744 - Phototransduction

Reactome (by CSHL, EBI, and GO)

Protein P11488 (Reactome details) participates in the following event(s):

R-HSA-2534087 NMT1/2 transfer MYS to GNAT1
R-HSA-2534096 METAP1/2 demethylates GNAT1
R-HSA-8850560 G-protein alpha releases G-protein heterotrimer from PDCL
R-HSA-167433 G-protein beta-gamma subunits rebind the alpha-GDP subunit
R-HSA-112037 Inactivation of PLC beta
R-HSA-167415 G-protein alpha subunit is inactivated
R-HSA-111870 Activation of PLC beta-1/4
R-HSA-112271 The receptor:G-protein complex dissociates
R-HSA-167429 The receptor:G-protein complex binds GTP
R-HSA-8982640 G-alpha(t):G-beta-gamma:Opsins complex dissociates to active G-alpha(t)
R-HSA-74065 GNAT1-GTP binds PDE6 and activates it
R-HSA-2485182 Gt-GTP dissociates to GNAT1-GTP and GNB1:GNGT1
R-HSA-74882 GNAT1-GDP binds to GNB1:GNGT1
R-HSA-2584246 GNAT1-GTP hydrolyses its bound GTP to GDP
R-HSA-167408 The high affinity receptor complex binds to G-protein
R-HSA-167419 The receptor:G-protein complex releases GDP
R-HSA-8982637 Opsins binds G alpha-t
R-HSA-2485180 MII catalyses GDP/GTP exchange on Gt
R-HSA-111879 PIP2 hydrolysis
R-HSA-420883 Opsins act as GEFs for G alpha-t
R-HSA-74059 PDE6 hydrolyses cGMP to GMP
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-2514856 The phototransduction cascade
R-HSA-202040 G-protein activation
R-HSA-112043 PLC beta mediated events
R-HSA-390466 Chaperonin-mediated protein folding
R-HSA-418594 G alpha (i) signalling events
R-HSA-2485179 Activation of the phototransduction cascade
R-HSA-2187338 Visual phototransduction
R-HSA-111885 Opioid Signalling
R-HSA-112040 G-protein mediated events
R-HSA-391251 Protein folding
R-HSA-388396 GPCR downstream signalling
R-HSA-392499 Metabolism of proteins
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000232461.1, ENST00000232461.2, ENST00000232461.3, ENST00000232461.4, ENST00000232461.5, ENST00000232461.6, ENST00000232461.7, GNAT1_HUMAN, GNATR, NM_144499, P11488, Q4VBN2, uc003cym.1, uc003cym.2, uc003cym.3, uc003cym.4
UCSC ID: ENST00000232461.8
RefSeq Accession: NM_144499
Protein: P11488 (aka GNAT1_HUMAN or GBT1_HUMAN)
CCDS: CCDS2812.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.