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Aliases for GNAT1 Gene

Aliases for GNAT1 Gene

  • G Protein Subunit Alpha Transducin 1 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Transducing Activity Polypeptide 1 2 3
  • Transducin Alpha-1 Chain 3 4
  • GNATR 3 4
  • Guanine Nucleotide-Binding Protein G(T), Alpha-1 Subunit 3
  • Guanine Nucleotide-Binding Protein G(T) Subunit Alpha-1 3
  • Rod-Type Transducin Alpha Subunit 3
  • Transducin, Rod-Specific 3
  • CSNBAD3 3
  • CSNB1G 3
  • GBT1 3

External Ids for GNAT1 Gene

Previous GeneCards Identifiers for GNAT1 Gene

  • GC03M049753
  • GC03M049922
  • GC03P050083
  • GC03P050188
  • GC03P050204
  • GC03P050229

Summaries for GNAT1 Gene

Entrez Gene Summary for GNAT1 Gene

  • 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]

GeneCards Summary for GNAT1 Gene

GNAT1 (G Protein Subunit Alpha Transducin 1) is a Protein Coding gene. Diseases associated with GNAT1 include Night Blindness, Congenital Stationary, Autosomal Dominant 3 and Night Blindness, Congenital Stationary, Type 1G. Among its related pathways are Phospholipase-C Pathway and Phototransduction. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GNAT2.

UniProtKB/Swiss-Prot for GNAT1 Gene

  • 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.

Tocris Summary for GNAT1 Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNAT1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNAT1 Gene

Genomics for GNAT1 Gene

Regulatory Elements for GNAT1 Gene

Enhancers for GNAT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G050134 1 FANTOM5 4.3 -57.3 -57309 0.0 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 TCF12 SLC30A9 SP5 NFYC GNAT1 SEMA3F RBM5-AS1
GH03G050192 1.3 Ensembl ENCODE 0.7 +2.8 2812 4.3 PKNOX1 FOXA2 ARID4B DMAP1 FEZF1 ZNF2 YY1 SLC30A9 ZNF143 FOS HYAL3 RBM6 GNAI2 SEMA3F SEMA3F-AS1 SEMA3B-AS1 SEMA3B LSMEM2 HYAL1 IFRD2
GH03G050201 1.8 FANTOM5 Ensembl ENCODE dbSUPER 0.4 +12.5 12481 4.8 HDGF FOXA2 ARID4B DMAP1 ZNF48 YY1 FOS SP3 SP5 MXD4 RBM6 GNAI2 SEMA3B SEMA3B-AS1 LSMEM2 CYB561D2 HYAL3 SEMA3F SEMA3F-AS1 RBM5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNAT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GNAT1 Gene

Chromosome:
3
Start:
50,191,610 bp from pter
End:
50,197,696 bp from pter
Size:
6,087 bases
Orientation:
Plus strand

Genomic View for GNAT1 Gene

Genes around GNAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAT1 Gene

Proteins for GNAT1 Gene

  • Protein details for GNAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11488-GNAT1_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(t) subunit alpha-1
    Protein Accession:
    P11488
    Secondary Accessions:
    • Q4VBN2

    Protein attributes for GNAT1 Gene

    Size:
    350 amino acids
    Molecular mass:
    40041 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for GNAT1 Gene

neXtProt entry for GNAT1 Gene

Post-translational modifications for GNAT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GNAT1 Gene

No data available for DME Specific Peptides for GNAT1 Gene

Domains & Families for GNAT1 Gene

Gene Families for GNAT1 Gene

Suggested Antigen Peptide Sequences for GNAT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P11488

UniProtKB/Swiss-Prot:

GNAT1_HUMAN :
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
Family:
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
genes like me logo Genes that share domains with GNAT1: view

Function for GNAT1 Gene

Molecular function for GNAT1 Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),alpha transducin,retinal rod cells
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for GNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000035 acyl binding ISS --
GO:0000166 nucleotide binding IEA --
GO:0001664 G-protein coupled receptor binding IBA --
GO:0003924 GTPase activity IEA,TAS --
GO:0004871 signal transducer activity IBA,IEA --
genes like me logo Genes that share ontologies with GNAT1: view
genes like me logo Genes that share phenotypes with GNAT1: view

Human Phenotype Ontology for GNAT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNAT1 Gene

MGI Knock Outs for GNAT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GNAT1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GNAT1 Gene

Localization for GNAT1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNAT1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
mitochondrion 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IDA 2534964
GO:0001917 photoreceptor inner segment IDA 2534964
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005834 heterotrimeric G-protein complex IBA --
genes like me logo Genes that share ontologies with GNAT1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GNAT1 Gene

Pathways & Interactions for GNAT1 Gene

genes like me logo Genes that share pathways with GNAT1: view

SIGNOR curated interactions for GNAT1 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste IEA --
GO:0006457 protein folding TAS --
GO:0007165 signal transduction IEA,NAS 8673138
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA --
genes like me logo Genes that share ontologies with GNAT1: view

Drugs & Compounds for GNAT1 Gene

(5) Drugs for GNAT1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0
Hydroxydimethylarsine Oxide Experimental Pharma Target 0
Tetrafluoroaluminate Ion Experimental Pharma Target 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNAT1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
8-Bromo-cGMP, sodium salt
51116-01-9
CMPD101
865608-11-3
Gallein
2103-64-2
G-Protein antagonist peptide
143675-79-0
Pertussis Toxin
70323-44-3

(5) Tocris Compounds for GNAT1 Gene

Compound Action Cas Number
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG 51116-01-9
CMPD101 Potent and selective GRK2/3 inhibitor 865608-11-3
Gallein Inhibitor of betagamma signaling 2103-64-2
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt 70323-44-3
genes like me logo Genes that share compounds with GNAT1: view

Transcripts for GNAT1 Gene

Unigene Clusters for GNAT1 Gene

Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GNAT1

Alternative Splicing Database (ASD) splice patterns (SP) for GNAT1 Gene

No ASD Table

Relevant External Links for GNAT1 Gene

GeneLoc Exon Structure for
GNAT1
ECgene alternative splicing isoforms for
GNAT1

Expression for GNAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNAT1 Gene

mRNA differential expression in normal tissues according to GTEx for GNAT1 Gene

This gene is overexpressed in Testis (x20.0) and Liver (x4.5).

Protein differential expression in normal tissues from HIPED for GNAT1 Gene

This gene is overexpressed in Retina (68.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GNAT1 Gene



Protein tissue co-expression partners for GNAT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GNAT1 Gene:

GNAT1

SOURCE GeneReport for Unigene cluster for GNAT1 Gene:

Hs.517978

mRNA Expression by UniProt/SwissProt for GNAT1 Gene:

P11488-GNAT1_HUMAN
Tissue specificity: Rod. Predominantly expressed in the retina followed by the ciliary body, iris and retinal pigment epithelium.

Evidence on tissue expression from TISSUES for GNAT1 Gene

  • Eye(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNAT1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • blood
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with GNAT1: view

Primer Products

Orthologs for GNAT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GNAT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNAT1 34 35
  • 99.71 (n)
oppossum
(Monodelphis domestica)
Mammalia GNAT1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAT1 34 35
  • 93.81 (n)
cow
(Bos Taurus)
Mammalia GNAT1 34 35
  • 93.43 (n)
mouse
(Mus musculus)
Mammalia Gnat1 34 16 35
  • 89.33 (n)
rat
(Rattus norvegicus)
Mammalia Gnat1 34
  • 89.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GNAT1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNAT1 34 35
  • 89.24 (n)
lizard
(Anolis carolinensis)
Reptilia GNAT1 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnat1 34
  • 79.81 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1007 34
zebrafish
(Danio rerio)
Actinopterygii gnat1 34 35
  • 81.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta G-oalpha47A 35
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea goa-1 35
  • 58 (a)
OneToMany
gpa-7 36
  • 49 (a)
gpa-4 36
  • 48 (a)
gpa-3 36
  • 47 (a)
odr-3 36
  • 47 (a)
gpa-1 36
  • 43 (a)
gpa-2 36
  • 42 (a)
gpa-11 36
  • 40 (a)
gpa-8 36
  • 40 (a)
gpa-6 36
  • 38 (a)
gpa-15 36
  • 36 (a)
gpa-9 36
  • 36 (a)
gpa-10 36
  • 35 (a)
gpa-14 36
  • 30 (a)
Species where no ortholog for GNAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNAT1 Gene

ENSEMBL:
Gene Tree for GNAT1 (if available)
TreeFam:
Gene Tree for GNAT1 (if available)

Paralogs for GNAT1 Gene

Paralogs for GNAT1 Gene

(19) SIMAP similar genes for GNAT1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GNAT1: view

Variants for GNAT1 Gene

Sequence variations from dbSNP and Humsavar for GNAT1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs104893740 Pathogenic, Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) [MIM:610444] 50,193,139(+) TGCCG(A/G)TGAGT reference, missense
rs786205853 Pathogenic, Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) [MIM:610444] 50,194,111(+) GCGGG(C/G)AGCGC reference, missense
rs786205854 Pathogenic, Night blindness, congenital stationary, 1G (CSNB1G) [MIM:616389] 50,193,600(+) GAAGG(A/G)CTCCG reference, missense
rs114828382 Likely benign 50,196,440(+) CTTCC(A/G)TCTGG utr-variant-3-prime
rs116031664 Likely benign 50,195,817(+) AAGTC(C/T)AAGCT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GNAT1 Gene

Variant ID Type Subtype PubMed ID
dgv602n27 CNV loss 19166990
dgv8316n54 CNV loss 21841781
esv2759148 CNV loss 17122850
nsv470561 CNV loss 18288195
nsv515986 CNV loss 19592680
nsv523560 CNV loss 19592680
nsv523662 CNV loss 19592680
nsv834690 CNV loss 17160897
nsv834692 CNV loss 17160897
nsv954855 CNV deletion 24416366

Variation tolerance for GNAT1 Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNAT1 Gene

Human Gene Mutation Database (HGMD)
GNAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNAT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNAT1 Gene

Disorders for GNAT1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for GNAT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
night blindness, congenital stationary, autosomal dominant 3
  • congenital stationary night blindness autosomal dominant 3
night blindness, congenital stationary, type 1g
  • congenital stationary night blindness 1g
congenital stationary night blindness
  • congenital essential nyctalopia
autosomal dominant congenital stationary night blindness
  • adcsnb
autosomal recessive congenital stationary night blindness
  • autosomal recessive complete congenital stationary night blindness
- elite association - COSMIC cancer census association via MalaCards
Search GNAT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNAT1_HUMAN
  • Night blindness, congenital stationary, 1G (CSNB1G) [MIM:616389]: An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. {ECO:0000269 PubMed:22190596}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3) [MIM:610444]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269 PubMed:17584859, ECO:0000269 PubMed:8673138}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GNAT1

Genetic Association Database (GAD)
GNAT1
Human Genome Epidemiology (HuGE) Navigator
GNAT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNAT1
genes like me logo Genes that share disorders with GNAT1: view

No data available for Genatlas for GNAT1 Gene

Publications for GNAT1 Gene

  1. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. (PMID: 17584859) Szabo V. … Gal A. (Hum. Mutat. 2007) 3 4 22 64
  2. GNAT1 associated with autosomal recessive congenital stationary night blindness. (PMID: 22190596) Naeem M.A. … Riazuddin S.A. (Invest. Ophthalmol. Vis. Sci. 2012) 3 4 64
  3. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij J.C. … Florijn R.J. (Ophthalmology 2011) 3 46 64
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for GNAT1 Gene

  • Addgene plasmids for GNAT1

Sources for GNAT1 Gene

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