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Aliases for GNAT1 Gene

Aliases for GNAT1 Gene

  • G Protein Subunit Alpha Transducin 1 2 3
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Transducing Activity Polypeptide 1 2 3 5
  • Transducin Alpha-1 Chain 3 4
  • GNATR 3 4
  • Guanine Nucleotide-Binding Protein G(T), Alpha-1 Subunit 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 Signaling by GPCR and Transport to the Golgi and subsequent modification. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GNAQ.

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 PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNAT1 Gene

Genomics for GNAT1 Gene

Regulatory Elements for GNAT1 Gene

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

Proteomics data for GNAT1 Gene at MOPED

Post-translational modifications for GNAT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GNAT1 Gene

Antibody Products

No data available for DME Specific Peptides for GNAT1 Gene

Domains & 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

No data available for Gene Families for GNAT1 Gene

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:0001664 G-protein coupled receptor binding IBA --
GO:0019003 GDP binding ISS --
GO:0031683 G-protein beta/gamma-subunit complex binding IEA,IBA --
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Localization for GNAT1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNAT1 Gene COMPARTMENTS Subcellular localization image for GNAT1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
golgi apparatus 1
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GNAT1 Gene

Pathways & Interactions for GNAT1 Gene

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

Pathways by source for GNAT1 Gene

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:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA --
GO:0007602 phototransduction IEA --
genes like me logo Genes that share ontologies with GNAT1: view

Drugs & Compounds for GNAT1 Gene

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

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
[D-Trp7,9,10]-Substance P
89430-38-6
mastoparan
72093-21-1
Mastoparan X
72093-22-2
NF 023
104869-31-0
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNAT1 Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
Mastoparan Activates Gi and Go 72093-21-1
Mastoparan X G protein activator peptide 72093-22-2
NF 023 Selective, competitive P2X1 antagonist 104869-31-0
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
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:

Inhibitory RNA Products

Flow Cytometry Products

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 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



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.
genes like me logo Genes that share expression patterns with GNAT1: view

Protein tissue co-expression partners for GNAT1 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia GNAT1 35
  • 93.43 (n)
  • 99.14 (a)
GNAT1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAT1 35
  • 93.81 (n)
  • 99.71 (a)
GNAT1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnat1 35
  • 89.33 (n)
  • 99.43 (a)
Gnat1 16
Gnat1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNAT1 35
  • 99.71 (n)
  • 100 (a)
GNAT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnat1 35
  • 89.33 (n)
  • 99.14 (a)
oppossum
(Monodelphis domestica)
Mammalia GNAT1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNAT1 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNAT1 35
  • 89.24 (n)
  • 96.57 (a)
GNAT1 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNAT1 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnat1 35
  • 79.81 (n)
  • 94.86 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1007 35
zebrafish
(Danio rerio)
Actinopterygii gnat1 35
  • 81.33 (n)
  • 93.14 (a)
gnat1 36
  • 93 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta G-oalpha47A 36
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gpa-1 37
  • 43 (a)
gpa-10 37
  • 35 (a)
gpa-11 37
  • 40 (a)
gpa-14 37
  • 30 (a)
gpa-15 37
  • 36 (a)
gpa-2 37
  • 42 (a)
gpa-3 37
  • 47 (a)
gpa-4 37
  • 48 (a)
gpa-6 37
  • 38 (a)
gpa-7 37
  • 49 (a)
gpa-8 37
  • 40 (a)
gpa-9 37
  • 36 (a)
odr-3 37
  • 47 (a)
goa-1 36
  • 58 (a)
OneToMany
Species with no ortholog for GNAT1:
  • 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
VAR_009279 Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3)
VAR_073798 Night blindness, congenital stationary, 1G (CSNB1G)
VAR_073799 Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3)
rs1129764 -- 50,191,644(+) AGGGT(G/T)CCTGG upstream-variant-2KB, utr-variant-5-prime
rs1048039 -- 50,194,184(+) GCTGA(C/G)CGCGT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv834690 CNV Loss 17160897
nsv515986 CNV Loss 19592680
nsv876768 CNV Gain 21882294
nsv523662 CNV Loss 19592680
nsv876769 CNV Loss 21882294
nsv470561 CNV Loss 18288195
nsv876770 CNV Loss 21882294
nsv523560 CNV Loss 19592680
dgv602n27 CNV Loss 19166990
dgv1456e1 CNV Complex 17122850
nsv834692 CNV Loss 17160897
nsv876771 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
GNAT1
Human Gene Mutation Database (HGMD)
GNAT1

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

Disorders for GNAT1 Gene

MalaCards: The human disease database

(9) 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
  • night blindness, congenital stationary, 1g
congenital stationary night blindness
  • congenital essential nyctalopia
autosomal dominant congenital stationary night blindness
  • adcsnb
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 23 67
  2. Screening of candidate tumor-suppressor genes in 3p21.3 and investigation of the methylation of gene promoters in oral squamous cell carcinoma. (PMID: 23292452) Wang K. … Zhang J. (Oncol. Rep. 2013) 3
  3. GNAT1 associated with autosomal recessive congenital stationary night blindness. (PMID: 22190596) Naeem M.A. … Riazuddin S.A. (Invest. Ophthalmol. Vis. Sci. 2012) 3
  4. 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
  5. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PMID: 20360068) Hutchins J.R. … Peters J.M. (Science 2010) 3

Products for GNAT1 Gene

Sources for GNAT1 Gene

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