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GNAT1 Gene

protein-coding   GIFtS: 66
GCID: GC03P050229

Guanine Nucleotide Binding Protein (G Protein), Alpha Transducing...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Guanine Nucleotide Binding Protein (G Protein), Alpha Transducing
Activity Polypeptide 11 2
     Guanine Nucleotide-Binding Protein G(T) Subunit Alpha-12
Transducin Alpha-1 Chain2 3     Guanine Nucleotide-Binding Protein G(T), Alpha-1 Subunit2
GNATR2 3     Rod-Type Transducin Alpha Subunit2
CSNBAD32 5     Transducin, Rod-Specific2
GBT12     

External Ids:    HGNC: 43931   Entrez Gene: 27792   Ensembl: ENSG000001143497   OMIM: 1393305   UniProtKB: P114883   

Export aliases for GNAT1 gene to outside databases

Previous GC identifers: GC03M049753 GC03M049922 GC03P050083 GC03P050188 GC03P050204


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1) is a protein-coding gene. Diseases associated with GNAT1 include autosomal recessive congenital stationary night blindness, and autosomal dominant congenital stationary night blindness. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAQ.

UniProtKB/Swiss-Prot: GNAT1_HUMAN, P11488
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

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-receptor binding
results in detachment of the G protein, switching it to an 'on' state and permitting Galpha activation of
second messenger signalling cascades. There are several types of Galpha proteins; Galphas and Galphai bind
directly to adenylyl cyclase and stimulate or inhibit its activity, leading to an increase or decrease in
cAMP levels respectively.

Gene Wiki entry for GNAT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the GNAT1 gene promoter:
         Egr-3   USF1   Pbx1a   USF-1   HOXA5   Lmo2   Zic3   GATA-2   c-Ets-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNAT1 promoter sequence
   Search Chromatin IP Primers for GNAT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNAT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21

GNAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNAT1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P050229:  view genomic region     (about GC identifiers)

Start:
50,229,043 bp from pter      End:
50,235,129 bp from pter
Size:
6,087 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GNAT1_HUMAN, P11488 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein G(t) subunit alpha-1  
Size: 350 amino acids; 40041 Da
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
1 PDB 3D structure from and Proteopedia for GNAT1:
3RBQ (3D)    
Secondary accessions: Q4VBN2

Explore the universe of human proteins at neXtProt for GNAT1: NX_P11488

Explore proteomics data for GNAT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys42
  • Modification sites at PhosphoSitePlus

  • See GNAT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000163.2  NP_653082.1  

    ENSEMBL proteins: 
     ENSP00000232461   ENSP00000387555   ENSP00000403537  
    Reactome Protein details: P11488

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001019 Gprotein_alpha_su
     IPR011025 GproteinA_insert
     IPR001408 Gprotein_alpha_I
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P11488

    ProtoNet protein and cluster: P11488

    2 Blocks protein domains:
    IPB001019 Alpha G-protein (transducin) signature
    IPB001408 G-protein alpha subunit group I signature


    UniProtKB/Swiss-Prot: GNAT1_HUMAN, P11488
    Similarity: Belongs to the G-alpha family. G(i/o/t/z) subfamily


    GNAT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GNAT1_HUMAN, P11488
    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

         Genatlas biochemistry entry for GNAT1:
    guanine nucleotide binding protein (G protein),alpha transducin,retinal rod cells

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000035acyl binding ISS--
    GO:0001664G-protein coupled receptor binding IBA--
    GO:0003924GTPase activity TAS--
    GO:0004871signal transducer activity IBA--
    GO:0005515protein binding ----
         
    GNAT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GNAT1:
     Decreased Salmonella enterica  

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gnat1):
     behavior/neurological  nervous system  taste/olfaction  vision/eye 

    GNAT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gnat1tm1Clma for GNAT1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNAT1
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    hsa-miR-1321 hsa-let-7d hsa-miR-3921 hsa-let-7g hsa-let-7a hsa-miR-378 hsa-miR-98 hsa-miR-505
    SwitchGear 3'UTR luciferase reporter plasmidGNAT1 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for GNAT1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    plasma membrane3
    golgi apparatus1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IDA2534964
    GO:0001917photoreceptor inner segment IDA2534964
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005834heterotrimeric G-protein complex IBA--

    GNAT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GNAT1 About   (see all 25)  
    See pathways by source

    SuperPathContained pathways About
    1The phototransduction cascade
    The phototransduction cascade0.51
    Inactivation, recovery and regulation of the phototransduction cascade0.49
    Visual signal transduction- Rods0.51
    Activation of the phototransduction cascade0.00
    Phototransduction0.51
    2G-Beta Gamma Signaling
    G-Beta Gamma Signaling0.46
    Relaxin Pathway0.37
    GHRH Signaling0.46
    Hedgehog Signaling in Mammals0.32
    CRHR Pathway0.44
    3ERK Signaling
    Rho Family GTPases0.61
    MAPK Signaling0.58
    ERK Signaling0.61
    Molecular Mechanisms of Cancer0.51
    4CREB Pathway
    CREB Pathway0.68
    Activation of PKC through GPCR0.63
    IP3 Pathway0.68
    Intracellular Calcium Signaling0.50
    5Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GNAT1 (see all 35)
        Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    CDK5 Pathway
    ERK5 Signaling

    1 BioSystems Pathway for GNAT1
        Visual signal transduction- Rods


    5 Reactome Pathways for GNAT1
        G-protein activation
    Activation of the phototransduction cascade
    PLC beta mediated events
    G alpha (i) signalling events
    Inactivation, recovery and regulation of the phototransduction cascade


    1 Kegg Pathway  (Kegg details for GNAT1):
        Phototransduction


    GNAT1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GNAT1
    Interactions:

        Search GeneGlobe Interaction Network for GNAT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GNAT1 (P114882, 3 ENSP000002324614) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UNC119Q134322MINT-8411904 MINT-8411981 MINT-8412025
    RGS16O154923, ENSP000003565294I2D: score=2 STRING: ENSP00000356529
    F2RP251163, ENSP000003213264I2D: score=1 STRING: ENSP00000321326
    RGS9O759163, ENSP000002624064I2D: score=2 STRING: ENSP00000262406
    UNC119BA6NIH72MINT-8411962
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001580detection of chemical stimulus involved in sensory perception of bitter taste IBA--
    GO:0007165signal transduction NAS17584859
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA--
    GO:0007601visual perception TAS8673138

    GNAT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Compounds for GNAT1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GalleinInhibitor of betagamma signaling[2103-64-2]
    Suramin hexasodium saltNon-selective P2 antagonist[129-46-4]
    G-Protein antagonist peptideInhibits G protein activation by GPCRs[143675-79-0]
    8-Bromo-cGMP, sodium salt cGMP analog; activates PKG[51116-01-9]
    Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]

    3 HMDB Compounds for GNAT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    3 DrugBank Compounds for GNAT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Guanosine-5'-Diphosphate-- 146-91-8target--17139284 17016423 10592235
    Hydroxydimethylarsine Oxide-- --target--17139284 17016423 10592235
    Tetrafluoroaluminate Ion-- --target--17139284 17016423 10592235



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GNAT1 gene (2 alternative transcripts): 
    NM_000172.3  NM_144499.2  

    Unigene Cluster for GNAT1:

    Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
    Hs.517978  [show with all ESTs]
    Unigene Representative Sequence: NM_144499
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000232461(uc003cym.2 uc003cyl.2) ENST00000433068 ENST00000440836
    ENST00000467787 ENST00000481246
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    Additional mRNA sequence: 

    AF493908.1 BC095505.1 DQ426874.1 X15088.1 

    4 DOTS entries:

    DT.100028236  DT.120874082  DT.40245932  DT.432778 

    Selected AceView cDNA sequences (see all 126):

    BM686169 CD636903 BM662295 BM688829 BQ639248 BU732906 BQ637453 BM692925 
    BM703978 BM705146 C20786 BQ639944 BQ637667 BM690236 BM687974 BQ640466 
    AF493908 BQ639078 BQ640238 BQ636730 NM_000172 BQ635982 CB565937 BQ639496 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GNAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACGTGCGCCA
    GNAT1 Expression
    About this image


    GNAT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Rod Cells Outer Nuclear Layer
             Photoreceptor-like cells
     
     NULL (Sensory Organs)    fully expand to see all 2 entries
             Photoreceptor-like cells
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    GNAT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNAT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517978

    UniProtKB/Swiss-Prot: GNAT1_HUMAN, P11488
    Tissue specificity: Rod

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GNAT1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnat11 , 5 guanine nucleotide binding protein, alpha transducing more1, 5 89.33(n)1
    99.43(a)1
      9 (58.86 cM)5
    146851  NM_008140.21  NP_032166.11 
     1076744775 
    chicken
    (Gallus gallus)
    Aves GNAT11 guanine nucleotide binding protein (G protein), alpha more 89.24(n)
    96.57(a)
      395426  NM_204691.1  NP_990022.1 
    lizard
    (Anolis carolinensis)
    Reptilia GNAT16
    guanine nucleotide binding protein (G protein), al...
    94(a)
    1 ↔ 1
    2(148660840-148682972)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.10072 Xenopus laevis (clone pXga1) transducin alpha subunit more 79.22(n)    L07771.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gnat12 guanine nucleotide binding protein (G protein), alpha more 81.79(n)   140428  BC059464.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta G-oalpha47A6
    G protein oalpha 47A
    58(a)
    1 → many
    2R(6325490-6353206)
    worm
    (Caenorhabditis elegans)
    Secernentea gpa-73 guanine nucleotide-binding protein 49(a)
    (best of 13)
      IV(10404194-10408441)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GNAT1 gene
    GNAQ2  GNA112  GNA142  GNAI32  GNAT22  GNA132  GNAT32  GNA122  
    GNAI22  GNA152  GNAZ2  GNAO12  GNAI12  
    18 SIMAP similar genes for GNAT1 using alignment to 2 protein entries:     GNAT1_HUMAN (see all proteins):
    GNAT2    GNAT3    GNAI3    GNAI1    DKFZp686O0962    GNAI2
    GNAZ    GNAO1    GNA11    GNA14    GNAQ    GNA12
    GNA15    GNA13    GNAL    GNAS    GSA    WUGSC

    GNAT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GNAT1 (see all 193)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0092794
    Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3)4--see VAR_0092792 G D mis40--------
    rs1048937401,2
    Cpathogenic150162925(+) TGCCGA/GTGAGT 4 D G mis10--------
    rs1439925421,2
    C--50159731(+) ACATAC/TAGGCA 2 -- us2k10--------
    rs1164228031,2
    C,F--50159814(+) TGCTCA/TGGTAC 2 -- us2k11Minor allele frequency- T:0.09WA 118
    rs1930065171,2
    --50159935(+) ATTCAC/TACATG 2 -- us2k10--------
    rs1464106721,2
    --50159955(+) GTGTAC/TACATG 2 -- us2k10--------
    rs1124159451,2
    C,F--50159981(+) GCATGC/TGCACA 2 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1853203631,2
    --50160073(+) CAAATC/GTGTCA 2 -- us2k10--------
    rs1883401171,2
    --50160086(+) TTATTC/GCTCGC 2 -- us2k10--------
    rs730810001,2
    --50160089(+) TTGCTC/GGCTTG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for GNAT1 (50229043 - 50235129 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GNAT1 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv876771CNV Loss21882294
    nsv523662CNV Loss19592680
    nsv876770CNV Loss21882294
    nsv834692CNV Loss17160897
    nsv876769CNV Loss21882294
    dgv602n27CNV Loss19166990
    nsv515986CNV Loss19592680
    nsv470561CNV Loss18288195
    nsv834690CNV Loss17160897
    nsv523560CNV Loss19592680

    Human Gene Mutation Database (HGMD): GNAT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GNAT1
    DNA2.0 Custom Variant and Variant Library Synthesis for GNAT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 139330   
    OMIM disorders: 610444  
    UniProtKB/Swiss-Prot: GNAT1_HUMAN, P11488
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for GNAT1:    
    About MalaCards
    autosomal recessive congenital stationary night blindness    autosomal dominant congenital stationary night blindness    congenital stationary night blindness    fainting
    fundus albipunctatus    night blindness    blindness    night blindness, congenital stationary , 1d, autosomal recessive
    retinal disease    pertussis    retinitis pigmentosa    nasopharyngitis
    huntington's disease    retinitis    multiple myeloma    myeloma
    neuronitis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for GNAT1:
    Night blindness

    GNAT1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GNAT1
    Human Genome Epidemiology (HuGE) Navigator: GNAT1 (2 documents)

    Export disorders for GNAT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GNAT1 gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with GNAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    2. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (Nature 2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Tyrosine phosphorylation of the alpha subunit of transducin and its association with Src in photoreceptor rod outer segments. (PubMed id 11032890)1, 2 Bell M.W.... Ghalayini A.J. (J. Neurochem. 2000)
    5. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. (PubMed id 8673138)1, 2 Dryja T.P.... Arnaud B. (Nat. Genet. 1996)
    6. Characterization of the human rod transducin alpha-subunit gene. (PubMed id 1614872)1, 2 Fong S.-L. (Nucleic Acids Res. 1992)
    7. Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye. (PubMed id 2748346)1, 2 van Dop C.... Apone L.M. (Nucleic Acids Res. 1989)
    8. Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina. (PubMed id 2534964)1, 2 Lerea C.L.... Hurley J.B. (Neuron 1989)
    9. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. (PubMed id 17584859)1, 9 Szabo V....Gal A. (Hum. Mutat. 2007)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2779 HGNC: 4393 AceView: GNAT1 Ensembl:ENSG00000114349 euGenes: HUgn2779
    ECgene: GNAT1 Kegg: 2779 H-InvDB: GNAT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GNAT1 Pharmacogenomics, SNPs, Pathways
    Mutations of the GNAT1 genehttp://www.retina-international.org/files/sci-news/gntmut.htm

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GNAT1 gene:
    Search GeneIP for patents involving GNAT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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