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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GNAT1 Gene

protein-coding   GIFtS: 64
GCID: GC03P050229

guanine nucleotide binding protein (G protein), alpha transducing...
 Explore 16 diseases affiliated with
GNAT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GNAT1    

Aliases
for GNAT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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


Summaries
for GNAT1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GNAT1:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 plasmid: GNAT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GNAT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for GNAT1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11488

    • GNAT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000232461   ENSP00000387555   ENSP00000403537  
    Reactome Protein details: P11488
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IDA2534964
    GO:0001917photoreceptor inner segment IDA2534964
    GO:0005737cytoplasm IEA--
    GO:0005834heterotrimeric G-protein complex IBA--
    GO:0005886plasma membrane TAS--


    GNAT1 for ontologies           About GeneDecksing



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    ThermoFisher Antibody for GNAT1

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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for GNAT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GNAT1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001019 Gprotein_alpha_su
     IPR011025 GproteinA_insert
     IPR001408 Gprotein_alpha_I

    Graphical View of Domain Structure for InterPro Entry P11488

    ProtoNet protein and cluster: P11488

    2 Blocks protein families:
    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


    Function
    for GNAT1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GNAT1
    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate GNAT1 (see all 39):
    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 plasmid: GNAT1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: GNAT1
    OriGene siRNA: GNAT1
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000035acyl binding ISS--
    GO:0001664G-protein coupled receptor binding IBA--
    GO:0003924GTPase activity NAS17584859
    GO:0004871signal transducer activity IBA--
    GO:0005515protein binding ----


    GNAT1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for GNAT1:
     Decreased Salmonella enterica  

    Animal Models:
         Mouse knock-out Gnat1tm1Clma for GNAT1
         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


    Pathways & Interactions
    for GNAT1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/23 super-pathways (see all 23) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1G-Beta Gamma Signaling
    		G-Beta Gamma Signaling1.00
    		Relaxin Pathway0.32
    		GHRH Signaling0.46
    		Hedgehog Signaling in Mammals0.22
    		CRHR Pathway0.44
    2Rho Family GTPases
    		Rho Family GTPases1.00
    		Molecular Mechanisms of Cancer0.51
    		ERK Signaling0.61
    		MAPK Signaling0.51
    3CREB Pathway
    		CREB Pathway1.00
    		Activation of PKC through GPCR0.63
    		IP3 Pathway0.68
    		Intracellular Calcium Signaling0.50
    4Signaling by GPCR
    		Signaling by GPCR1.00
    		Signal Transduction0.56
    		GPCR downstream signaling0.89
    5Opioid Signalling
    		Opioid Signalling1.00
    		PLC beta mediated events0.54
    		G-protein mediated events0.55

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/35 Downloadable PowerPoint Slides of QIAGEN 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

    5/8        Reactome Pathways for GNAT1 (see all 8)
        GPCR downstream signaling
    G-protein activation
    G-protein mediated events
    PLC beta mediated events
    Signal Transduction


    1         Kegg Pathway  (Kegg details for GNAT1):
        Phototransduction


    GNAT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GNAT1

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

    5/57 Interacting proteins for GNAT1 (P114882, 3 ENSP000002324614) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    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): 5/19 biological process terms (GO ID links to tree view) (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:0006184GTP catabolic process ----
    GO:0007165signal transduction NAS8673138
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007188adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA--


    GNAT1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GNAT1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GNAT1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Mastoparan XG protein activator peptide[72093-22-2]
    G-Protein antagonist peptideInhibits G protein activation by GPCRs[143675-79-0]
    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

    Search CenterWatch for drugs/clinical trials and news about GNAT1 

    Transcripts
    for GNAT1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    hsa-miR-1321 hsa-let-7d hsa-miR-3921 hsa-let-7g hsa-let-7a hsa-miR-378 hsa-miR-98 hsa-miR-505
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    24/126 AceView cDNA sequences (see all 126):

    BM705146 BM687974 BM709837 BQ637667 BQ637453 BU732906 BQ639248 NM_000172 
    BQ639944 BQ636730 BX953950 BQ637444 BQ637578 BM662729 CB565937 BM686169 
    CD636903 BM692779 BQ635982 BM668242 CD636905 C20786 BQ638936 BQ640238 

    GeneLoc Exon Structure


    Expression
    for GNAT1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GNAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACGTGCGCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GNAT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Photoreceptor-like cells (Generation of retina...)Eye
    Photoreceptor-like cells (Generation of retina...)

    See GNAT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GNAT1

    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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    Orthologs
    for GNAT1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GNAT1 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 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 
    worm
    (Caenorhabditis elegans)    		 Secernentea gpa-73 guanine nucleotide-binding protein 49(a)
    (best of 13)    		   IV(10404194-10408441)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons XLG16
    XLG26
    (see all 4)    		 extra-large GTP-binding protein 2
    (see all 4)    		 9(a)
    8(a)
    (see all 4)    		 many ↔ many
    many ↔ many
    (see all 4)    		 2(9995478-9999122)
    4(16441179-16445005)
    rice
    (Oryza sativa)    		 Liliopsida XA76
    --
    (see all 5)    		 G-protein alpha subunit, putative, expressed
    (see all 5)    		 32(a)
    17(a)
    (see all 5)    		 many ↔ many
    many ↔ many
    (see all 5)    		 5(15552385-15556024)
    10(1125704-1130461)


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

    Paralogs
    for GNAT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GNAT1 gene
    GNAQ2  GNA142  GNA112  GNAI32  GNAT22  GNA132  GNAT32  GNAI22  
    GNA152  GNA122  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    GNAS    GNAL    GSA    WUGSC

    GNAT1 for paralogs           About GeneDecksing



    Genomic Variants
    for GNAT1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/127 NCBI SNPs in GNAT1 are shown (see all 127)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048937401,2
    		Cpathogenic82249063(+) TGCCGA/GTGAGT 4 D G mis10--------
    rs1439925421,2
    		--50227379(+) ACATAC/TAGGCA 2 -- us2k10--------
    rs1164228031,2
    		F,--50227462(+) TGCTCA/TGGTAC 2 -- us2k11Minor allele frequency- T:0.09WA 118
    rs1930065171,2
    		--50227581(+) ATTCAC/TACATG 2 -- us2k10--------
    rs1464106721,2
    		--50227601(+) GTGTAC/TACATG 2 -- us2k10--------
    rs1853203631,2
    		--50227719(+) CAAATC/GTGTCA 2 -- us2k10--------
    rs1883401171,2
    		--50227732(+) TTATTC/GCTCGC 2 -- us2k10--------
    rs98580591,2
    		C,F,A,--50227871(+) AACCCT/CGTCTC 2 -- us2k13Minor allele frequency- C:0.33NA WA 6
    rs1918709951,2
    		--50227907(+) TGGGTA/GTGGTG 2 -- us2k10--------
    rs1839030211,2
    		--50227923(+) TGCCCG/TTAATC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for GNAT1 (50229043 - 50235129 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for GNAT1
         7 CNVs: 4335 3429 53228 51108 30175 51107 51112
    Human Gene Mutation Database (HGMD): GNAT1

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    DNA2.0 Custom Variant and Variant Library Synthesis for GNAT1

    Disorders / Diseases
    for GNAT1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GNAT1 for disorders           About GeneDecksing

    OMIM gene information: 139330   
    OMIM disorders: 610444  
    UniProtKB/Swiss-Prot: GNAT1_HUMAN, P11488
  • 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

    16 diseases for GNAT1:    About MalaCards
    congenital stationary night blindness    night blindness    blindness    fundus albipunctatus
    retinitis pigmentosa    fainting    genetic disease    retinitis
    retinal disease    pertussis    pharyngitis    nasopharyngitis
    neuronitis    carcinoma    huntington's disease    breast cancer

    1 disease from the University of Copenhagen DISEASES database for GNAT1:
    Night blindness
    Human Genome Epidemiology (HuGE) Navigator: GNAT1 (2 documents)

    Export disorders for GNAT1 gene to outside databases

    Publications
    for GNAT1 gene

    (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)
    About This Section

    PubMed articles for GNAT1 gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with GNAT1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (2006)
    2. 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. (2004)
    3. 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. (2000)
    4. 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. (1996)
    5. Characterization of the human rod transducin alpha-subunit gene. (PubMed id 1614872)1, 2 Fong S.-L. (1992)
    6. 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. (1989)
    7. 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. (1989)
    8. 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. (2007)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. GNAT1 associated with autosomal recessive congenital s tationary night blindness. (PubMed id 22190596)1 Naeem M.A....Riazuddin S.A. (2012)

    External Searches for GNAT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GNAT1 gene

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

    Other Databases showing GNAT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GNAT1 gene

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

    Intellectual Property
    for GNAT1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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