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GNGT1 Gene(Protein Coding)

G Protein Subunit Gamma Transducin 1

GCID:
GC07P093591
GIFtS:
58
Genes Participants
UDN Logo

Aliases for GNGT1 Gene

Aliases for GNGT1 Gene

  • G Protein Subunit Gamma Transducin 1 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Gamma Transducing Activity Polypeptide 1 2 3
  • Transducin Gamma Chain 3 4
  • Guanine Nucleotide-Binding Protein G(T) Subunit Gamma-T1 3
  • GNG1 3

External Ids for GNGT1 Gene

Previous GeneCards Identifiers for GNGT1 Gene

  • GC07P092071
  • GC07P093114
  • GC07P093147
  • GC07P093180
  • GC07P093373
  • GC07P088143
  • GC07P093220

Summaries for GNGT1 Gene

Entrez Gene Summary for GNGT1 Gene

  • This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]

GeneCards Summary for GNGT1 Gene

GNGT1 (G Protein Subunit Gamma Transducin 1) is a Protein Coding gene. Diseases associated with GNGT1 include Fructose-1,6-Bisphosphatase Deficiency and Retinitis Pigmentosa. Among its related pathways are Aquaporin-mediated transport and Immune response CCR3 signaling in eosinophils. GO annotations related to this gene include GTPase activity and signal transducer activity. An important paralog of this gene is GNG11.

UniProtKB/Swiss-Prot for GNGT1 Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

Tocris Summary for GNGT1 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 GNGT1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNGT1 Gene

Genomics for GNGT1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for GNGT1 Gene

Enhancers for GNGT1 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
GH07G093601 0.6 FANTOM5 0.4 +10.5 10507 0.2 POLR2H ZNF318 RNF2 CEBPB CREB1 VPS50 GNGT1 RPS27P17
GH07G093623 0.7 ENCODE 0.3 +31.2 31190 0.7 CTCF ZNF654 ATF1 RFX1 TEAD2 CHD1 RAD21 ZNF579 CTBP1 GATA3 GNGT1 RPS27P17
GH07G093622 0.6 ENCODE 0.3 +30.6 30641 0.2 CTCF ZNF654 ATF1 HLF SMC3 CHD1 RAD21 GNGT1 RPS27P17
GH07G093646 0.2 ENCODE 0.2 +55.2 55158 0.2 RPS27P17 GNGT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNGT1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GNGT1 gene promoter:

Genomic Location for GNGT1 Gene

Chromosome:
7
Start:
93,591,573 bp from pter
End:
93,911,265 bp from pter
Size:
319,693 bases
Orientation:
Plus strand

Genomic View for GNGT1 Gene

Genes around GNGT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNGT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNGT1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GNGT1 Gene

Proteins for GNGT1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for GNGT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P63211-GBG1_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(T) subunit gamma-T1
    Protein Accession:
    P63211
    Secondary Accessions:
    • A4D1H2
    • O43835
    • Q08447
    • Q16026
    • Q6LCP6

    Protein attributes for GNGT1 Gene

    Size:
    74 amino acids
    Molecular mass:
    8496 Da
    Quaternary structure:
    • G proteins are composed of 3 units, alpha, beta and gamma.

neXtProt entry for GNGT1 Gene

Protein Expression for GNGT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GNGT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GNGT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GNGT1 Gene

Domains & Families for GNGT1 Gene

Gene Families for GNGT1 Gene

HGNC:

Protein Domains for GNGT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GNGT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P63211

UniProtKB/Swiss-Prot:

GBG1_HUMAN :
  • Belongs to the G protein gamma family.
Family:
  • Belongs to the G protein gamma family.
genes like me logo Genes that share domains with GNGT1: view

Function for GNGT1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for GNGT1 Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),gamma 1 subunit,retinal rod phosphoreceptor
UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

Gene Ontology (GO) - Molecular Function for GNGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS 8661128
GO:0004871 signal transducer activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with GNGT1: view
genes like me logo Genes that share phenotypes with GNGT1: view

Animal Models for GNGT1 Gene

MGI Knock Outs for GNGT1:

Animal Model Products

CRISPR Products

miRNA for GNGT1 Gene

miRTarBase miRNAs that target GNGT1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GNGT1 Gene

Localization for GNGT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNGT1 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

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 GNGT1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GNGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0005834 heterotrimeric G-protein complex IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with GNGT1: view

Pathways & Interactions for GNGT1 Gene

genes like me logo Genes that share pathways with GNGT1: view

SIGNOR curated interactions for GNGT1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 8661128
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007602 phototransduction IEA --
GO:0008104 protein localization IEA --
GO:0010659 cardiac muscle cell apoptotic process IEA --
genes like me logo Genes that share ontologies with GNGT1: view

Drugs & Compounds for GNGT1 Gene

Products:

  1. Drug

(3) Drugs for GNGT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(6) Additional Compounds for GNGT1 Gene - From: Novoseek and 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 GNGT1 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 GNGT1: view

Transcripts for GNGT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for GNGT1 Gene

(3) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(42) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GNGT1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNGT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4
SP1: -
SP2:
SP3: -

Relevant External Links for GNGT1 Gene

GeneLoc Exon Structure for
GNGT1
ECgene alternative splicing isoforms for
GNGT1

Expression for GNGT1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNGT1 Gene

mRNA expression in normal human tissues for GNGT1 Gene
mRNA expression by BioGPS for GNGT1 GenemRNA expression by GTEx for GNGT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNGT1 Gene

This gene is overexpressed in Kidney - Cortex (x14.0), Ovary (x12.2), Bladder (x7.5), and Testis (x6.6).

Protein differential expression in normal tissues from HIPED for GNGT1 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GNGT1 Gene



Protein tissue co-expression partners for GNGT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GNGT1 Gene:

GNGT1

SOURCE GeneReport for Unigene cluster for GNGT1 Gene:

Hs.732212

mRNA Expression by UniProt/SwissProt for GNGT1 Gene:

P63211-GBG1_HUMAN
Tissue specificity: Retinal rod outer segment.

Evidence on tissue expression from TISSUES for GNGT1 Gene

  • Blood(4.3)
  • Nervous system(2.7)
  • Eye(2.6)
genes like me logo Genes that share expression patterns with GNGT1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GNGT1 Gene

Orthologs for GNGT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GNGT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia GNGT1 34 35
  • 99.55 (n)
dog
(Canis familiaris)
 Mammalia GNGT1 34 35
  • 94.59 (n)
cow
(Bos Taurus)
 Mammalia GNGT1 34 35
  • 93.69 (n)
rat
(Rattus norvegicus)
 Mammalia Gngt1 34
  • 88.29 (n)
mouse
(Mus musculus)
 Mammalia Gngt1 34 16 35
  • 87.39 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia gngt1 34
  • 77.63 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.17547 34
zebrafish
(Danio rerio)
 Actinopterygii gngt1 34 35
  • 71.3 (n)
Species where no ortholog for GNGT1 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GNGT1 Gene

ENSEMBL:
Gene Tree for GNGT1 (if available)
TreeFam:
Gene Tree for GNGT1 (if available)

Paralogs for GNGT1 Gene

Paralogs for GNGT1 Gene

(9) SIMAP similar genes for GNGT1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for GNGT1 Gene

genes like me logo Genes that share paralogs with GNGT1: view

Variants for GNGT1 Gene

Sequence variations from dbSNP and Humsavar for GNGT1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs193921133 Uncertain significance 93,906,843(+) TGCTA(A/G)TAAGT splice-donor-variant
rs1000114264 -- 93,905,467(+) GCTGA(A/G)GCAGA upstream-variant-2KB
rs1000316505 -- 93,908,379(+) CTGGG(A/G)CATCC intron-variant
rs1000792484 -- 93,908,096(+) GTTCA(C/T)CTTGG intron-variant
rs1001137621 -- 93,908,478(+) TGATA(A/G)GGATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GNGT1 Gene

Variant ID Type Subtype PubMed ID
dgv11511n54 CNV gain 21841781
nsv1023193 CNV gain 25217958
nsv1140378 OTHER inversion 24896259
nsv511379 CNV loss 21212237
nsv607849 CNV gain 21841781
nsv607850 CNV gain 21841781

Variation tolerance for GNGT1 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNGT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNGT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNGT1 Gene

Disorders for GNGT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GNGT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
fructose-1,6-bisphosphatase deficiency
  • fructose 1 phosphate aldolase deficiency
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search GNGT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GNGT1

Genetic Association Database (GAD)
GNGT1
Human Genome Epidemiology (HuGE) Navigator
GNGT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNGT1
genes like me logo Genes that share disorders with GNGT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNGT1 Gene

Publications for GNGT1 Gene

  1. Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1). (PMID: 8661128) Scherer S.W. … Pittler S.J. (Genomics 1996) 2 3 4 22 64
  2. Structure of the bovine transducin gamma subunit gene and analysis of promoter function in transgenic mice. (PMID: 8500562) Tao L. … Fong H.K. (Exp. Eye Res. 1993) 3 4 22 64
  3. Genome-wide association study of lung function decline in adults with and without asthma. (PMID: 22424883) Imboden M. … Probst-Hensch N.M. (J. Allergy Clin. Immunol. 2012) 3 46 64
  4. 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
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64

Products for GNGT1 Gene

Sources for GNGT1 Gene

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