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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 Presynaptic function of Kainate receptors and G-protein signaling G-Protein alpha-i signaling cascades. Gene Ontology (GO) annotations related to this gene include GTPase activity and obsolete 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for GNGT1 Gene

Promoters and enhancers for GNGT1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J093591 Promoter 1.1 EPDnew 650.7 -0.1 -128 0.1 HDAC1 ATF1 TAF9B RB1 NFRKB ZNF335 POLR2B EGR1 EGR2 PHF21A GNGT1 PIR34397
GH07J093906 Promoter 0.5 EPDnew 650.1 +315.0 314975 0.1 GNGT1 BET1 ENSG00000278388 TFPI2
GH07J093623 Enhancer 0.7 ENCODE 0.3 +31.2 31189 0.7 CTCF ATF1 RAD21 ZNF335 CTBP1 GATA3 SMC3 CREM RFX1 ZNF654 GNGT1 RPS27P17
GH07J093622 Enhancer 0.6 ENCODE 0.3 +30.6 30641 0.2 CTCF ZNF654 ATF1 HLF CHD1 RAD21 ZNF335 ZNF217 SMC3 ZBTB17 GNGT1 RPS27P17
GH07J093889 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 0.1 +298.9 298871 2.1 KLF17 SIN3A ZNF335 GLIS2 EGR1 ZNF366 SCRT2 RCOR1 FOS EGR2 LOC105375401 TFPI2 GNG11 GC07M093797 GNGT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNGT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNGT1 gene promoter:
  • STAT5B
  • Nkx3-1 v4
  • Nkx3-1 v3
  • Nkx3-1 v2
  • Nkx3-1 v1
  • Nkx3-1
  • POU3F2
  • FOXD1
  • ER-alpha
  • GATA-1

Genomic Locations for GNGT1 Gene

Genomic Locations for GNGT1 Gene
319,693 bases
Plus strand
319,693 bases
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 StructureGene Density

RefSeq DNA sequence for GNGT1 Gene

Proteins for GNGT1 Gene

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

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

    Protein attributes for GNGT1 Gene

    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

Post-translational modifications for GNGT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GNGT1 Gene

No data available for DME Specific Peptides for GNGT1 Gene

Domains & Families for GNGT1 Gene

Gene Families for GNGT1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GNGT1 Gene

Suggested Antigen Peptide Sequences for GNGT1 Gene

Graphical View of Domain Structure for InterPro Entry



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

Function for GNGT1 Gene

Molecular function for GNGT1 Gene

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.
GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),gamma 1 subunit,retinal rod phosphoreceptor

Phenotypes From GWAS Catalog for GNGT1 Gene

Gene Ontology (GO) - Molecular Function for GNGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS 8661128
GO:0004871 obsolete 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

miRNA for GNGT1 Gene

miRTarBase miRNAs that target GNGT1

Clone 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

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNGT1 Gene

Pathways & Interactions for GNGT1 Gene

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

SIGNOR curated interactions for GNGT1 Gene

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

(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: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
G-Protein antagonist peptide
Gue 1654
SCH 202676 hydrobromide

(5) Tocris Compounds for GNGT1 Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Gue 1654 Selective inhibitor of OXE-R Gbetagamma signaling 397290-30-1
Mastoparan Activates Gi and Go 72093-21-1
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNGT1: view

Transcripts for GNGT1 Gene

mRNA/cDNA for GNGT1 Gene

Unigene Clusters for GNGT1 Gene

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

Clone Products

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

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

Relevant External Links for GNGT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GNGT1 Gene

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

Protein tissue co-expression partners for GNGT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GNGT1 Gene:


SOURCE GeneReport for Unigene cluster for GNGT1 Gene:


mRNA Expression by UniProt/SwissProt for GNGT1 Gene:

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

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
(Pan troglodytes)
Mammalia GNGT1 34 33
  • 99.55 (n)
(Canis familiaris)
Mammalia GNGT1 34 33
  • 94.59 (n)
(Bos Taurus)
Mammalia GNGT1 34 33
  • 93.69 (n)
(Rattus norvegicus)
Mammalia Gngt1 33
  • 88.29 (n)
(Mus musculus)
Mammalia Gngt1 16 34 33
  • 87.39 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gngt1 33
  • 77.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17547 33
(Danio rerio)
Actinopterygii gngt1 34 33
  • 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

Gene Tree for GNGT1 (if available)
Gene Tree for GNGT1 (if available)
Evolutionary constrained regions (ECRs) for GNGT1: view image

Paralogs for GNGT1 Gene

Paralogs for GNGT1 Gene

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

  • C9JGI9_HUMAN 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 Variation AA Info Type
rs193921133 uncertain-significance, Malignant tumor of prostate 93,906,843(+) G/A splice_donor_variant
rs1000114264 -- 93,905,467(+) G/A upstream_transcript_variant
rs1000316505 -- 93,908,379(+) G/A intron_variant
rs1000792484 -- 93,908,096(+) C/T intron_variant
rs1001137621 -- 93,908,478(+) G/A 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)

Additional Variant Information for GNGT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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
  • fbp1d
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

Additional Disease Information for GNGT1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 SW … Pittler SJ (Genomics 1996) 2 3 4 22 58
  2. Structure of the bovine transducin gamma subunit gene and analysis of promoter function in transgenic mice. (PMID: 8500562) Tao L … Fong HK (Experimental eye research 1993) 3 4 22 58
  3. Genome-wide association study of lung function decline in adults with and without asthma. (PMID: 22424883) Imboden M … Probst-Hensch NM (The Journal of allergy and clinical immunology 2012) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58

Products for GNGT1 Gene

Sources for GNGT1 Gene

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