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] See more...

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
  • Guanine Nucleotide-Binding Protein G(T) Subunit Gamma-T1 3 4
  • Transducin Gamma Chain 3 4
  • GNG1 2 3
  • GNGT1 5

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 Night Blindness, Congenital Stationary, Autosomal Dominant 2 and Tuberculous Salpingitis. Among its related pathways are Translation Translation regulation by Alpha-1 adrenergic receptors and Sweet Taste Signaling. 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 Summary 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 , Rfam classification and piRNA Summary for GNGT1 Gene

Genomics for GNGT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GNGT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J093591 Promoter 1.4 EPDnew Ensembl 600.7 +0.8 828 2.8 PRDM10 IKZF1 JUND PHF21A KAT8 BRD9 DPF2 HDAC1 ZNF341 SCRT2 GNGT1 piR-52368-151 piR-41245-262 TFPI2
GH07J093906 Promoter 0.3 EPDnew 600.1 +315.0 314975 0.1 HSALNG0059592 GNGT1 BET1 TFPI2 TFPI2-DT GNG11
GH07J093629 Enhancer 0.5 Ensembl 11.5 +37.9 37928 0.2 PKNOX1 NFIC NFIB MEIS2 LCORL GNGT1 piR-41245-262 lnc-CALCR-1 TFPI2
GH07J093636 Enhancer 0.5 Ensembl 10.6 +45.1 45128 0.6 TAL1 ATF2 TEAD4 CBFA2T3 ARID1B GNGT1 MIR489 MIR653 piR-41245-262 lnc-CALCR-1 TFPI2
GH07J093620 Enhancer 0.4 Ensembl 11.3 +29.3 29328 0.2 FOXJ2 MEF2D MEIS2 TEAD4 GNGT1 piR-41245-262 lnc-CALCR-1 TFPI2
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNGT1

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

Genomic Locations for GNGT1 Gene

Genomic Locations for GNGT1 Gene
chr7:93,591,573-93,911,265
(GRCh38/hg38)
Size:
319,693 bases
Orientation:
Plus strand
chr7:93,220,885-93,540,577
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for GNGT1 Gene

Proteins for GNGT1 Gene

  • 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

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GNGT1 Gene

Suggested Antigen Peptide Sequences for GNGT1 Gene

GenScript: Design optimal peptide antigens:
  • Transducin gamma chain (GBG1_HUMAN)
  • Photoreceptor transducin gamma subunit (Q6LCP6_HUMAN)

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

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 IEA --
GO:0005515 protein binding IPI 25416956
GO:0031681 G-protein beta-subunit binding IBA 21873635
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNGT1

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 4
extracellular 3
cytosol 3
nucleus 2
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GNGT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0005834 heterotrimeric G-protein complex IEA,IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
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

PathCards logo

SuperPathways for GNGT1 Gene

SuperPathway Contained pathways
1 Development Angiotensin activation of ERK
.73
.73
.68
.65
.54
.48
.45
.40
2 G-Beta Gamma Signaling
.46
.46
.44
.37
.32
.30
3 ADP signalling through P2Y purinoceptor 12
.43
4 Phototransduction
5 Presynaptic function of Kainate receptors
genes like me logo Genes that share pathways with GNGT1: view

Pathways by source for GNGT1 Gene

34 GeneGo (Thomson Reuters) pathways for GNGT1 Gene
  • Apoptosis and survival BAD phosphorylation
  • Cell adhesion Integrin inside-out signaling
  • Chemotaxis CXCR4 signaling pathway
  • Cytoskeleton remodeling Reverse signaling by ephrin B
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
47 Qiagen pathways for GNGT1 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR

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,IBA 21873635
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
89430-38-6
G-Protein antagonist peptide
143675-79-0
Gue 1654
397290-30-1
mastoparan
72093-21-1
SCH 202676 hydrobromide
265980-25-4

(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

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNGT1

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

Expression for GNGT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Nervous system(3.4)
  • Eye(3.2)
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
Chimpanzee
(Pan troglodytes)
Mammalia GNGT1 30 31
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GNGT1 30 31
  • 94.59 (n)
ManyToMany
Cow
(Bos Taurus)
Mammalia GNGT1 30 31
  • 93.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gngt1 30
  • 88.29 (n)
Mouse
(Mus musculus)
Mammalia Gngt1 30 17 31
  • 87.39 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gngt1 30
  • 77.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17547 30
Zebrafish
(Danio rerio)
Actinopterygii gngt1 30 31
  • 71.3 (n)
OneToMany
Species where no ortholog for GNGT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
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:

  • GBG1_HUMAN
  • C9JGI9_HUMAN

Pseudogenes.org Pseudogenes for GNGT1 Gene

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

Variants for GNGT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNGT1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs193921133 Uncertain Significance: Malignant tumor of prostate 93,906,843(+) G/A SPLICE_DONOR_VARIANT
rs17243826 - p.Glu50Lys

Additional dbSNP identifiers (rs#s) for GNGT1 Gene

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
GNGT1

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

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

Disorder Aliases PubMed IDs
night blindness, congenital stationary, autosomal dominant 2
  • csnbad2
tuberculous salpingitis
retinitis pigmentosa
  • retinitis pigmentosa 1
fundus dystrophy
  • retinal dystrophy
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  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 23
  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 41
  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
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4

Products for GNGT1 Gene

Sources for GNGT1 Gene