Aliases for GNGT1 Gene
Aliases for GNGT1 Gene
External Ids for GNGT1 Gene
- HGNC: 4411
- Entrez Gene: 2792
- Ensembl: ENSG00000127928
- OMIM: 189970
- UniProtKB: P63211
Previous GeneCards Identifiers for GNGT1 Gene
- GC07P092071
- GC07P093114
- GC07P093147
- GC07P093180
- GC07P093373
- GC07P088143
- GC07P093220
Summaries 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 Translation Translation regulation by Alpha-1 adrenergic receptors. Gene Ontology (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.
-
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'.
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
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH07I093906 | Promoter | 0.5 | EPDnew | 550.1 | +315.0 | 314975 | 0.1 | GNGT1 BET1 ENSG00000278388 TFPI2 | ||
GH07I093623 | Enhancer | 0.7 | ENCODE | 0.3 | +31.2 | 31189 | 0.7 | CTCF ATF1 RAD21 ZNF335 CTBP1 GATA3 SMC3 CREM RFX1 ZNF654 | GNGT1 RPS27P17 | |
GH07I093622 | Enhancer | 0.6 | ENCODE | 0.3 | +30.6 | 30641 | 0.2 | CTCF ZNF654 ATF1 HLF CHD1 RAD21 ZNF335 ZNF217 SMC3 ZBTB17 | GNGT1 RPS27P17 | |
GH07I093889 | 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 | |
GH07I093669 | Promoter | 0.5 | Ensembl | 0.2 | +78.4 | 78428 | 0.4 | RPS27P17 GNGT1 |
Regulatory Element Products
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)
Genomic View for GNGT1 Gene
- Cytogenetic band:
-
- 7q21.3 by Ensembl
- 7q21.3 by Entrez Gene
- 7q21.3 by HGNC


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
- 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.
Protein Expression for GNGT1 Gene
Post-translational modifications for GNGT1 Gene
Other Protein References for GNGT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
Abcam proteins for GNGT1
Assay Products
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for GNGT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P63211- Family:
-
- Belongs to the G protein gamma family.
Function for GNGT1 Gene
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.
Phenotypes From GWAS Catalog 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 |
Phenotypes for GNGT1 Gene
- MGI mutant phenotypes for GNGT1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for GNGT1:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Synthetic lethal with Ras
- Mildly decreased CFP-tsO45G cell surface transport
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased shRNA abundance
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-
-
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-
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miRNA for GNGT1 Gene
- miRTarBase miRNAs that target GNGT1
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Inhibitory RNA Products
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for GNGT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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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.
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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNGT1 Gene
Pathways & Interactions for GNGT1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Development Angiotensin activation of ERK | ||
2 | G-Beta Gamma Signaling |
.46
.44
|
.37
|
3 | ADP signalling through P2Y purinoceptor 12 | ||
4 | Phototransduction | ||
5 | Presynaptic function of Kainate receptors |
Pathways by source for GNGT1 Gene
5 BioSystems pathways for GNGT1 Gene
59 Reactome pathways for GNGT1 Gene
17 KEGG pathways for GNGT1 Gene
34 GeneGo (Thomson Reuters) pathways for GNGT1 Gene
Interacting Proteins 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,TAS | -- |
GO:0007602 | phototransduction | IEA | -- |
GO:0008104 | protein localization | IEA | -- |
GO:0010659 | cardiac muscle cell apoptotic process | IEA | -- |
Drugs & Compounds for GNGT1 Gene
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
G-Protein antagonist peptide |
|
143675-79-0 |
|
|
(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 |
Transcripts for GNGT1 Gene
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
CRISPR Products
-
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Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for GNGT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||
SP2: | |||||||||||
SP3: | - |
Expression for GNGT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- nGnG Amacrine Cells Inner Nuclear Layer
- Mature Rod Cells Outer Nuclear Layer
- Retina
-
Neurons
- nGnG Amacrine Cells Inner Nuclear Layer
- Mature Rod Cells Outer Nuclear Layer
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for GNGT1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GNGT1 Gene
NURSA nuclear receptor signaling pathways regulating expression of GNGT1 Gene:
GNGT1SOURCE GeneReport for Unigene cluster for GNGT1 Gene:
Hs.732212mRNA Expression by UniProt/SwissProt for GNGT1 Gene:
P63211-GBG1_HUMANEvidence on tissue expression from TISSUES for GNGT1 Gene
- Blood(4.3)
- Nervous system(2.7)
- Eye(2.6)
Primer Products
-
OriGene qPCR primer pairs and template standards for GNGT1
-
OriGene qPCR primer pairs for GNGT1
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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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | GNGT1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | GNGT1 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | GNGT1 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Gngt1 33 |
|
||
mouse (Mus musculus) |
Mammalia | Gngt1 33 16 34 |
|
||
tropical clawed frog (Silurana tropicalis) |
Amphibia | gngt1 33 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.17547 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | gngt1 33 34 |
|
- 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)
Paralogs for GNGT1 Gene
Variants 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 |
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 |
Additional Variant Information 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
Disorder | Aliases | PubMed IDs |
---|---|---|
fructose-1,6-bisphosphatase deficiency |
|
|
retinitis pigmentosa |
|
|
Additional Disease Information for GNGT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for GNGT1 Gene
Publications for GNGT1 Gene
- 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
- 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
- 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
- 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
- Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 31 available GNGT1 Antibodies ranked by validation data
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Sources for GNGT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
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