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GNGT1 Gene

protein-coding GIFtS: 60
GCID: GC07P093220

Guanine Nucleotide Binding Protein (G Protein), Gamma Transducing...

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Guanine Nucleotide Binding Protein (G Protein), Gamma Transducing Activity Polypeptide 1¹ ²
Transducin Gamma Chain² ³
GNG1²
Guanine Nucleotide-Binding Protein G(T) Subunit Gamma-T1²

External Ids:	HGNC: 4411¹	Entrez Gene: 2792²	Ensembl: ENSG00000127928⁷	OMIM: 189970⁵	UniProtKB: P63211³

Export aliases for GNGT1 gene to outside databases

Previous GC identifers: GC07P092071 GC07P093114 GC07P093147 GC07P093180 GC07P093373 GC07P088143

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GNGT1 Gene:

Heterotrimeric guanine nucleotide-binding proteins (G proteins) transduce extracellular signals received by

transmembrane receptors to effector proteins. Transducin is a guanine nucleotide-binding protein found

specifically in rod outer segments, where it mediates activation by rhodopsin of a cyclic GTP-specific (guanosine

monophosphate) phosphodiesterase. Transducin is also referred to as GMPase. GNGT1 encodes the gamma subunit of

transducin (Hurley et al., 1984 (PubMed 6438626); Scherer et al., 1996 (PubMed 8661128)).(supplied by OMIM, Mar

2008)

GeneCards Summary for GNGT1 Gene:

GNGT1 (guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1) is a protein-coding gene. Diseases associated with GNGT1 include retinitis pigmentosa, and huntington's disease. GO annotations related to this gene include GTPase activity and signal transducer activity. An important paralog of this gene is GNG11.

UniProtKB/Swiss-Prot: GBG1_HUMAN, P63211

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

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-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; in addition, some

Gbetagamma subunits have active functions. Gbetagamma coupled to H1 receptors can activate PLA2 and

Gbetagamma coupled to M1 receptors can activate KIR channels.

Gene Wiki entry for GNGT1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:

Regulatory transcription factor binding sites in the GNGT1 gene promoter:
ER-alpha Nkx3-1 STAT5B Nkx3-1 v4 FOXD1 Nkx3-1 v1 POU3F2 GATA-1 Nkx3-1 v2 Nkx3-1 v3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see first 1): GNGT1 promoter sequences (S715398 S715602 S716800)

Search Chromatin IP Primers for GNGT1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNGT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21.3 Ensembl cytogenetic band: 7q21.3 HGNC cytogenetic band: 7q21.3

GNGT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNGT1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P093220: view genomic region (about GC identifiers)

Start:	93,220,885 bp from pter	End:	93,540,577 bp from pter
Size:	319,693 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 92,864,986-92,869,650

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GBG1_HUMAN, P63211 (See protein sequence)

Recommended Name: Guanine nucleotide-binding protein G(T) subunit gamma-T1 precursor

Size: 74 amino acids; 8496 Da

Subunit: G proteins are composed of 3 units, alpha, beta and gamma

Secondary accessions: A4D1H2 O43835 Q08447 Q16026 Q6LCP6

Explore the universe of human proteins at neXtProt for GNGT1: NX_P63211

Explore proteomics data for GNGT1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See GNGT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_068774.1

ENSEMBL proteins:

ENSP00000395857 ENSP00000248572 ENSP00000388777 ENSP00000395756 ENSP00000401781

Reactome Protein details: P63211

GNGT1 Human Recombinant Protein Products:

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	Novus Biologicals GNGT1 Protein Novus Biologicals GNGT1 Lysate
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	Browse Proteins at Cloud-Clone Corp.

GNGT1 Antibody Products:

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	Novus Biologicals GNGT1 Antibodies
	Abcam antibodies for GNGT1
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	Search ThermoFisher Antibodies for GNGT1
	LSBio Antibodies in human, mouse, rat for GNGT1

GNGT1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for GNGT1
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	GenScript Custom Assay Services for GNGT1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:

IPR001770 Gprotein-gamma

IPR015898 G-protein_gamma-like_dom

Graphical View of Domain Structure for InterPro Entry P63211

ProtoNet protein and cluster: P63211

UniProtKB/Swiss-Prot: GBG1_HUMAN, P63211

Similarity: Belongs to the G protein gamma family

GNGT1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: GBG1_HUMAN, P63211

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 entry for GNGT1:

guanine nucleotide binding protein (G protein),gamma 1 subunit,retinal rod phosphoreceptor

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003924	GTPase activity	TAS	8661128
GO:0004871	signal transducer activity	IEA	--

GNGT1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for GNGT1:

Synthetic lethal with Ras

3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Gngt1):

homeostasis/metabolism

nervous system

vision/eye

GNGT1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Gngt1^tm1Ogk for GNGT1

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNGT1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GNGT1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNGT1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNGT1

miRNA Products:		miRTarBase miRNAs that target GNGT1: hsa-mir-335-5p (MIRT018996)

		Block miRNA regulation of human, mouse, rat GNGT1 using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate GNGT1
		SwitchGear 3'UTR luciferase reporter plasmid: GNGT1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for GNGT1
		Predesigned siRNA for gene silencing in human, mouse, rat GNGT1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for GNGT1

Clone Products:		OriGene clones in human, mouse for GNGT1 (see all 6) OriGene ORF clones in mouse, rat for GNGT1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: GNGT1 (NM_021955)
		Sino Biological Human cDNA Clone for GNGT1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNGT1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNGT1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GNGT1
		Browse ESI BIO Cell Lines and PureStem Progenitors for GNGT1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNGT1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

GBG1_HUMAN, P63211: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)

Subcellular locations from COMPARTMENTS:

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

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Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001750	photoreceptor outer segment	--	--
GO:0001917	photoreceptor inner segment	IEA	--
GO:0005834	heterotrimeric G-protein complex	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0097381	photoreceptor disc membrane	TAS	--

GNGT1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for GNGT1 About (see all 61)

See pathways by source

SuperPath

Selected contained pathways About (see all per SuperPath)

The phototransduction cascade

The phototransduction cascade	0.51	Inactivation, recovery and regulation of the phototransduction cascade	0.49
Visual signal transduction- Rods	0.51	Activation of the phototransduction cascade	0.00
Phototransduction	0.51

ADP signalling through P2Y purinoceptor 12

G-protein beta-gamma signalling	0.90	G-protein activation	0.74
G beta-gamma signalling through PI3Kgamma	0.90	Thrombin signalling through proteinase activated receptors (PARs)	0.69
Signal amplification	0.79	Activation of Kainate Receptors upon glutamate binding	0.68
ADP signalling through P2Y purinoceptor 1	0.79	Inhibition of Insulin Secretion by Adrenaline/Noradrenaline	0.64

fMLP Pathway

	fMLP Pathway	0.43			Alpha-Adrenergic Signaling	0.38
	Signal transduction Activation of PKC via G Protein coupled receptor	0.42			Huntington's Disease Pathway	0.30

EphB-EphrinB Signaling

	EphB-EphrinB Signaling	0.58			Cytoskeleton remodeling Reverse signaling by ephrin B	0.34
	Ephrin-Eph Signaling	0.58

Regulation of Water Balance by Renal Aquaporins

	Regulation of Water Balance by Renal Aquaporins	0.85			Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation	0.40
	Aquaporin-mediated transport	0.85

Pathways by source See SuperPaths
Show all pathways

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GNGT1 (see all 47)

	Molecular Mechanisms of Cancer
	Intracellular Calcium Signaling
	CDK5 Pathway
	JNK Pathway
	ERK5 Signaling

Selected GeneGo (Thomson Reuters) Pathways for GNGT1 (see all 34)

	Signal transduction cAMP signaling
	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
	G-protein signaling G-Protein alpha-i signaling cascades
	Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions
	Signal transduction Activation of PKC via G-Protein coupled receptor

5 BioSystems Pathways for GNGT1

	Myometrial Relaxation and Contraction Pathways
	Estrogen signaling pathway
	G Protein Signaling Pathways
	Calcium Regulation in the Cardiac Cell
	Visual signal transduction- Rods

Selected Reactome Pathways for GNGT1 (see all 24)

	G alpha (12/13) signalling events
	Inactivation, recovery and regulation of the phototransduction cascade
	G alpha (z) signalling events
	Olfactory Signaling Pathway
	Activation of the phototransduction cascade

Selected Kegg Pathways (Kegg details for GNGT1) (see all 13):

	Ras signaling pathway
	Chemokine signaling pathway
	PI3K-Akt signaling pathway
	Circadian entrainment
	Retrograde endocannabinoid signaling

GNGT1 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Array including GNGT1:

Alzheimer's Disease in human mouse rat

Interactions:

GeneGlobe Interaction Network for GNGT1

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

Selected Interacting proteins for GNGT1 (P63211³ ENSP00000248572⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 343)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GNB1	P62873³, ENSP00000367872⁴	I2D: score=2 STRING: ENSP00000367872
GNAS	Q5JWF2³, ENSP00000360141⁴	I2D: score=1 STRING: ENSP00000360141
IKBKG	Q9Y6K9³, ENSP00000358622⁴	I2D: score=1 STRING: ENSP00000358622
PLEKHB1	Q9UF11³, ENSP00000346127⁴	I2D: score=1 STRING: ENSP00000346127
NAGA	P17050³, ENSP00000379680⁴	I2D: score=1 STRING: ENSP00000379680

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Gene Ontology (GO): Selected biological process terms (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006184	GTP catabolic process	TAS	8661128
GO:0007165	signal transduction	NAS	8661128
GO:0007186	G-protein coupled receptor signaling pathway	--	--
GO:0007268	synaptic transmission	TAS	--
GO:0007602	phototransduction	--	--

GNGT1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Compounds for GNGT1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Gallein	Inhibitor of betagamma signaling	[2103-64-2]
Suramin hexasodium salt	Non-selective P2 antagonist	[129-46-4]
G-Protein antagonist peptide	Inhibits G protein activation by GPCRs	[143675-79-0]
8-Bromo-cGMP, sodium salt	cGMP analog; activates PKG	[51116-01-9]
Pertussis Toxin	Catalyzes ADP-ribosylation of Gi, Go and Gt	[70323-44-3]

3 HMDB Compounds for GNGT1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

1 DrugBank Compound for GNGT1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
FARNESYL	--	--	target	--	10592235

1 Novoseek inferred chemical compound relationship for GNGT1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
metarhodopsin ii	78.9	1	1935895 (1)

GNGT1 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for GNGT1 gene:

NM_021955.3

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000455502(uc003umx.1) ENST00000248572(uc003unc.1) ENST00000429473

ENST00000430875 ENST00000428834

miRNA Products:		Block miRNA regulation of human, mouse, rat GNGT1 using miScript Target Protectors
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		Predesigned siRNA for gene silencing in human, mouse, rat GNGT1

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		GenScript: all cDNA clones in your preferred vector: GNGT1 (NM_021955)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNGT1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNGT1

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		QuantiFast Probe-based Assays in human, mouse, rat GNGT1

Selected AceView cDNA sequences (see all 42):

AA015841 S62027 AF493869 AA019183 BM719352 BQ637754 BX281635 BM692469

BQ185551 H38114 CR456912 AA365936 BX509917 BU753913 AA364434 BQ189000

NM_021955 CD622858 BM664051 AA018874 BG435040 BC029367 BQ184407 BX434135

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for GNGT1 About this scheme

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

ECgene alternative splicing isoforms for GNGT1

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GNGT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TACGTGAATT

About this image

GNGT1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 3) fully expand


Eye (Sensory Organs) fully expand to see all 3 entries
nGnG Amacrine Cells Inner Nuclear Layer
Retina

Neurons
nGnG Amacrine Cells Inner Nuclear Layer

Ovary (Reproductive System)

GNGT1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

GNGT1 Protein Expression

UniProtKB/Swiss-Prot: GBG1_HUMAN, P63211

Tissue specificity: Retinal rod outer segment

Pathway & Disease-focused RT² Profiler PCR Array including GNGT1:

Alzheimer's Disease in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for GNGT1 OriGene qSTAR qPCR primer pairs in human, mouse for GNGT1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat GNGT1
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		QuantiFast Probe-based Assays in human, mouse, rat GNGT1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNGT1

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for GNGT1 gene from Selected species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Gngt1^{1 , 5}	guanine nucleotide binding protein (G protein), gamma more^{1, 5}	87.39(n)¹ 97.3(a)¹	6 (1.81 cM)⁵ 14699¹ NM_010314.2¹ NP_034444.1¹ 3993797⁵
African clawed frog (Xenopus laevis)	Amphibia	Xl.17547²	Xenopus laevis transcribed sequence with moderate similarity more	78.03(n)	BG812771.1
zebrafish (Danio rerio)	Actinopterygii	gngt1¹	guanine nucleotide binding protein (G protein), gamma more	71.3(n) 68.06(a)	335656 NM_199967.1 NP_956261.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for GNGT1 gene

GNG11² GNGT2²

9 SIMAP similar genes for GNGT1 using alignment to 2 protein entries: GBG1_HUMAN (see all proteins):

GNG11 GNGT2 GNG12 GNG7 GNG10 GNG2

GNG3 GNG4 GNG8

GNGT1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for GNGT1
PGOHUM00000233472

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs180278^1,2	C,F,A,H	--	93533839(-)	`ATTTGG/ACTCCT`	1	--	us2k¹ tfbs³		15		EA NA WA CSA	588
rs73412379^1,2	C,F	--	93533870(+)	`TAAGTG/TTATCA`	1	--	us2k¹		3		WA CSA	122
rs192693403^1,2		--	93533969(+)	`GGAAGC/TACAAC`	1	--	us2k¹		0	--	--	--	--
rs140984837^1,2	C	--	93533999(+)	`AACACA/GTGCAA`	1	--	us2k¹		0	--	--	--	--
rs184180936^1,2		--	93534024(+)	`CTACAC/TGCCAT`	1	--	us2k¹		0	--	--	--	--
rs1858827^1,2	C,F,A,H	--	93534072(-)	`GATTTT/GTTGAG`	1	--	us2k¹		13		NS EA NA WA	778
rs149836683^1,2		--	93534130(+)	`ACAGGC/TAGGTC`	1	--	us2k¹		0	--	--	--	--
rs12668592^1,2	C,H	--	93534205(+)	`TATGAA/GAGGGC`	1	--	us2k¹		0	--	--	--	--
rs148541555^1,2		--	93534243(+)	`AAACCC/TAACAC`	1	--	us2k¹		0	--	--	--	--
rs142863204^1,2		--	93534288(+)	`TCATAA/TCTTTA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GNGT1 (93220885 - 93470885 bp, first 250kb of GNGT1)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for GNGT1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv511379	CNV	Loss	21212237

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 189970 OMIM disorders: --

10 diseases for GNGT1:
About MalaCards

retinitis pigmentosa huntington's disease retinitis hypoxia

pertussis colorectal cancer alzheimer's disease asthma

breast cancer neuronitis

GNGT1 for disorders About GeneDecksing

Genetic Association Database (GAD): GNGT1
Human Genome Epidemiology (HuGE) Navigator: GNGT1 (1 document)

Export disorders for GNGT1 gene to outside databases

(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)
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PubMed articles for GNGT1 gene, integrated from 10 sources (see all 38):
(articles sorted by number of sources associating them with GNGT1)

Utopia: connect your pdf to the dynamic
world of online information

Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1). (PubMed id 8661128)^{1, 2, 3, 9} Scherer S.W.... Pittler S.J. (Genomics 1996)
Structure of the bovine transducin gamma subunit gene and analysis of promoter function in transgenic mice. (PubMed id 8500562)^{1, 2, 9} Tao L.... Fong H.K. (Exp. Eye Res. 1993)
Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)^{1, 4} Imboden M....Probst-Hensch N.M. (J. Allergy Clin. Immunol. 2012)
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. (Genome Res. 2004)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{1, 2} Scherer S.W.... Tsui L.-C. (Science 2003)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (Nature 2003)
[Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa]. (PubMed id 15901556)^{1, 4} Zhang Q.J....Guo X.M. (Yi Chuan 2002)
IGF-1 activates a cilium-localized noncanonical GI^I^ signaling pathway that regulates cell-cycle progression. (PubMed id 23954591)¹ Yeh C....Sung C.H. (Dev. Cell 2013)
The WD40 repeat protein WDR26 binds GI^I^ and promotes GI^I^-dependent signal transduction and leukocyte migration. (PubMed id 22065575)¹ Sun Z....Chen S. (J. Biol. Chem. 2011)
Expanding the substantial interactome of NEMO using protein microarrays. (PubMed id 20098747)¹ Fenner B.J....Prehn J.H. (PLoS ONE 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2792	HGNC: 4411	AceView: GNGT1	Ensembl:ENSG00000127928	euGenes: HUgn2792
ECgene: GNGT1	Kegg: 2792	H-InvDB: GNGT1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GNGT1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GNGT1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GNGT1 gene:
Search GeneIP for patents involving GNGT1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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