GNGT1 (G protein subunit gamma transducin 1)

Gene

• Entrez ID: 2792
• Gene name: G protein subunit gamma transducin 1
• Gene symbol: GNGT1
• Synonyms (NCBI Gene): GNG1, HG3G1
• Chromosome: 7
• Chromosome location: 7q21.3
• Summary: 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) phosphodi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018996	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0003924	Function	GTPase activity	TAS	8661128
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 33961781
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	NAS	8661128
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007602	Process	Phototransduction	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0010659	Process	Cardiac muscle cell apoptotic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0031681	Function	G-protein beta-subunit binding	IBA
GO:0031681	Function	G-protein beta-subunit binding	IEA
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS

Other IDs

• MIM: 189970
• HGNC: 4411
• e!Ensembl: ENSG00000127928

Protein

• UniProt ID: P63211
• Protein name: Guanine nucleotide-binding protein G(T) subunit gamma-T1 (Transducin gamma chain)
• Protein 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 prote
• PDB: 7L0P, 7L0Q, 7L0R, 7L0S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00631	G-gamma	9 → 74	GGL domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Retinal rod outer segment.
• Sequence:

  MPVINIEDLTEKDKLKMEVDQLKKEVTLERMLVSKCCEEVRDYVEERSGEDPLVKGIPED
  KNPFKELKGGCVIS

• Sequence length: 74

Pathways

KEGG:

Ras signaling pathway
Chemokine signaling pathway
Hormone signaling
PI3K-Akt signaling pathway
Apelin signaling pathway
Circadian entrainment
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Phototransduction
Relaxin signaling pathway
Morphine addiction
Alcoholism
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer

Reactome:

Activation of G protein gated Potassium channels
G-protein activation
Activation of the phototransduction cascade
Inactivation, recovery and regulation of the phototransduction cascade
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Olfactory Signaling Pathway
ADP signalling through P2Y purinoceptor 12
G beta:gamma signalling through PI3Kgamma
Prostacyclin signalling through prostacyclin receptor
Adrenaline,noradrenaline inhibits insulin secretion
Ca2+ pathway
G alpha (q) signalling events
G alpha (12/13) signalling events
G beta:gamma signalling through PLC beta
G alpha (s) signalling events
ADP signalling through P2Y purinoceptor 1
G alpha (i) signalling events
G alpha (z) signalling events
Glucagon-type ligand receptors
Thromboxane signalling through TP receptor
Vasopressin regulates renal water homeostasis via Aquaporins
Thrombin signalling through proteinase activated receptors (PARs)
Presynaptic function of Kainate receptors
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
G beta:gamma signalling through BTK
G beta:gamma signalling through CDC42
Extra-nuclear estrogen signaling
ADORA2B mediated anti-inflammatory cytokines production
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	31211595		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	34220331	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	31161422	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29278617		★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	30760857	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31612059		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31612059		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	31161422	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34544905	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	GWASCAT_DG	29278617		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	39739972	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	GWASCAT_DG	29278617		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30760287	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	31161422	Associate	★☆☆☆☆ Found in Text Mining only