GNGT1 (G protein subunit gamma transducin 1)

Gene

• Entrez ID: 2792
• Gene name: G protein subunit gamma transducin 1
• Gene symbol: GNGT1
• Synonyms: 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:0001917	Component	Photoreceptor inner segment	IEA
GO:0003924	Function	GTPase activity	TAS	8661128
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005834	Component	Heterotrimeric G-protein complex	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	NAS	8661128
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0008104	Process	Protein localization	IEA
GO:0010659	Process	Cardiac muscle cell apoptotic process	IEA
GO:0016056	Process	Rhodopsin mediated signaling pathway	TAS
GO:0031680	Component	G-protein beta/gamma-subunit complex	IBA	21873635
GO:0031681	Function	G-protein beta-subunit binding	IBA	21873635
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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29278617
Neuropathy	Neuropathy	rs121913593, rs121913595, rs751050956, rs878853221, rs768554986, rs1553259568, rs1567973091, rs1560046845, rs1567969825, rs1567973088, rs756896276	29278617

Unknown
Disease name	Disease term	dbSNP ID	References
Nervous system diseases	Peripheral Nervous System Diseases		29278617