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Gene Gene information from NCBI Gene database.
Entrez ID 2792
Gene name G protein subunit gamma transducin 1
Gene symbol GNGT1
Synonyms (NCBI Gene)
GNG1HG3G1
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 miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT018996 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
189970 4411 ENSG00000127928
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 74
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Ras signaling pathway Activation of G protein gated Potassium channels
Chemokine signaling pathway G-protein activation
Hormone signaling Activation of the phototransduction cascade
PI3K-Akt signaling pathway Inactivation, recovery and regulation of the phototransduction cascade
Apelin signaling pathway Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Circadian entrainment Olfactory Signaling Pathway
Retrograde endocannabinoid signaling ADP signalling through P2Y purinoceptor 12
Glutamatergic synapse G beta:gamma signalling through PI3Kgamma
Cholinergic synapse Prostacyclin signalling through prostacyclin receptor
Serotonergic synapse Adrenaline,noradrenaline inhibits insulin secretion
GABAergic synapse Ca2+ pathway
Dopaminergic synapse G alpha (q) signalling events
Phototransduction G alpha (12/13) signalling events
Relaxin signaling pathway G beta:gamma signalling through PLC beta
Morphine addiction G alpha (s) signalling events
Alcoholism ADP signalling through P2Y purinoceptor 1
Human cytomegalovirus infection G alpha (i) signalling events
Kaposi sarcoma-associated herpesvirus infection G alpha (z) signalling events
Human immunodeficiency virus 1 infection Glucagon-type ligand receptors
Pathways in cancer 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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (10)
Phenotype Name Clinical Significance Source Reference Evidence Score
AUTISM SPECTRUM DISORDER — CTD 35663546
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog 37359372
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog 36252120
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION — GWAS catalog 35652341
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (14)
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