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GNB1 (G protein subunit beta 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2782
Gene nameGene Name - the full gene name approved by the HGNC.
G protein subunit beta 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GNB1
SynonymsGene synonyms aliases
HG2A, MDS, MRD42
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.33
SummarySummary of gene provided in NCBI Entrez Gene.
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene enc
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs752746786 A>C,G,T Pathogenic, likely-pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs758432471 C>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs869312821 T>C Pathogenic, likely-pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs869312822 A>C Pathogenic, likely-pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs869312823 T>C Pathogenic, likely-pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023929 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT027151 hsa-miR-103a-3p Sequencing 20371350
MIRT027365 hsa-miR-101-3p Sequencing 20371350
MIRT031864 hsa-miR-16-5p Sequencing 20371350
MIRT031864 hsa-miR-16-5p Microarray 21199864
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001917 Component Photoreceptor inner segment IEA
GO:0003924 Function GTPase activity IDA 1543505
GO:0005515 Function Protein binding IPI 16782902, 17500595, 23739333, 32296183, 32814053
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005765 Component Lysosomal membrane HDA 17897319
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P62873
Protein name Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 (Transducin beta chain 1)
Protein function Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems (PubMed:29925951, PubMed:33762731, PubMed:34239069, PubMed:35610220, PubMed:35714614, PubMed:35835867, PubMed:3
PDB 4KFM , 4PNK , 5HE0 , 5HE1 , 5HE2 , 5HE3 , 5UKK , 5UKL , 5UKM , 5UZ7 , 6B3J , 6CRK , 6D9H , 6DDE , 6DDF , 6E3Y , 6EG8 , 6G79 , 6GDG , 6KPF , 6KPG , 6LFM , 6LFO , 6LI3 , 6LMK , 6LML , 6M1H , 6M1I , 6M8S , 6N4B , 6NI3 , 6NIY , 6OIJ , 6OIK , 6OMM , 6ORV , 6OS9 , 6OSA , 6OT0 , 6P9X , 6P9Y , 6PB0 , 6PB1 , 6PT0 , 6UUN , 6UUS , 6UVA , 6VCB , 6VMS , 6VN7 , 6WHA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40
45 83
WD domain, G-beta repeat
Repeat
PF00400 WD40
86 125
WD domain, G-beta repeat
Repeat
PF00400 WD40
133 170
WD domain, G-beta repeat
Repeat
PF00400 WD40
174 212
WD domain, G-beta repeat
Repeat
PF00400 WD40
216 254
WD domain, G-beta repeat
Repeat
PF00400 WD40
258 298
WD domain, G-beta repeat
Repeat
PF00400 WD40
304 340
WD domain, G-beta repeat
Repeat
Sequence
Sequence length 340
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  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
Olfactory transduction
Phototransduction
Relaxin signaling pathway
Morphine addiction
Alcoholism
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
  Activation of G protein gated Potassium channels
Glucagon signaling in metabolic regulation
G-protein activation
Activation 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
Congenital hypothyroidism Congenital Hypothyroidism rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 28087732, 27108799
Developmental regression Developmental regression rs1224421127 27108799
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety Disorders, Anxiety States, Neurotic 22113448
Central visual impairment Central visual impairment
Congenital pectus excavatum Congenital pectus excavatum
Dyscognitive seizures Complex partial seizure with impairment of consciousness 27108799

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