Gene Gene information from NCBI Gene database.
Entrez ID 2782
Gene name G protein subunit beta 1
Gene symbol GNB1
Synonyms (NCBI Gene)
HG2AMDSMRD42
Chromosome 1
Chromosome location 1p36.33
Summary 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
SNPs SNP information provided by dbSNP.
17
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
miRNA miRNA information provided by mirtarbase database.
690
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment IEA
GO:0003924 Function GTPase activity IDA 1543505
GO:0003924 Function GTPase activity TAS 3095147
GO:0005515 Function Protein binding IPI 16782902, 17500595, 23739333, 25036637, 25416956, 28437792, 32296183, 32528175, 32814053, 33961781, 35271311
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139380 4396 ENSG00000078369
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
42
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute lymphoid leukemia Likely pathogenic; Pathogenic rs752746786, rs869312821 RCV004767128
RCV000225283
RCV000225357
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical behavior Pathogenic rs1570640673 RCV001003565
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder Likely pathogenic; Pathogenic rs758432471 RCV001291375
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant non-syndromic intellectual disability Likely pathogenic rs2522267389 RCV003150607
★★★★☆
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.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDERS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder CTD_human_DG 22113448
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic Anxiety Disorder CTD_human_DG 22113448
★☆☆☆☆
Found in Text Mining only
Aphasia Aphasia Pubtator 28087732 Associate
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 37453880 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23603342
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37152370 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 29332336 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 30820140 Associate
★☆☆☆☆
Found in Text Mining only