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Aliases for GNB1 Gene

Aliases for GNB1 Gene

  • G Protein Subunit Beta 1 2 3 5
  • Transducin Beta Chain 1 2 3 4
  • Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 1 2 3
  • Guanine Nucleotide-Binding Protein G(I)/G(S)/G(T) Subunit Beta-1 2 3
  • Beta Subunit, Signal-Transducing Proteins GS/GI 3
  • Testicular Tissue Protein Li 72 3
  • MRD42 3

External Ids for GNB1 Gene

Previous GeneCards Identifiers for GNB1 Gene

  • GC01M001274
  • GC01M001521
  • GC01M001585
  • GC01M001665
  • GC01M001748
  • GC01M000993

Summaries for GNB1 Gene

Entrez Gene Summary for GNB1 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 encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for GNB1 Gene

GNB1 (G Protein Subunit Beta 1) is a Protein Coding gene. Diseases associated with GNB1 include Mental Retardation, Autosomal Dominant 42 and Leukemia, Acute Lymphoblastic. Among its related pathways are GABAergic synapse and Phototransduction. GO annotations related to this gene include GTPase activity and protein complex binding. An important paralog of this gene is GNB4.

UniProtKB/Swiss-Prot for GNB1 Gene

  • 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 protein-effector interaction.

Tocris Summary for GNB1 Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNB1 Gene

Additional gene information for GNB1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNB1 Gene

Genomics for GNB1 Gene

Regulatory Elements for GNB1 Gene

Enhancers for GNB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H001799 0.7 dbSUPER 12.3 +91.1 91105 1.7 HDGF CBFB NR2F1 MAX SIN3A EBF1 BATF EED IKZF1 ATF7 LOC105378949 GNB1 CALML6 TMEM52 GC01M001783 GC01P001820
GH01H001795 0.6 dbSUPER 12.3 +93.9 93928 3.5 SREBF1 SCRT1 CTCF SCRT2 BATF RAD21 TMEM52 LOC105378949 GNB1 CALML6 SLC35E2B GC01M001783 GC01P001820
GH01H001775 1.7 FANTOM5 ENCODE dbSUPER 2.9 +111.6 111592 8.6 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 CBX5 NADK INTS11 ENSG00000240731 CCNL2 CDK11A LOC100288379 LOC105378949 SDF4 ENSG00000230092 ATAD3B
GH01H002239 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.2 -349.2 -349232 1.3 KLF1 NFIB SIN3A MAX ZIC2 RAD21 ZFHX2 GLIS2 POLR2A EGR1 NADK SKI TNFRSF14 GNB1 PANK4 PIR45792
GH01H002150 1.5 FANTOM5 Ensembl ENCODE dbSUPER 2.3 -260.6 -260647 3.1 CTCF POLR2A SCRT2 CEBPB MAX CEBPG MYC NADK FAAP20 PRKCZ-AS1 ENSG00000271806 ENSG00000234396 LOC105378589 CDK11A CDK11B TNFRSF14 GNB1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNB1 on UCSC Golden Path with GeneCards custom track

Promoters for GNB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000000250 617 3001 HDGF ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 FOS SP3

Genomic Locations for GNB1 Gene

Genomic Locations for GNB1 Gene
105,833 bases
Minus strand

Genomic View for GNB1 Gene

Genes around GNB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNB1 Gene

Proteins for GNB1 Gene

  • Protein details for GNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
    Protein Accession:
    Secondary Accessions:
    • B1AJZ7
    • P04697
    • P04901
    • Q1RMY8

    Protein attributes for GNB1 Gene

    340 amino acids
    Molecular mass:
    37377 Da
    Quaternary structure:
    • G proteins are composed of 3 units, alpha, beta and gamma. Interacts with ARHGEF18 and RASD2 (PubMed:14512443, PubMed:19255495). The heterodimer formed by GNB1 and GNG2 interacts with ARHGEF5 (PubMed:19713215).

    Three dimensional structures from OCA and Proteopedia for GNB1 Gene

    Alternative splice isoforms for GNB1 Gene


neXtProt entry for GNB1 Gene

Post-translational modifications for GNB1 Gene

  • Phosphorylation at His-266 by NDKB contributes to G protein activation by increasing the high energetic phosphate transfer onto GDP.
  • Ubiquitination at isoforms=223, posLast=209209, posLast=280280, and isoforms=2301
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GNB1 Gene

Domains & Families for GNB1 Gene

Gene Families for GNB1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GNB1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the WD repeat G protein beta family.
  • Belongs to the WD repeat G protein beta family.
genes like me logo Genes that share domains with GNB1: view

Function for GNB1 Gene

Molecular function for GNB1 Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),beta,polypeptide 1
UniProtKB/Swiss-Prot 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 protein-effector interaction.

Phenotypes From GWAS Catalog for GNB1 Gene

Gene Ontology (GO) - Molecular Function for GNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA 1543505
GO:0004871 signal transducer activity IEA --
GO:0005515 protein binding IPI 16782902
GO:0030507 spectrin binding IEA --
GO:0031702 type 1 angiotensin receptor binding IEA --
genes like me logo Genes that share ontologies with GNB1: view
genes like me logo Genes that share phenotypes with GNB1: view

Human Phenotype Ontology for GNB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

  • Addgene plasmids for GNB1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GNB1 Gene

Localization for GNB1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNB1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
lysosome 5
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0005622 intracellular ISS --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GNB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GNB1 Gene

Pathways & Interactions for GNB1 Gene

SuperPathway Contained pathways
1 Development Angiotensin activation of ERK
2 ADP signalling through P2Y purinoceptor 12
3 fMLP Pathway
4 Presynaptic function of Kainate receptors
5 Phototransduction
genes like me logo Genes that share pathways with GNB1: view

SIGNOR curated interactions for GNB1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0007165 signal transduction TAS,IEA 7649993
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway ISS --
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with GNB1: view

Drugs & Compounds for GNB1 Gene

(3) Drugs for GNB1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNB1 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GNB1 Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Gue 1654 Selective inhibitor of OXE-R Gbetagamma signaling 397290-30-1
Mastoparan Activates Gi and Go 72093-21-1
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNB1: view

Transcripts for GNB1 Gene

Unigene Clusters for GNB1 Gene

Guanine nucleotide binding protein (G protein), beta polypeptide 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for GNB1

Alternative Splicing Database (ASD) splice patterns (SP) for GNB1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP7: - -

Relevant External Links for GNB1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GNB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNB1 Gene

Protein differential expression in normal tissues from HIPED for GNB1 Gene

This gene is overexpressed in Retina (12.0), Frontal cortex (8.1), and Fetal Brain (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNB1 Gene

Protein tissue co-expression partners for GNB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GNB1 Gene:


SOURCE GeneReport for Unigene cluster for GNB1 Gene:


Evidence on tissue expression from TISSUES for GNB1 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Muscle(4.4)
  • Lung(4)
  • Eye(3.8)
  • Skin(3)
  • Pancreas(2.4)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with GNB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNB1 Gene

Orthologs for GNB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GNB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GNB1 33
  • 99.67 (n)
(Monodelphis domestica)
Mammalia GNB1 34
  • 99 (a)
(Ornithorhynchus anatinus)
Mammalia GNB1 34
  • 99 (a)
(Canis familiaris)
Mammalia GNB1 34 33
  • 91.67 (n)
(Bos Taurus)
Mammalia GNB1 34 33
  • 90.88 (n)
(Rattus norvegicus)
Mammalia Gnb1 33
  • 90.49 (n)
(Mus musculus)
Mammalia Gnb1 16 34 33
  • 90.2 (n)
(Gallus gallus)
Aves GNB1 34 33
  • 82.55 (n)
(Anolis carolinensis)
Reptilia GNB1 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb1 33
  • 81.18 (n)
Str.17087 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4840 33
(Danio rerio)
Actinopterygii gnb1b 34 34
  • 98 (a)
gnb1a 34 33
  • 83.63 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3545 33
fruit fly
(Drosophila melanogaster)
Insecta Gbgr13F 35
  • 83 (a)
Gbeta13F 33 34
  • 70.39 (n)
Gbgr76C 35
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005911 33
  • 73.24 (n)
(Caenorhabditis elegans)
Secernentea gpb-1 35 33 34
  • 70.2 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AGB1 33
  • 51.38 (n)
(Oryza sativa)
Liliopsida Os03g0669200 33
  • 53.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10536 34
  • 78 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00440 33
  • 62.72 (n)
Species where no ortholog for GNB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNB1 Gene

Gene Tree for GNB1 (if available)
Gene Tree for GNB1 (if available)

Paralogs for GNB1 Gene

Paralogs for GNB1 Gene

(7) SIMAP similar genes for GNB1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with GNB1: view

Variants for GNB1 Gene

Sequence variations from dbSNP and Humsavar for GNB1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs752746786 Pathogenic, Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] 1,806,503(+) AGATG(A/G/T)TAAGT reference, missense, utr-variant-5-prime
rs758432471 Pathogenic, Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] 1,806,513(+) TTTAC(C/T)ATCCT reference, missense, utr-variant-5-prime
rs764997309 Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] 1,817,845(+) AGAGA(A/G)AGTTG intron-variant, reference, missense
rs869312821 Pathogenic, Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] 1,806,515(-) GCAGG(A/G)TGGTA reference, missense, utr-variant-5-prime
rs869312822 Pathogenic, Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] 1,806,514(-) CAGGA(G/T)GGTAA reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for GNB1 Gene

Variant ID Type Subtype PubMed ID
nsv951400 CNV deletion 24416366
nsv951380 CNV deletion 24416366
nsv834335 CNV loss 17160897
nsv834091 CNV loss 17160897
nsv482937 CNV loss 15286789
nsv478764 CNV novel sequence insertion 20440878
nsv1160926 CNV duplication 26073780
nsv1160797 CNV duplication 26073780
nsv1133790 CNV deletion 24896259
nsv1121741 CNV deletion 24896259
nsv1118095 CNV deletion 24896259
nsv1113059 CNV deletion 24896259
nsv1075000 CNV deletion 25765185
nsv10272 CNV gain 18304495
esv3585018 CNV loss 21293372
esv3577696 CNV loss 25503493
esv3577695 CNV loss 25503493
esv3556343 CNV deletion 23714750
esv2758913 CNV gain+loss 17122850
esv2666680 CNV deletion 23128226
esv2658596 CNV deletion 23128226
esv2619193 CNV deletion 19546169
dgv5n111 CNV deletion 26073780
dgv10n100 CNV gain 25217958

Variation tolerance for GNB1 Gene

Residual Variation Intolerance Score: 26.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.02; 0.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNB1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNB1 Gene

Disorders for GNB1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for GNB1 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 42
  • mrd42
leukemia, acute lymphoblastic
  • leukemia, acute lymphoblastic, somatic
cerebral visual impairment
  • cortical visual impairment
mechanical strabismus
  • strabismus
  • susceptibility to strabismus
- elite association - COSMIC cancer census association via MalaCards
Search GNB1 in MalaCards View complete list of genes associated with diseases


  • Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD42 patients manifest global developmental delay commonly accompanied by hypotonia, seizures of various types, ophthalmological manifestations, and poor growth. {ECO:0000269 PubMed:25485910, ECO:0000269 PubMed:27108799, ECO:0000269 PubMed:27668284, ECO:0000269 PubMed:28087732}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GNB1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GNB1: view

No data available for Genatlas for GNB1 Gene

Publications for GNB1 Gene

  1. A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa. (PMID: 17167406) Mylvaganam GH … Dryja TP (Molecular vision 2006) 3 22 45 60
  2. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. (PMID: 28087732) Lohmann K … Martemyanov KA (Human molecular genetics 2017) 3 4 60
  3. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. (PMID: 27108799) Petrovski S … Goldstein DB (American journal of human genetics 2016) 3 4 60
  4. Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. (PMID: 25485910) Yoda A … Lane AA (Nature medicine 2015) 3 4 60
  5. The cationic region of Rhes mediates its interactions with specific Gbeta subunits. (PMID: 19255495) Hill C … Davey J (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2009) 3 4 60

Products for GNB1 Gene

Sources for GNB1 Gene

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