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Aliases for GNB1 Gene

Aliases for GNB1 Gene

  • G Protein Subunit Beta 1 2 3
  • Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 1 2 5
  • Transducin Beta Chain 1 4

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 mechanical strabismus and pathologic nystagmus. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. 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

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

Genomics for GNB1 Gene

Regulatory Elements for GNB1 Gene

Promoters for GNB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GNB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GNB1 Gene

Chromosome:
1
Start:
1,785,285 bp from pter
End:
1,891,117 bp from pter
Size:
105,833 bases
Orientation:
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:
    P62873-GBB1_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
    Protein Accession:
    P62873
    Secondary Accessions:
    • B1AJZ7
    • P04697
    • P04901
    • Q1RMY8

    Protein attributes for GNB1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for GNB1 Gene

Proteomics data for GNB1 Gene at MOPED

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 Lys 23, Lys 209, Lys 280, and Lys 301
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GNB1 Gene

Domains & Families for GNB1 Gene

Gene Families for GNB1 Gene

Suggested Antigen Peptide Sequences for GNB1 Gene

Graphical View of Domain Structure for InterPro Entry

P62873

UniProtKB/Swiss-Prot:

GBB1_HUMAN :
  • Belongs to the WD repeat G protein beta family.
  • Contains 7 WD repeats.
Family:
  • Belongs to the WD repeat G protein beta family.
Similarity:
  • Contains 7 WD repeats.
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.

Gene Ontology (GO) - Molecular Function for GNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA 1543505
genes like me logo Genes that share ontologies with GNB1: view
genes like me logo Genes that share phenotypes with GNB1: view

Animal Model Products

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

Localization for GNB1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNB1 Gene COMPARTMENTS Subcellular localization image for GNB1 gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 4
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005834 heterotrimeric G-protein complex IEA,IDA 1543505
GO:0030425 dendrite IEA --
GO:0044297 cell body IEA --
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

SuperPathways for GNB1 Gene

Superpath Contained pathways
1 Circadian entrainment
2 Development Angiotensin activation of ERK
3 fMLP Pathway
4 Presynaptic function of Kainate receptors
5 G-protein activation
genes like me logo Genes that share pathways with GNB1: view

SIGNOR curated interactions for GNB1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006457 protein folding TAS --
GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway ISS --
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway IEA --
GO:0007213 G-protein coupled acetylcholine receptor signaling pathway TAS 8717044
genes like me logo Genes that share ontologies with GNB1: view

Drugs & Compounds for GNB1 Gene

(4) Drugs for GNB1 Gene - From: HMDB and DrugBank

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

(5) Additional Compounds for GNB1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
89430-38-6
mastoparan
72093-21-1
Mastoparan X
72093-22-2
NF 023
104869-31-0
SCH 202676 hydrobromide
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:

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: - -
SP5:
SP6:
SP7: - -

Relevant External Links for GNB1 Gene

GeneLoc Exon Structure for
GNB1
ECgene alternative splicing isoforms for
GNB1

Expression for GNB1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for GNB1 Gene



SOURCE GeneReport for Unigene cluster for GNB1 Gene Hs.430425

genes like me logo Genes that share expression patterns with GNB1: view

Protein tissue co-expression partners for GNB1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia GNB1 35
  • 99.67 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia GNB1 36
  • 100 (a)
OneToOne
GNB1 35
  • 90.88 (n)
  • 100 (a)
dog
(Canis familiaris)
Mammalia GNB1 35
  • 91.67 (n)
  • 100 (a)
GNB1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnb1 16
Gnb1 36
  • 100 (a)
OneToOne
Gnb1 35
  • 90.2 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia GNB1 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNB1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnb1 35
  • 90.49 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves GNB1 36
  • 81 (a)
OneToOne
GNB1 35
  • 82.55 (n)
  • 97.94 (a)
lizard
(Anolis carolinensis)
Reptilia GNB1 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4840 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17087 35
gnb1 35
  • 81.18 (n)
  • 97.35 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3545 35
zebrafish
(Danio rerio)
Actinopterygii gnb1a 35
  • 83.63 (n)
  • 98.82 (a)
gnb1b 36
  • 98 (a)
OneToMany
gnb1b 36
  • 98 (a)
OneToMany
gnb1a 36
  • 99 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005911 35
  • 73.24 (n)
  • 85.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gbeta13F 36
  • 84 (a)
OneToMany
Gbeta13F 35
  • 70.39 (n)
  • 83.53 (a)
Gbgr76C 37
  • 43 (a)
Gbgr13F 37
  • 83 (a)
worm
(Caenorhabditis elegans)
Secernentea gpb-1 36
  • 86 (a)
OneToMany
gpb-1 37
  • 85 (a)
gpb-1 35
  • 70.2 (n)
  • 85.88 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AGB1 35
  • 51.38 (n)
  • 48.22 (a)
rice
(Oryza sativa)
Liliopsida Os03g0669200 35
  • 53.86 (n)
  • 52.98 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00440 35
  • 62.72 (n)
  • 66.27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10536 36
  • 78 (a)
OneToMany
Species with no ortholog for GNB1:
  • 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

ENSEMBL:
Gene Tree for GNB1 (if available)
TreeFam:
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
rs1055638 -- 1,872,340(-) TGCAG(C/T)GGGAA intron-variant
rs1205618 -- 1,799,134(+) ccagg(A/C)tggtc intron-variant
rs1212354 -- 1,866,760(+) ccatc(C/T)tggct intron-variant
rs1212355 -- 1,866,770(+) taaca(A/C/T)ggtga intron-variant
rs1213074 -- 1,851,341(-) cctcc(A/G)cctcc intron-variant

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

Variant ID Type Subtype PubMed ID
dgv34n71 CNV Loss 21882294
nsv871690 CNV Gain 21882294
dgv9e1 CNV Complex 17122850
nsv871954 CNV Loss 21882294
dgv45n71 CNV Loss 21882294
dgv10e1 CNV Complex 17122850
nsv482957 CNV Loss 15286789
nsv871560 CNV Loss 21882294
nsv834091 CNV Loss 17160897
nsv871121 CNV Gain 21882294
nsv870637 CNV Loss 21882294
dgv54n71 CNV Loss 21882294
nsv834335 CNV Loss 17160897
esv2619193 CNV Deletion 19546169
esv2658596 CNV Deletion 23128226
esv2666680 CNV Deletion 23128226
esv2750029 CNV Deletion 23290073
dgv55n71 CNV Loss 21882294
dgv56n71 CNV Loss 21882294
nsv871672 CNV Loss 21882294
nsv871204 CNV Loss 21882294
nsv10272 CNV Gain 18304495

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

HapMap Linkage Disequilibrium report
GNB1

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

Disorders for GNB1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for GNB1 Gene - From: ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mechanical strabismus
  • strabismus
pathologic nystagmus
  • nystagmus
visual epilepsy
  • epilepsy, visual
seizure disorder
  • epilepsy
generalized dystonia
  • dystonia 12
- elite association - COSMIC cancer census association via MalaCards
Search GNB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GNB1

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

No data available for UniProtKB/Swiss-Prot and 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 G.H. … Dryja T.P. (Mol. Vis. 2006) 3 23 48 67
  2. Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease. (PMID: 17356515) Gao Y.Q. … Farber D.B. (Mol. Vis. 2007) 3 23
  3. ABCE1 is a highly conserved RNA silencing suppressor. (PMID: 25659154) KAorblane K. … Sarmiento C. (PLoS ONE 2015) 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for GNB1 Gene

Sources for GNB1 Gene

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