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GNB1 G protein subunit beta 1 [ Homo sapiens (human) ]

Gene ID: 2782, updated on 7-Jun-2020

Summary

Official Symbol
GNB1provided by HGNC
Official Full Name
G protein subunit beta 1provided by HGNC
Primary source
HGNC:HGNC:4396
See related
Ensembl:ENSG00000078369 MIM:139380
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRD42
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 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]
Expression
Ubiquitous expression in brain (RPKM 145.4), small intestine (RPKM 87.2) and 25 other tissues See more
Orthologs

Genomic context

See GNB1 in Genome Data Viewer
Location:
1p36.33
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (1785285..1891117, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1716725..1822552, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member E2A Neighboring gene ribosomal protein S7 pseudogene Neighboring gene uncharacterized LOC112268218 Neighboring gene NAD kinase Neighboring gene collagen alpha-2(VIII) chain Neighboring gene calmodulin like 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Acute lymphoid leukemia
MedGen: C0023449 OMIM: 613065 GeneReviews: Not available
Compare labs
Mental retardation, autosomal dominant 42
MedGen: C4310774 OMIM: 616973 GeneReviews: GNB1 Encephalopathy
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2019-01-23)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2019-01-23)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Expression of HIV-1 Tat upregulates the abundance of guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1) in the nucleoli of Jurkat T-cells PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of guanine nucleotide binding protein, beta polypeptide 1 (GNB1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein gamma-subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
alkylglycerophosphoethanolamine phosphodiesterase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
spectrin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled acetylcholine receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
Ras protein signal transduction TAS
Traceable Author Statement
more info
PubMed 
Wnt signaling pathway, calcium modulating pathway TAS
Traceable Author Statement
more info
 
adenylate cyclase-activating dopamine receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac muscle cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
cellular response to catecholamine stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
cellular response to prostaglandin E stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
phospholipase C-activating G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
protein folding TAS
Traceable Author Statement
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
sensory perception of taste IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell body IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular vesicle HDA PubMed 
heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heterotrimeric G-protein complex IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane HDA PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
Names
beta subunit, signal-transducing proteins GS/GI
guanine nucleotide binding protein (G protein), beta polypeptide 1
testicular tissue protein Li 72
transducin beta chain 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047052.1 RefSeqGene

    Range
    5031..110832
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282538.1NP_001269467.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform 2

    See identical proteins and their annotated locations for NP_001269467.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AI092255, AK122949, BC004186, BQ881467
    Consensus CDS
    CCDS72685.1
    UniProtKB/Swiss-Prot
    P62873
    UniProtKB/TrEMBL
    B3KVK2
    Related
    ENSP00000483532.1, ENST00000615252.4
    Conserved Domains (2) summary
    cd00200
    Location:2240
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:141
    7WD40; WD40 repeat [structural motif]
  2. NM_001282539.1NP_001269468.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform 1

    See identical proteins and their annotated locations for NP_001269468.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AI092255, BC004186, BQ881467, BU902364
    Consensus CDS
    CCDS34.1
    UniProtKB/Swiss-Prot
    P62873
    UniProtKB/TrEMBL
    A0A024R056
    Related
    ENSP00000481878.1, ENST00000610897.4
    Conserved Domains (2) summary
    cd00200
    Location:48340
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:5895
    7WD40; WD40 repeat [structural motif]
  3. NM_002074.5NP_002065.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform 1

    See identical proteins and their annotated locations for NP_002065.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AI092255, BC004186, BQ881467
    Consensus CDS
    CCDS34.1
    UniProtKB/Swiss-Prot
    P62873
    UniProtKB/TrEMBL
    A0A024R056
    Related
    ENSP00000367872.3, ENST00000378609.9
    Conserved Domains (2) summary
    cd00200
    Location:48340
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:5895
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    1785285..1891117 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001059.2XP_016856548.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform X1

    UniProtKB/Swiss-Prot
    P62873
    UniProtKB/TrEMBL
    A0A024R056
    Conserved Domains (2) summary
    cd00200
    Location:48340
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:5895
    7WD40; WD40 repeat [structural motif]
  2. XM_024446495.1XP_024302263.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform X1

    Conserved Domains (2) summary
    cd00200
    Location:48340
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:5895
    7WD40; WD40 repeat [structural motif]
  3. XM_017001061.2XP_016856550.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform X1

    UniProtKB/Swiss-Prot
    P62873
    UniProtKB/TrEMBL
    A0A024R056
    Conserved Domains (2) summary
    cd00200
    Location:48340
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:5895
    7WD40; WD40 repeat [structural motif]
  4. XM_017001060.2XP_016856549.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform X1

    UniProtKB/Swiss-Prot
    P62873
    UniProtKB/TrEMBL
    A0A024R056
    Conserved Domains (2) summary
    cd00200
    Location:48340
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:5895
    7WD40; WD40 repeat [structural motif]
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