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Entry version 210 (07 Oct 2020)
Sequence version 1 (01 Aug 1990)
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Protein

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3

Gene

GNB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransducer

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P16520

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1296041, Activation of G protein gated Potassium channels
R-HSA-163359, Glucagon signaling in metabolic regulation
R-HSA-202040, G-protein activation
R-HSA-381676, Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-381771, Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
R-HSA-392170, ADP signalling through P2Y purinoceptor 12
R-HSA-392451, G beta:gamma signalling through PI3Kgamma
R-HSA-392851, Prostacyclin signalling through prostacyclin receptor
R-HSA-400042, Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-4086398, Ca2+ pathway
R-HSA-416476, G alpha (q) signalling events
R-HSA-416482, G alpha (12/13) signalling events
R-HSA-418217, G beta:gamma signalling through PLC beta
R-HSA-418555, G alpha (s) signalling events
R-HSA-418592, ADP signalling through P2Y purinoceptor 1
R-HSA-418594, G alpha (i) signalling events
R-HSA-418597, G alpha (z) signalling events
R-HSA-420092, Glucagon-type ligand receptors
R-HSA-428930, Thromboxane signalling through TP receptor
R-HSA-432040, Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-456926, Thrombin signalling through proteinase activated receptors (PARs)
R-HSA-500657, Presynaptic function of Kainate receptors
R-HSA-6814122, Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-8964315, G beta:gamma signalling through BTK
R-HSA-8964616, G beta:gamma signalling through CDC42
R-HSA-9009391, Extra-nuclear estrogen signaling
R-HSA-9660821, ADORA2B mediated anti-inflammatory cytokines production
R-HSA-997272, Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P16520

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P16520

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3
Alternative name(s):
Transducin beta chain 3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GNB3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000111664.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4400, GNB3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
139130, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P16520

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Night blindness, congenital stationary, 1H (CSNB1H)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07701257Missing in CSNB1H. 1 Publication1
Natural variantiVAR_07701367S → F in CSNB1H; sporadic case; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs140263599EnsemblClinVar.1

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2784

MalaCards human disease database

More...
MalaCardsi
GNB3
MIMi617024, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000111664

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
215, Congenital stationary night blindness

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA176

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P16520, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GNB3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
121011

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001276991 – 340Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3Add BLAST340

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P16520

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P16520

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P16520

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P16520

PeptideAtlas

More...
PeptideAtlasi
P16520

PRoteomics IDEntifications database

More...
PRIDEi
P16520

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
53379 [P16520-1]

2D gel databases

USC-OGP 2-DE database

More...
OGPi
P16520

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P16520

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P16520

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P16520

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000111664, Expressed in pituitary gland and 164 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P16520, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P16520, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000111664, Group enriched (pituitary gland, retina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

G proteins are composed of 3 units, alpha, beta and gamma.

Interacts with RASD2.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
109046, 34 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P16520

Database of interacting proteins

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DIPi
DIP-601N

Protein interaction database and analysis system

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IntActi
P16520, 11 interactors

Molecular INTeraction database

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MINTi
P16520

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000229264

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P16520, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P16520

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati53 – 83WD 1Add BLAST31
Repeati95 – 125WD 2Add BLAST31
Repeati141 – 170WD 3Add BLAST30
Repeati182 – 212WD 4Add BLAST31
Repeati224 – 254WD 5Add BLAST31
Repeati268 – 298WD 6Add BLAST31
Repeati310 – 340WD 7Add BLAST31

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the WD repeat G protein beta family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0286, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT01000000214413

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P16520

KEGG Orthology (KO)

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KOi
K07825

Identification of Orthologs from Complete Genome Data

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OMAi
CDFTAKL

Database of Orthologous Groups

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OrthoDBi
704786at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P16520

TreeFam database of animal gene trees

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TreeFami
TF106149

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR020472, G-protein_beta_WD-40_rep
IPR001632, Gprotein_B
IPR016346, Guanine_nucleotide-bd_bsu
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR019775, WD40_repeat_CS
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR19850, PTHR19850, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00400, WD40, 7 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00319, GPROTEINB
PR00320, GPROTEINBRPT

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00320, WD40, 7 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50978, SSF50978, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00678, WD_REPEATS_1, 3 hits
PS50082, WD_REPEATS_2, 5 hits
PS50294, WD_REPEATS_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P16520-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGEMEQLRQE AEQLKKQIAD ARKACADVTL AELVSGLEVV GRVQMRTRRT
60 70 80 90 100
LRGHLAKIYA MHWATDSKLL VSASQDGKLI VWDSYTTNKV HAIPLRSSWV
110 120 130 140 150
MTCAYAPSGN FVACGGLDNM CSIYNLKSRE GNVKVSRELS AHTGYLSCCR
160 170 180 190 200
FLDDNNIVTS SGDTTCALWD IETGQQKTVF VGHTGDCMSL AVSPDFNLFI
210 220 230 240 250
SGACDASAKL WDVREGTCRQ TFTGHESDIN AICFFPNGEA ICTGSDDASC
260 270 280 290 300
RLFDLRADQE LICFSHESII CGITSVAFSL SGRLLFAGYD DFNCNVWDSM
310 320 330 340
KSERVGILSG HDNRVSCLGV TADGMAVATG SWDSFLKIWN
Length:340
Mass (Da):37,221
Last modified:August 1, 1990 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i896E706A61B8D74F
GO
Isoform 2 (identifier: P16520-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     236-278: Missing.

Show »
Length:297
Mass (Da):32,633
Checksum:i6A533D5BF825B273
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PCP0E9PCP0_HUMAN
Guanine nucleotide-binding protein ...
GNB3
339Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H100F5H100_HUMAN
Guanine nucleotide-binding protein ...
GNB3
232Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H8J8F5H8J8_HUMAN
Guanine nucleotide-binding protein ...
GNB3
232Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H0S8F5H0S8_HUMAN
Guanine nucleotide-binding protein ...
GNB3
264Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GZN8F5GZN8_HUMAN
Guanine nucleotide-binding protein ...
GNB3
36Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04926840V → M. Corresponds to variant dbSNP:rs45569331Ensembl.1
Natural variantiVAR_07701257Missing in CSNB1H. 1 Publication1
Natural variantiVAR_07701367S → F in CSNB1H; sporadic case; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs140263599EnsemblClinVar.1
Natural variantiVAR_01475676D → N. Corresponds to variant dbSNP:rs2234756Ensembl.1
Natural variantiVAR_04926981V → M. Corresponds to variant dbSNP:rs45616032Ensembl.1
Natural variantiVAR_014757272G → S2 PublicationsCorresponds to variant dbSNP:rs5442Ensembl.1
Natural variantiVAR_029304280L → F. Corresponds to variant dbSNP:rs28395776Ensembl.1
Natural variantiVAR_029305324G → E. Corresponds to variant dbSNP:rs28395775Ensembl.1
Natural variantiVAR_014758339W → L. Corresponds to variant dbSNP:rs5444Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_055233236 – 278Missing in isoform 2. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
M31328 mRNA Translation: AAA52582.1
U47924 Genomic DNA Translation: AAB51313.1
U47930 mRNA Translation: AAC50468.1
Y12050 Y12058 Genomic DNA Translation: CAA72779.1
AF501884 mRNA Translation: AAM15920.1
BT009800 mRNA Translation: AAP88802.1
AY631872 Genomic DNA Translation: AAT38116.1
BC000115 mRNA Translation: AAH00115.1
BC002454 mRNA Translation: AAH02454.1
BC015920 mRNA Translation: AAH15920.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8564.1 [P16520-1]

Protein sequence database of the Protein Information Resource

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PIRi
A35096, RGHUB3

NCBI Reference Sequences

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RefSeqi
NP_001284500.1, NM_001297571.1
NP_002066.1, NM_002075.3 [P16520-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000229264; ENSP00000229264; ENSG00000111664 [P16520-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2784

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2784

UCSC genome browser

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UCSCi
uc001qrd.3, human [P16520-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M31328 mRNA Translation: AAA52582.1
U47924 Genomic DNA Translation: AAB51313.1
U47930 mRNA Translation: AAC50468.1
Y12050 Y12058 Genomic DNA Translation: CAA72779.1
AF501884 mRNA Translation: AAM15920.1
BT009800 mRNA Translation: AAP88802.1
AY631872 Genomic DNA Translation: AAT38116.1
BC000115 mRNA Translation: AAH00115.1
BC002454 mRNA Translation: AAH02454.1
BC015920 mRNA Translation: AAH15920.1
CCDSiCCDS8564.1 [P16520-1]
PIRiA35096, RGHUB3
RefSeqiNP_001284500.1, NM_001297571.1
NP_002066.1, NM_002075.3 [P16520-1]

3D structure databases

SMRiP16520
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi109046, 34 interactors
CORUMiP16520
DIPiDIP-601N
IntActiP16520, 11 interactors
MINTiP16520
STRINGi9606.ENSP00000229264

PTM databases

iPTMnetiP16520
PhosphoSitePlusiP16520
SwissPalmiP16520

Polymorphism and mutation databases

BioMutaiGNB3
DMDMi121011

2D gel databases

OGPiP16520

Proteomic databases

jPOSTiP16520
MassIVEiP16520
MaxQBiP16520
PaxDbiP16520
PeptideAtlasiP16520
PRIDEiP16520
ProteomicsDBi53379 [P16520-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
1080, 211 antibodies

The DNASU plasmid repository

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DNASUi
2784

Genome annotation databases

EnsembliENST00000229264; ENSP00000229264; ENSG00000111664 [P16520-1]
GeneIDi2784
KEGGihsa:2784
UCSCiuc001qrd.3, human [P16520-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2784
DisGeNETi2784
EuPathDBiHostDB:ENSG00000111664.10

GeneCards: human genes, protein and diseases

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GeneCardsi
GNB3
HGNCiHGNC:4400, GNB3
HPAiENSG00000111664, Group enriched (pituitary gland, retina)
MalaCardsiGNB3
MIMi139130, gene
617024, phenotype
neXtProtiNX_P16520
OpenTargetsiENSG00000111664
Orphaneti215, Congenital stationary night blindness
PharmGKBiPA176

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0286, Eukaryota
GeneTreeiENSGT01000000214413
InParanoidiP16520
KOiK07825
OMAiCDFTAKL
OrthoDBi704786at2759
PhylomeDBiP16520
TreeFamiTF106149

Enzyme and pathway databases

PathwayCommonsiP16520
ReactomeiR-HSA-1296041, Activation of G protein gated Potassium channels
R-HSA-163359, Glucagon signaling in metabolic regulation
R-HSA-202040, G-protein activation
R-HSA-381676, Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-381771, Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
R-HSA-392170, ADP signalling through P2Y purinoceptor 12
R-HSA-392451, G beta:gamma signalling through PI3Kgamma
R-HSA-392851, Prostacyclin signalling through prostacyclin receptor
R-HSA-400042, Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-4086398, Ca2+ pathway
R-HSA-416476, G alpha (q) signalling events
R-HSA-416482, G alpha (12/13) signalling events
R-HSA-418217, G beta:gamma signalling through PLC beta
R-HSA-418555, G alpha (s) signalling events
R-HSA-418592, ADP signalling through P2Y purinoceptor 1
R-HSA-418594, G alpha (i) signalling events
R-HSA-418597, G alpha (z) signalling events
R-HSA-420092, Glucagon-type ligand receptors
R-HSA-428930, Thromboxane signalling through TP receptor
R-HSA-432040, Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-456926, Thrombin signalling through proteinase activated receptors (PARs)
R-HSA-500657, Presynaptic function of Kainate receptors
R-HSA-6814122, Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-8964315, G beta:gamma signalling through BTK
R-HSA-8964616, G beta:gamma signalling through CDC42
R-HSA-9009391, Extra-nuclear estrogen signaling
R-HSA-9660821, ADORA2B mediated anti-inflammatory cytokines production
R-HSA-997272, Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
SignaLinkiP16520
SIGNORiP16520

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
2784, 10 hits in 871 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
GNB3, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GNB3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
2784
PharosiP16520, Tbio

Protein Ontology

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PROi
PR:P16520
RNActiP16520, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000111664, Expressed in pituitary gland and 164 other tissues
ExpressionAtlasiP16520, baseline and differential
GenevisibleiP16520, HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR020472, G-protein_beta_WD-40_rep
IPR001632, Gprotein_B
IPR016346, Guanine_nucleotide-bd_bsu
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR019775, WD40_repeat_CS
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf
PANTHERiPTHR19850, PTHR19850, 1 hit
PfamiView protein in Pfam
PF00400, WD40, 7 hits
PRINTSiPR00319, GPROTEINB
PR00320, GPROTEINBRPT
SMARTiView protein in SMART
SM00320, WD40, 7 hits
SUPFAMiSSF50978, SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678, WD_REPEATS_1, 3 hits
PS50082, WD_REPEATS_2, 5 hits
PS50294, WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGBB3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P16520
Secondary accession number(s): Q96B71, Q9BQC0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: August 1, 1990
Last modified: October 7, 2020
This is version 210 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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