UniProtKB - P16520 (GBB3_HUMAN)
Protein
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3
Gene
GNB3
Organism
Homo sapiens (Human)
Status
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.
GO - Molecular functioni
- G-protein gamma-subunit binding Source: GO_Central
- GTPase activity Source: ProtInc
- GTPase binding Source: UniProtKB
- spectrin binding Source: Ensembl
GO - Biological processi
- cell volume homeostasis Source: ARUK-UCL
- G protein-coupled receptor signaling pathway Source: GO_Central
- protein folding Source: Reactome
- regulation of blood pressure Source: ProtInc
- regulation of cholesterol metabolic process Source: ARUK-UCL
- regulation of fat cell differentiation Source: ARUK-UCL
- regulation of gene expression Source: ARUK-UCL
- regulation of glucose metabolic process Source: ARUK-UCL
- regulation of hormone metabolic process Source: ARUK-UCL
- regulation of phospholipid metabolic process Source: ARUK-UCL
- regulation of triglyceride metabolic process Source: ARUK-UCL
Keywordsi
Molecular function | Transducer |
Enzyme and pathway databases
PathwayCommonsi | P16520 |
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 |
SignaLinki | P16520 |
SIGNORi | P16520 |
Names & Taxonomyi
Protein namesi | Recommended name: Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3Alternative name(s): Transducin beta chain 3 |
Gene namesi | Name:GNB3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000111664.10 |
HGNCi | HGNC:4400, GNB3 |
MIMi | 139130, gene |
neXtProti | NX_P16520 |
Subcellular locationi
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- heterotrimeric G-protein complex Source: GO_Central
- plasma membrane Source: Reactome
Other locations
Pathology & Biotechi
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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077012 | 57 | Missing in CSNB1H. 1 Publication | 1 | |
Natural variantiVAR_077013 | 67 | S → F in CSNB1H; sporadic case; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs140263599EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital stationary night blindness, Disease mutationOrganism-specific databases
DisGeNETi | 2784 |
MalaCardsi | GNB3 |
MIMi | 617024, phenotype |
OpenTargetsi | ENSG00000111664 |
Orphaneti | 215, Congenital stationary night blindness |
PharmGKBi | PA176 |
Miscellaneous databases
Pharosi | P16520, Tbio |
Polymorphism and mutation databases
BioMutai | GNB3 |
DMDMi | 121011 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000127699 | 1 – 340 | Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3Add BLAST | 340 |
Proteomic databases
jPOSTi | P16520 |
MassIVEi | P16520 |
MaxQBi | P16520 |
PaxDbi | P16520 |
PeptideAtlasi | P16520 |
PRIDEi | P16520 |
ProteomicsDBi | 53379 [P16520-1] |
2D gel databases
OGPi | P16520 |
PTM databases
iPTMneti | P16520 |
PhosphoSitePlusi | P16520 |
SwissPalmi | P16520 |
Expressioni
Gene expression databases
Bgeei | ENSG00000111664, Expressed in pituitary gland and 164 other tissues |
ExpressionAtlasi | P16520, baseline and differential |
Genevisiblei | P16520, HS |
Organism-specific databases
HPAi | ENSG00000111664, Group enriched (pituitary gland, retina) |
Interactioni
Subunit structurei
G proteins are composed of 3 units, alpha, beta and gamma.
Interacts with RASD2.
1 PublicationBinary interactionsi
Hide detailsP16520
With | #Exp. | IntAct |
---|---|---|
CXCR5 [P32302] | 3 | EBI-2880663,EBI-2835269 |
Isoform 2 [P16520-2]
With | #Exp. | IntAct |
---|---|---|
CIDEB [Q9UHD4] | 3 | EBI-17871073,EBI-7062247 |
GO - Molecular functioni
- G-protein gamma-subunit binding Source: GO_Central
- GTPase binding Source: UniProtKB
- spectrin binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 109046, 35 interactors |
CORUMi | P16520 |
DIPi | DIP-601N |
IntActi | P16520, 11 interactors |
MINTi | P16520 |
STRINGi | 9606.ENSP00000229264 |
Miscellaneous databases
RNActi | P16520, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 53 – 83 | WD 1Add BLAST | 31 | |
Repeati | 95 – 125 | WD 2Add BLAST | 31 | |
Repeati | 141 – 170 | WD 3Add BLAST | 30 | |
Repeati | 182 – 212 | WD 4Add BLAST | 31 | |
Repeati | 224 – 254 | WD 5Add BLAST | 31 | |
Repeati | 268 – 298 | WD 6Add BLAST | 31 | |
Repeati | 310 – 340 | WD 7Add BLAST | 31 |
Sequence similaritiesi
Belongs to the WD repeat G protein beta family.Curated
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG0286, Eukaryota |
GeneTreei | ENSGT01000000214413 |
InParanoidi | P16520 |
OMAi | CDFTAKL |
OrthoDBi | 704786at2759 |
PhylomeDBi | P16520 |
TreeFami | TF106149 |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
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 |
PANTHERi | PTHR19850, PTHR19850, 1 hit |
Pfami | View protein in Pfam PF00400, WD40, 7 hits |
PRINTSi | PR00319, GPROTEINB PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00320, WD40, 7 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 3 hits PS50082, WD_REPEATS_2, 5 hits PS50294, WD_REPEATS_REGION, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 6 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PCP0 | E9PCP0_HUMAN | Guanine nucleotide-binding protein ... | GNB3 | 339 | Annotation score: | ||
F5H100 | F5H100_HUMAN | Guanine nucleotide-binding protein ... | GNB3 | 232 | Annotation score: | ||
F5H8J8 | F5H8J8_HUMAN | Guanine nucleotide-binding protein ... | GNB3 | 232 | Annotation score: | ||
F5H0S8 | F5H0S8_HUMAN | Guanine nucleotide-binding protein ... | GNB3 | 264 | Annotation score: | ||
F5GZN8 | F5GZN8_HUMAN | Guanine nucleotide-binding protein ... | GNB3 | 36 | Annotation score: | ||
A0A6Q8PF84 | A0A6Q8PF84_HUMAN | Guanine nucleotide-binding protein ... | GNB3 | 35 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049268 | 40 | V → M. Corresponds to variant dbSNP:rs45569331Ensembl. | 1 | |
Natural variantiVAR_077012 | 57 | Missing in CSNB1H. 1 Publication | 1 | |
Natural variantiVAR_077013 | 67 | S → F in CSNB1H; sporadic case; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs140263599EnsemblClinVar. | 1 | |
Natural variantiVAR_014756 | 76 | D → N. Corresponds to variant dbSNP:rs2234756Ensembl. | 1 | |
Natural variantiVAR_049269 | 81 | V → M. Corresponds to variant dbSNP:rs45616032Ensembl. | 1 | |
Natural variantiVAR_014757 | 272 | G → S2 PublicationsCorresponds to variant dbSNP:rs5442Ensembl. | 1 | |
Natural variantiVAR_029304 | 280 | L → F. Corresponds to variant dbSNP:rs28395776Ensembl. | 1 | |
Natural variantiVAR_029305 | 324 | G → E. Corresponds to variant dbSNP:rs28395775Ensembl. | 1 | |
Natural variantiVAR_014758 | 339 | W → L. Corresponds to variant dbSNP:rs5444Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055233 | 236 – 278 | Missing in isoform 2. 1 PublicationAdd BLAST | 43 |
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 , Y12051, Y12052, Y12053, Y12054, Y12055, Y12056, Y12057, 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 |
CCDSi | CCDS8564.1 [P16520-1] |
PIRi | A35096, RGHUB3 |
RefSeqi | NP_001284500.1, NM_001297571.1 NP_002066.1, NM_002075.3 [P16520-1] |
Genome annotation databases
Ensembli | ENST00000229264; ENSP00000229264; ENSG00000111664 [P16520-1] |
GeneIDi | 2784 |
KEGGi | hsa:2784 |
UCSCi | uc001qrd.3, human [P16520-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 , Y12051, Y12052, Y12053, Y12054, Y12055, Y12056, Y12057, 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 |
CCDSi | CCDS8564.1 [P16520-1] |
PIRi | A35096, RGHUB3 |
RefSeqi | NP_001284500.1, NM_001297571.1 NP_002066.1, NM_002075.3 [P16520-1] |
3D structure databases
SMRi | P16520 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 109046, 35 interactors |
CORUMi | P16520 |
DIPi | DIP-601N |
IntActi | P16520, 11 interactors |
MINTi | P16520 |
STRINGi | 9606.ENSP00000229264 |
PTM databases
iPTMneti | P16520 |
PhosphoSitePlusi | P16520 |
SwissPalmi | P16520 |
Polymorphism and mutation databases
BioMutai | GNB3 |
DMDMi | 121011 |
2D gel databases
OGPi | P16520 |
Proteomic databases
jPOSTi | P16520 |
MassIVEi | P16520 |
MaxQBi | P16520 |
PaxDbi | P16520 |
PeptideAtlasi | P16520 |
PRIDEi | P16520 |
ProteomicsDBi | 53379 [P16520-1] |
Protocols and materials databases
Antibodypediai | 1080, 211 antibodies |
DNASUi | 2784 |
Genome annotation databases
Ensembli | ENST00000229264; ENSP00000229264; ENSG00000111664 [P16520-1] |
GeneIDi | 2784 |
KEGGi | hsa:2784 |
UCSCi | uc001qrd.3, human [P16520-1] |
Organism-specific databases
CTDi | 2784 |
DisGeNETi | 2784 |
EuPathDBi | HostDB:ENSG00000111664.10 |
GeneCardsi | GNB3 |
HGNCi | HGNC:4400, GNB3 |
HPAi | ENSG00000111664, Group enriched (pituitary gland, retina) |
MalaCardsi | GNB3 |
MIMi | 139130, gene 617024, phenotype |
neXtProti | NX_P16520 |
OpenTargetsi | ENSG00000111664 |
Orphaneti | 215, Congenital stationary night blindness |
PharmGKBi | PA176 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0286, Eukaryota |
GeneTreei | ENSGT01000000214413 |
InParanoidi | P16520 |
OMAi | CDFTAKL |
OrthoDBi | 704786at2759 |
PhylomeDBi | P16520 |
TreeFami | TF106149 |
Enzyme and pathway databases
PathwayCommonsi | P16520 |
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 |
SignaLinki | P16520 |
SIGNORi | P16520 |
Miscellaneous databases
BioGRID-ORCSi | 2784, 10 hits in 843 CRISPR screens |
ChiTaRSi | GNB3, human |
GeneWikii | GNB3 |
GenomeRNAii | 2784 |
Pharosi | P16520, Tbio |
PROi | PR:P16520 |
RNActi | P16520, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000111664, Expressed in pituitary gland and 164 other tissues |
ExpressionAtlasi | P16520, baseline and differential |
Genevisiblei | P16520, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
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 |
PANTHERi | PTHR19850, PTHR19850, 1 hit |
Pfami | View protein in Pfam PF00400, WD40, 7 hits |
PRINTSi | PR00319, GPROTEINB PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00320, WD40, 7 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS00678, WD_REPEATS_1, 3 hits PS50082, WD_REPEATS_2, 5 hits PS50294, WD_REPEATS_REGION, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GBB3_HUMAN | |
Accessioni | P16520Primary (citable) accession number: P16520 Secondary accession number(s): Q96B71, Q9BQC0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 1, 1990 |
Last sequence update: | August 1, 1990 | |
Last modified: | December 2, 2020 | |
This is version 211 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations