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UniProtKB - P16520 (GBB3_HUMAN)

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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: -Experimental evidence at protein leveli

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

  • GTPase activity Source: ProtInc
  • GTPase binding Source: UniProtKB
  • spectrin binding Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cell volume homeostasis Source: ARUK-UCL
  • G-protein coupled receptor signaling pathway Source: ProtInc
  • 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
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionTransducer

Enzyme and pathway databases

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-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
SignaLinkiP16520
SIGNORiP16520

Names & Taxonomyi

Protein namesi
Recommended name:
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3
Alternative name(s):
Transducin beta chain 3
Gene namesi
Name:GNB3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111664.10
HGNCiHGNC:4400 GNB3
MIMi139130 gene
neXtProtiNX_P16520

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; Source: COMPARTMENTS

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.
See also OMIM:617024
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi2784
MalaCardsiGNB3
MIMi617024 phenotype
OpenTargetsiENSG00000111664
PharmGKBiPA176

Polymorphism and mutation databases

BioMutaiGNB3
DMDMi121011

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001276991 – 340Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3Add BLAST340

Proteomic databases

EPDiP16520
MaxQBiP16520
PaxDbiP16520
PeptideAtlasiP16520
PRIDEiP16520
ProteomicsDBi53379

2D gel databases

OGPiP16520

PTM databases

iPTMnetiP16520
PhosphoSitePlusiP16520
SwissPalmiP16520

Expressioni

Gene expression databases

BgeeiENSG00000111664
CleanExiHS_GNB3
ExpressionAtlasiP16520 baseline and differential
GenevisibleiP16520 HS

Organism-specific databases

HPAiHPA040736

Interactioni

Subunit structurei

G proteins are composed of 3 units, alpha, beta and gamma. Interacts with RASD2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CXCR5P323023EBI-2880663,EBI-2835269

GO - Molecular functioni

  • GTPase binding Source: UniProtKB
  • spectrin binding Source: Ensembl
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi109046, 31 interactors
DIPiDIP-601N
IntActiP16520, 7 interactors
MINTiP16520
STRINGi9606.ENSP00000229264

Structurei

3D structure databases

ProteinModelPortaliP16520
SMRiP16520
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Sequence similaritiesi

Belongs to the WD repeat G protein beta family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0286 Eukaryota
ENOG410XQUX LUCA
GeneTreeiENSGT00760000119239
HOGENOMiHOG000176356
HOVERGENiHBG000188
InParanoidiP16520
KOiK07825
OMAiNMCSIYS
OrthoDBiEOG091G0A7T
PhylomeDBiP16520
TreeFamiTF106149

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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.

Note: No experimental confirmation available.
Show »
Length:297
Mass (Da):32,633
Checksum:i6A533D5BF825B273
GO

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
Alternative sequenceiVSP_055233236 – 278Missing in isoform 2. 1 PublicationAdd BLAST43

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
CCDSiCCDS8564.1 [P16520-1]
PIRiA35096 RGHUB3
RefSeqiNP_001284500.1, NM_001297571.1
NP_002066.1, NM_002075.3 [P16520-1]
UniGeneiHs.631657

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGBB3_HUMAN
AccessioniPrimary (citable) accession number: P16520
Secondary accession number(s): Q96B71, Q9BQC0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: August 1, 1990
Last modified: July 18, 2018
This is version 192 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

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

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