ID GBB3_HUMAN Reviewed; 340 AA.
AC P16520; Q96B71; Q9BQC0;
DT 01-AUG-1990, integrated into UniProtKB/Swiss-Prot.
DT 01-AUG-1990, sequence version 1.
DT 27-MAR-2024, entry version 227.
DE RecName: Full=Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3;
DE AltName: Full=Transducin beta chain 3;
GN Name=GNB3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=2107550; DOI=10.1073/pnas.87.6.2329;
RA Levine M.A., Smallwood P.M., Moen P.T. Jr., Helman L.J., Ahn T.G.;
RT "Molecular cloning of beta 3 subunit, a third form of the G protein beta-
RT subunit polypeptide.";
RL Proc. Natl. Acad. Sci. U.S.A. 87:2329-2333(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
RX PubMed=8723724; DOI=10.1101/gr.6.4.314;
RA Ansari-Lari M.A., Muzny D.M., Lu J., Lu F., Lilley C.E., Spanos S.,
RA Malley T., Gibbs R.A.;
RT "A gene-rich cluster between the CD4 and triosephosphate isomerase genes at
RT human chromosome 12p13.";
RL Genome Res. 6:314-326(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Brain;
RX PubMed=9074930; DOI=10.1101/gr.7.3.268;
RA Ansari-Lari M.A., Shen Y., Muzny D.M., Lee W., Gibbs R.A.;
RT "Large-scale sequencing in human chromosome 12p13: experimental and
RT computational gene structure determination.";
RL Genome Res. 7:268-280(1997).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10904009; DOI=10.1161/01.hyp.36.1.33;
RA Rosskopf D., Busch S., Manthey I., Siffert W.;
RT "G protein beta 3 gene: structure, promoter, and additional
RT polymorphisms.";
RL Hypertension 36:33-41(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RA Puhl H.L. III, Ikeda S.R., Aronstam R.S.;
RT "cDNA clones of human proteins involved in signal transduction sequenced by
RT the Guthrie cDNA resource center (www.cdna.org).";
RL Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT SER-272.
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RG SeattleSNPs variation discovery resource;
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP SER-272.
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP PROTEIN SEQUENCE OF 69-78 AND 90-96, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RC TISSUE=Colon carcinoma;
RA Bienvenut W.V., Heiserich L., Gottlieb E.;
RL Submitted (MAR-2008) to UniProtKB.
RN [10]
RP INTERACTION WITH RASD2.
RX PubMed=19255495; DOI=10.1159/000204075;
RA Hill C., Goddard A., Ladds G., Davey J.;
RT "The cationic region of Rhes mediates its interactions with specific Gbeta
RT subunits.";
RL Cell. Physiol. Biochem. 23:1-8(2009).
RN [11]
RP INVOLVEMENT IN CSNB1H, AND VARIANTS CSNB1H LYS-57 DEL AND PHE-67.
RX PubMed=27063057; DOI=10.1016/j.ajhg.2016.03.021;
RG GNB3 Consortium;
RA Vincent A., Audo I., Tavares E., Maynes J.T., Tumber A., Wright T., Li S.,
RA Michiels C., Condroyer C., MacDonald H., Verdet R., Sahel J.A., Hamel C.P.,
RA Zeitz C., Heon E.;
RT "Biallelic mutations in GNB3 cause a unique form of autosomal-recessive
RT congenital stationary night blindness.";
RL Am. J. Hum. Genet. 98:1011-1019(2016).
CC -!- FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved
CC as a modulator or transducer in various transmembrane signaling
CC systems. The beta and gamma chains are required for the GTPase
CC activity, for replacement of GDP by GTP, and for G protein-effector
CC interaction.
CC -!- SUBUNIT: G proteins are composed of 3 units, alpha, beta and gamma.
CC Interacts with RASD2. {ECO:0000269|PubMed:19255495}.
CC -!- INTERACTION:
CC P16520; P32302: CXCR5; NbExp=3; IntAct=EBI-2880663, EBI-2835269;
CC P16520-2; Q9UHD4: CIDEB; NbExp=3; IntAct=EBI-17871073, EBI-7062247;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P16520-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P16520-2; Sequence=VSP_055233;
CC -!- DISEASE: Night blindness, congenital stationary, 1H (CSNB1H)
CC [MIM:617024]: A form of congenital stationary night blindness, a non-
CC progressive retinal disorder characterized by impaired night vision or
CC in dim light, with good vision only on bright days. CSNB1H patients
CC present with childhood-onset night blindness and middle age-onset
CC photophobia, but have near-normal vision and do not exhibit nystagmus
CC or high myopia. CSNB1H inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:27063057}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the WD repeat G protein beta family.
CC {ECO:0000305}.
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DR EMBL; M31328; AAA52582.1; -; mRNA.
DR EMBL; U47924; AAB51313.1; -; Genomic_DNA.
DR EMBL; U47930; AAC50468.1; -; mRNA.
DR EMBL; Y12050; CAA72779.1; -; Genomic_DNA.
DR EMBL; Y12051; CAA72779.1; JOINED; Genomic_DNA.
DR EMBL; Y12052; CAA72779.1; JOINED; Genomic_DNA.
DR EMBL; Y12053; CAA72779.1; JOINED; Genomic_DNA.
DR EMBL; Y12054; CAA72779.1; JOINED; Genomic_DNA.
DR EMBL; Y12055; CAA72779.1; JOINED; Genomic_DNA.
DR EMBL; Y12056; CAA72779.1; JOINED; Genomic_DNA.
DR EMBL; Y12057; CAA72779.1; JOINED; Genomic_DNA.
DR EMBL; Y12058; CAA72779.1; JOINED; Genomic_DNA.
DR EMBL; AF501884; AAM15920.1; -; mRNA.
DR EMBL; BT009800; AAP88802.1; -; mRNA.
DR EMBL; AY631872; AAT38116.1; -; Genomic_DNA.
DR EMBL; BC000115; AAH00115.1; -; mRNA.
DR EMBL; BC002454; AAH02454.1; -; mRNA.
DR EMBL; BC015920; AAH15920.1; -; mRNA.
DR CCDS; CCDS8564.1; -. [P16520-1]
DR PIR; A35096; RGHUB3.
DR RefSeq; NP_001284500.1; NM_001297571.1.
DR RefSeq; NP_002066.1; NM_002075.3. [P16520-1]
DR AlphaFoldDB; P16520; -.
DR SMR; P16520; -.
DR BioGRID; 109046; 60.
DR CORUM; P16520; -.
DR DIP; DIP-601N; -.
DR IntAct; P16520; 12.
DR MINT; P16520; -.
DR STRING; 9606.ENSP00000229264; -.
DR iPTMnet; P16520; -.
DR PhosphoSitePlus; P16520; -.
DR SwissPalm; P16520; -.
DR BioMuta; GNB3; -.
DR DMDM; 121011; -.
DR OGP; P16520; -.
DR jPOST; P16520; -.
DR MassIVE; P16520; -.
DR MaxQB; P16520; -.
DR PaxDb; 9606-ENSP00000229264; -.
DR PeptideAtlas; P16520; -.
DR ProteomicsDB; 53379; -. [P16520-1]
DR Antibodypedia; 1080; 261 antibodies from 35 providers.
DR DNASU; 2784; -.
DR Ensembl; ENST00000229264.8; ENSP00000229264.3; ENSG00000111664.11. [P16520-1]
DR GeneID; 2784; -.
DR KEGG; hsa:2784; -.
DR MANE-Select; ENST00000229264.8; ENSP00000229264.3; NM_002075.4; NP_002066.1.
DR UCSC; uc001qrd.3; human. [P16520-1]
DR AGR; HGNC:4400; -.
DR CTD; 2784; -.
DR DisGeNET; 2784; -.
DR GeneCards; GNB3; -.
DR HGNC; HGNC:4400; GNB3.
DR HPA; ENSG00000111664; Tissue enriched (retina).
DR MalaCards; GNB3; -.
DR MIM; 139130; gene.
DR MIM; 617024; phenotype.
DR neXtProt; NX_P16520; -.
DR OpenTargets; ENSG00000111664; -.
DR Orphanet; 215; Congenital stationary night blindness.
DR PharmGKB; PA176; -.
DR VEuPathDB; HostDB:ENSG00000111664; -.
DR eggNOG; KOG0286; Eukaryota.
DR GeneTree; ENSGT01000000214413; -.
DR InParanoid; P16520; -.
DR OMA; AKIYACH; -.
DR OrthoDB; 102097at2759; -.
DR PhylomeDB; P16520; -.
DR TreeFam; TF106149; -.
DR PathwayCommons; P16520; -.
DR Reactome; R-HSA-1296041; Activation of G protein gated Potassium channels.
DR Reactome; R-HSA-163359; Glucagon signaling in metabolic regulation.
DR Reactome; R-HSA-202040; G-protein activation.
DR Reactome; R-HSA-381676; Glucagon-like Peptide-1 (GLP1) regulates insulin secretion.
DR Reactome; R-HSA-381771; Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1).
DR Reactome; R-HSA-392170; ADP signalling through P2Y purinoceptor 12.
DR Reactome; R-HSA-392451; G beta:gamma signalling through PI3Kgamma.
DR Reactome; R-HSA-392851; Prostacyclin signalling through prostacyclin receptor.
DR Reactome; R-HSA-400042; Adrenaline,noradrenaline inhibits insulin secretion.
DR Reactome; R-HSA-4086398; Ca2+ pathway.
DR Reactome; R-HSA-416476; G alpha (q) signalling events.
DR Reactome; R-HSA-416482; G alpha (12/13) signalling events.
DR Reactome; R-HSA-418217; G beta:gamma signalling through PLC beta.
DR Reactome; R-HSA-418555; G alpha (s) signalling events.
DR Reactome; R-HSA-418592; ADP signalling through P2Y purinoceptor 1.
DR Reactome; R-HSA-418594; G alpha (i) signalling events.
DR Reactome; R-HSA-418597; G alpha (z) signalling events.
DR Reactome; R-HSA-420092; Glucagon-type ligand receptors.
DR Reactome; R-HSA-428930; Thromboxane signalling through TP receptor.
DR Reactome; R-HSA-432040; Vasopressin regulates renal water homeostasis via Aquaporins.
DR Reactome; R-HSA-456926; Thrombin signalling through proteinase activated receptors (PARs).
DR Reactome; R-HSA-500657; Presynaptic function of Kainate receptors.
DR Reactome; R-HSA-6814122; Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding.
DR Reactome; R-HSA-8964315; G beta:gamma signalling through BTK.
DR Reactome; R-HSA-8964616; G beta:gamma signalling through CDC42.
DR Reactome; R-HSA-9009391; Extra-nuclear estrogen signaling.
DR Reactome; R-HSA-9634597; GPER1 signaling.
DR Reactome; R-HSA-9660821; ADORA2B mediated anti-inflammatory cytokines production.
DR Reactome; R-HSA-9717207; Sensory perception of sweet, bitter, and umami (glutamate) taste.
DR Reactome; R-HSA-997272; Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits.
DR SignaLink; P16520; -.
DR SIGNOR; P16520; -.
DR BioGRID-ORCS; 2784; 18 hits in 1153 CRISPR screens.
DR ChiTaRS; GNB3; human.
DR GeneWiki; GNB3; -.
DR GenomeRNAi; 2784; -.
DR Pharos; P16520; Tbio.
DR PRO; PR:P16520; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; P16520; Protein.
DR Bgee; ENSG00000111664; Expressed in adenohypophysis and 119 other cell types or tissues.
DR ExpressionAtlas; P16520; baseline and differential.
DR Genevisible; P16520; HS.
DR GO; GO:0044297; C:cell body; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0030425; C:dendrite; IEA:Ensembl.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005834; C:heterotrimeric G-protein complex; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0003924; F:GTPase activity; TAS:ProtInc.
DR GO; GO:0051020; F:GTPase binding; IPI:UniProtKB.
DR GO; GO:0030159; F:signaling receptor complex adaptor activity; IBA:GO_Central.
DR GO; GO:0030507; F:spectrin binding; IEA:Ensembl.
DR GO; GO:0006884; P:cell volume homeostasis; IGI:ARUK-UCL.
DR GO; GO:0007186; P:G protein-coupled receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0008217; P:regulation of blood pressure; TAS:ProtInc.
DR GO; GO:0090181; P:regulation of cholesterol metabolic process; IGI:ARUK-UCL.
DR GO; GO:0045598; P:regulation of fat cell differentiation; IGI:ARUK-UCL.
DR GO; GO:0010468; P:regulation of gene expression; IGI:ARUK-UCL.
DR GO; GO:0010906; P:regulation of glucose metabolic process; IGI:ARUK-UCL.
DR GO; GO:0032350; P:regulation of hormone metabolic process; IGI:ARUK-UCL.
DR GO; GO:1903725; P:regulation of phospholipid metabolic process; IGI:ARUK-UCL.
DR GO; GO:0090207; P:regulation of triglyceride metabolic process; IGI:ARUK-UCL.
DR CDD; cd00200; WD40; 1.
DR Gene3D; 2.130.10.10; YVTN repeat-like/Quinoprotein amine dehydrogenase; 1.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
DR InterPro; IPR001632; Gprotein_B.
DR InterPro; IPR016346; Guanine_nucleotide-bd_bsu.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR InterPro; IPR001680; WD40_rpt.
DR PANTHER; PTHR19850; GUANINE NUCLEOTIDE-BINDING PROTEIN BETA G PROTEIN BETA; 1.
DR PANTHER; PTHR19850:SF31; GUANINE NUCLEOTIDE-BINDING PROTEIN G(I)_G(S)_G(T) SUBUNIT BETA-3; 1.
DR Pfam; PF00400; WD40; 7.
DR PIRSF; PIRSF002394; GN-bd_beta; 1.
DR PRINTS; PR00319; GPROTEINB.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF50978; WD40 repeat-like; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 3.
DR PROSITE; PS50082; WD_REPEATS_2; 5.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Congenital stationary night blindness;
KW Direct protein sequencing; Disease variant; Reference proteome; Repeat;
KW Transducer; WD repeat.
FT CHAIN 1..340
FT /note="Guanine nucleotide-binding protein G(I)/G(S)/G(T)
FT subunit beta-3"
FT /id="PRO_0000127699"
FT REPEAT 53..83
FT /note="WD 1"
FT REPEAT 95..125
FT /note="WD 2"
FT REPEAT 141..170
FT /note="WD 3"
FT REPEAT 182..212
FT /note="WD 4"
FT REPEAT 224..254
FT /note="WD 5"
FT REPEAT 268..298
FT /note="WD 6"
FT REPEAT 310..340
FT /note="WD 7"
FT VAR_SEQ 236..278
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055233"
FT VARIANT 40
FT /note="V -> M (in dbSNP:rs45569331)"
FT /id="VAR_049268"
FT VARIANT 57
FT /note="Missing (in CSNB1H; dbSNP:rs879253774)"
FT /evidence="ECO:0000269|PubMed:27063057"
FT /id="VAR_077012"
FT VARIANT 67
FT /note="S -> F (in CSNB1H; uncertain significance;
FT dbSNP:rs140263599)"
FT /evidence="ECO:0000269|PubMed:27063057"
FT /id="VAR_077013"
FT VARIANT 76
FT /note="D -> N (in dbSNP:rs2234756)"
FT /id="VAR_014756"
FT VARIANT 81
FT /note="V -> M (in dbSNP:rs45616032)"
FT /id="VAR_049269"
FT VARIANT 272
FT /note="G -> S (in dbSNP:rs5442)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.6"
FT /id="VAR_014757"
FT VARIANT 280
FT /note="L -> F (in dbSNP:rs28395776)"
FT /id="VAR_029304"
FT VARIANT 324
FT /note="G -> E (in dbSNP:rs28395775)"
FT /id="VAR_029305"
FT VARIANT 339
FT /note="W -> L (in dbSNP:rs5444)"
FT /id="VAR_014758"
SQ SEQUENCE 340 AA; 37221 MW; 896E706A61B8D74F CRC64;
MGEMEQLRQE AEQLKKQIAD ARKACADVTL AELVSGLEVV GRVQMRTRRT LRGHLAKIYA
MHWATDSKLL VSASQDGKLI VWDSYTTNKV HAIPLRSSWV MTCAYAPSGN FVACGGLDNM
CSIYNLKSRE GNVKVSRELS AHTGYLSCCR FLDDNNIVTS SGDTTCALWD IETGQQKTVF
VGHTGDCMSL AVSPDFNLFI SGACDASAKL WDVREGTCRQ TFTGHESDIN AICFFPNGEA
ICTGSDDASC RLFDLRADQE LICFSHESII CGITSVAFSL SGRLLFAGYD DFNCNVWDSM
KSERVGILSG HDNRVSCLGV TADGMAVATG SWDSFLKIWN
//
