GNB5B_DANRE
ID GNB5B_DANRE Reviewed; 395 AA.
AC Q6PBY0;
DT 10-MAY-2017, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Guanine nucleotide-binding protein subunit beta-5b;
GN Name=gnb5b {ECO:0000312|ZFIN:ZDB-GENE-040426-1712};
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=27523599; DOI=10.1016/j.ajhg.2016.06.025;
RA Lodder E.M., De Nittis P., Koopman C.D., Wiszniewski W.,
RA Moura de Souza C.F., Lahrouchi N., Guex N., Napolioni V., Tessadori F.,
RA Beekman L., Nannenberg E.A., Boualla L., Blom N.A., de Graaff W.,
RA Kamermans M., Cocciadiferro D., Malerba N., Mandriani B., Akdemir Z.H.,
RA Fish R.J., Eldomery M.K., Ratbi I., Wilde A.A., de Boer T., Simonds W.F.,
RA Neerman-Arbez M., Sutton V.R., Kok F., Lupski J.R., Reymond A.,
RA Bezzina C.R., Bakkers J., Merla G.;
RT "GNB5 mutations cause an autosomal-recessive multisystem syndrome with
RT sinus bradycardia and cognitive disability.";
RL Am. J. Hum. Genet. 99:704-710(2016).
CC -!- FUNCTION: Enhances GTPase-activating protein (GAP) activity of
CC regulator of G protein signaling (RGS) proteins, hence involved in the
CC termination of the signaling initiated by the G protein coupled
CC receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha
CC subunits, thereby promoting their inactivation (Probable). Increases
CC RGS9 GTPase-activating protein (GAP) activity, hence contributes to the
CC deactivation of G protein signaling initiated by D(2) dopamine
CC receptors (By similarity). Along with gnb5b, plays an important role in
CC neuronal signaling, including in the parasympathetic, but not
CC sympathetic, control of heart rate (PubMed:27523599).
CC {ECO:0000250|UniProtKB:O14775, ECO:0000269|PubMed:27523599,
CC ECO:0000305}.
CC -!- SUBUNIT: May interact with RGS9; this interaction stabilizes both
CC proteins and increases RGS9 GTPase-activating protein (GAP) activity,
CC hence accelerating the deactivation of D(2) dopamine receptor-mediated
CC signaling. {ECO:0000250|UniProtKB:O14775}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:P62881}.
CC -!- DISRUPTION PHENOTYPE: No visible phenotype; due to the redundancy with
CC gnb5a. Simultaneous knockout of gnb5a and gnb5b results in no striking
CC dysmorphologic features, but the larvae show impaired swimming
CC activity, remain small, and generally die 7-14 days post fertilization
CC (dpf), most likely as a result of their inability to feed.
CC {ECO:0000269|PubMed:27523599}.
CC -!- SIMILARITY: Belongs to the WD repeat G protein beta family.
CC {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AL935189; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC059544; AAH59544.1; -; mRNA.
DR RefSeq; NP_957040.1; NM_200746.1.
DR AlphaFoldDB; Q6PBY0; -.
DR SMR; Q6PBY0; -.
DR STRING; 7955.ENSDARP00000072190; -.
DR PaxDb; Q6PBY0; -.
DR Ensembl; ENSDART00000077724; ENSDARP00000072190; ENSDARG00000055377.
DR GeneID; 393719; -.
DR KEGG; dre:393719; -.
DR CTD; 393719; -.
DR ZFIN; ZDB-GENE-040426-1712; gnb5b.
DR eggNOG; KOG0286; Eukaryota.
DR GeneTree; ENSGT01000000214413; -.
DR HOGENOM; CLU_000288_57_34_1; -.
DR InParanoid; Q6PBY0; -.
DR OMA; ITLPCTW; -.
DR OrthoDB; 704786at2759; -.
DR PhylomeDB; Q6PBY0; -.
DR TreeFam; TF106149; -.
DR PRO; PR:Q6PBY0; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 18.
DR Bgee; ENSDARG00000055377; Expressed in heart and 16 other tissues.
DR ExpressionAtlas; Q6PBY0; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005834; C:heterotrimeric G-protein complex; IBA:GO_Central.
DR GO; GO:0030159; F:signaling receptor complex adaptor activity; IBA:GO_Central.
DR GO; GO:0007212; P:dopamine receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0007186; P:G protein-coupled receptor signaling pathway; IBA:GO_Central.
DR Gene3D; 2.130.10.10; -; 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; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR19850; PTHR19850; 1.
DR Pfam; PF00400; WD40; 4.
DR PRINTS; PR00319; GPROTEINB.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 3.
DR PROSITE; PS50082; WD_REPEATS_2; 6.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 2: Evidence at transcript level;
KW Membrane; Reference proteome; Repeat; Transducer; WD repeat.
FT CHAIN 1..395
FT /note="Guanine nucleotide-binding protein subunit beta-5b"
FT /id="PRO_0000439760"
FT REPEAT 103..142
FT /note="WD 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00221"
FT REPEAT 145..184
FT /note="WD 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00221"
FT REPEAT 193..234
FT /note="WD 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00221"
FT REPEAT 235..276
FT /note="WD 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00221"
FT REPEAT 279..318
FT /note="WD 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00221"
FT REPEAT 320..362
FT /note="WD 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00221"
FT REPEAT 365..395
FT /note="WD 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00221"
SQ SEQUENCE 395 AA; 43440 MW; 87724F1F4B1BCD89 CRC64;
MCDQTFLAIT FGPCDKCSEN KPLMNIYLKN EPINYCSLCV EMMACQGLAK GETVQSLKAE
SESLKAKLEE ERAKLHDVEL HQVAEKMEAL GQFVMKTRRT LKGHGNKVLC MDWCRDKRRI
VSSSQDGKVI VWDAYTTNKE HAVTMPCTWV MACAYAPSGC AVACGGLDNK CSVYPLSLDK
NENLASKKKS VAMHTNYLSS CSFTKSDMQI LTSSGDGTCA LWDVESGQLL QSFHGHSADV
LSLDLAPSET GSTFVSGGCD KKANVWDMRS GQNVQSFETH DSDINSVKYY PSGDAFASGS
DDATCRLYDL RADREVAIYS KDSIIFGASS VDFSLSGRLL FAGYNDYNIN VWDVLKGTRV
AILFGHENRV STVRVSPDGT AFCSGSWDNT LRIWA
