ID   BBS1_MOUSE              Reviewed;         593 AA.
AC   Q3V3N7;
DT   05-JUL-2017, integrated into UniProtKB/Swiss-Prot.
DT   11-OCT-2005, sequence version 1.
DT   24-JAN-2024, entry version 129.
DE   RecName: Full=Bardet-Biedl syndrome 1 protein homolog;
GN   Name=Bbs1;
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC   Murinae; Mus; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   STRAIN=C57BL/6J; TISSUE=Thymus;
RX   PubMed=16141072; DOI=10.1126/science.1112014;
RA   Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA   Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA   Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA   Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA   Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA   Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA   Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA   Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA   Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA   Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA   Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA   Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA   Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA   Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA   Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA   Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA   Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA   Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA   Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA   Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA   Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA   Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA   Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA   Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA   Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA   van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA   Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA   Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA   Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA   Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA   Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA   Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA   Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA   Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT   "The transcriptional landscape of the mammalian genome.";
RL   Science 309:1559-1563(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=C57BL/6J; TISSUE=Thymus;
RX   PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA   Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA   Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA   Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA   Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA   Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA   Eichler E.E., Ponting C.P.;
RT   "Lineage-specific biology revealed by a finished genome assembly of the
RT   mouse.";
RL   PLoS Biol. 7:E1000112-E1000112(2009).
RN   [3]
RP   FUNCTION, AND DISRUPTION PHENOTYPE.
RX   PubMed=15322545; DOI=10.1038/ng1418;
RA   Kulaga H.M., Leitch C.C., Eichers E.R., Badano J.L., Lesemann A.,
RA   Hoskins B.E., Lupski J.R., Beales P.L., Reed R.R., Katsanis N.;
RT   "Loss of BBS proteins causes anosmia in humans and defects in olfactory
RT   cilia structure and function in the mouse.";
RL   Nat. Genet. 36:994-998(2004).
RN   [4]
RP   MUTAGENESIS OF MET-390.
RX   PubMed=18032602; DOI=10.1073/pnas.0708571104;
RA   Davis R.E., Swiderski R.E., Rahmouni K., Nishimura D.Y., Mullins R.F.,
RA   Agassandian K., Philp A.R., Searby C.C., Andrews M.P., Thompson S.,
RA   Berry C.J., Thedens D.R., Yang B., Weiss R.M., Cassell M.D., Stone E.M.,
RA   Sheffield V.C.;
RT   "A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has
RT   cilia defects, ventriculomegaly, retinopathy, and obesity.";
RL   Proc. Natl. Acad. Sci. U.S.A. 104:19422-19427(2007).
RN   [5]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Testis;
RX   PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA   Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA   Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT   "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL   Cell 143:1174-1189(2010).
RN   [6]
RP   FUNCTION, AND DISRUPTION PHENOTYPE.
RX   PubMed=28237838; DOI=10.1016/j.ymthe.2017.02.006;
RA   Williams C.L., Uytingco C.R., Green W.W., McIntyre J.C., Ukhanov K.,
RA   Zimmerman A.D., Shively D.T., Zhang L., Nishimura D.Y., Sheffield V.C.,
RA   Martens J.R.;
RT   "Gene therapeutic reversal of peripheral olfactory impairment in Bardet-
RT   Biedl syndrome.";
RL   Mol. Ther. 25:904-916(2017).
CC   -!- FUNCTION: The BBSome complex is thought to function as a coat complex
CC       required for sorting of specific membrane proteins to the primary
CC       cilia. The BBSome complex is required for ciliogenesis but is
CC       dispensable for centriolar satellite function. This ciliogenic function
CC       is mediated in part by the Rab8 GDP/GTP exchange factor, which
CC       localizes to the basal body and contacts the BBSome. Rab8(GTP) enters
CC       the primary cilium and promotes extension of the ciliary membrane.
CC       Firstly the BBSome associates with the ciliary membrane and binds to
CC       RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the
CC       Rab8-GTP localizes to the cilium and promotes docking and fusion of
CC       carrier vesicles to the base of the ciliary membrane. The BBSome
CC       complex, together with the LTZL1, controls SMO ciliary trafficking and
CC       contributes to the sonic hedgehog (SHH) pathway regulation. Required
CC       for proper BBSome complex assembly (By similarity). Plays a role in
CC       olfactory cilium biogenesis/maintenance and trafficking and is
CC       essential for the localization of the BBSome complex in the olfactory
CC       sensory neurons cilia (PubMed:15322545, PubMed:28237838).
CC       {ECO:0000250|UniProtKB:Q8NFJ9, ECO:0000269|PubMed:15322545,
CC       ECO:0000269|PubMed:28237838}.
CC   -!- SUBUNIT: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5,
CC       BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with the C-terminus of
CC       RAB3IP. Interacts with CCDC28B and ALDOB. Interacts with PKD1.
CC       {ECO:0000250|UniProtKB:Q8NFJ9}.
CC   -!- INTERACTION:
CC       Q3V3N7; Q8C1Z7: Bbs4; NbExp=5; IntAct=EBI-2892836, EBI-2892887;
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane
CC       {ECO:0000250|UniProtKB:Q8NFJ9}. Cytoplasm
CC       {ECO:0000250|UniProtKB:Q8NFJ9}. Cytoplasm, cytoskeleton, microtubule
CC       organizing center, centrosome, centriolar satellite
CC       {ECO:0000250|UniProtKB:Q8NFJ9}.
CC   -!- DISRUPTION PHENOTYPE: Mice are anosmic (inability to perceive odors)
CC       and have defective olfactory cilia. Significant reduction in olfactory
CC       sensory neurons ciliation in the olfactory epithelium with decreased
CC       cilium length and number. Impaired cilium localization of the BBSome
CC       complex. {ECO:0000269|PubMed:15322545, ECO:0000269|PubMed:28237838}.
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DR   EMBL; AK037753; BAE20519.1; -; mRNA.
DR   EMBL; AC141437; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS29442.1; -.
DR   RefSeq; NP_001028300.1; NM_001033128.3.
DR   AlphaFoldDB; Q3V3N7; -.
DR   SMR; Q3V3N7; -.
DR   ComplexPortal; CPX-1909; BBSome complex.
DR   IntAct; Q3V3N7; 10.
DR   STRING; 10090.ENSMUSP00000055321; -.
DR   iPTMnet; Q3V3N7; -.
DR   PhosphoSitePlus; Q3V3N7; -.
DR   SwissPalm; Q3V3N7; -.
DR   MaxQB; Q3V3N7; -.
DR   PaxDb; 10090-ENSMUSP00000055321; -.
DR   ProteomicsDB; 273440; -.
DR   Pumba; Q3V3N7; -.
DR   Ensembl; ENSMUST00000053506.8; ENSMUSP00000055321.7; ENSMUSG00000006464.10.
DR   GeneID; 52028; -.
DR   KEGG; mmu:52028; -.
DR   UCSC; uc008gbk.2; mouse.
DR   AGR; MGI:1277215; -.
DR   CTD; 582; -.
DR   MGI; MGI:1277215; Bbs1.
DR   VEuPathDB; HostDB:ENSMUSG00000006464; -.
DR   eggNOG; ENOG502QS2X; Eukaryota.
DR   GeneTree; ENSGT00390000005232; -.
DR   HOGENOM; CLU_032988_1_0_1; -.
DR   InParanoid; Q3V3N7; -.
DR   OMA; HADRRHY; -.
DR   OrthoDB; 5488766at2759; -.
DR   PhylomeDB; Q3V3N7; -.
DR   TreeFam; TF312892; -.
DR   Reactome; R-MMU-5620922; BBSome-mediated cargo-targeting to cilium.
DR   BioGRID-ORCS; 52028; 2 hits in 76 CRISPR screens.
DR   PRO; PR:Q3V3N7; -.
DR   Proteomes; UP000000589; Chromosome 19.
DR   RNAct; Q3V3N7; Protein.
DR   Bgee; ENSMUSG00000006464; Expressed in embryonic brain and 172 other cell types or tissues.
DR   ExpressionAtlas; Q3V3N7; baseline and differential.
DR   GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR   GO; GO:0034464; C:BBSome; IDA:MGI.
DR   GO; GO:0034451; C:centriolar satellite; IDA:MGI.
DR   GO; GO:0005813; C:centrosome; IDA:MGI.
DR   GO; GO:0036064; C:ciliary basal body; ISO:MGI.
DR   GO; GO:0060170; C:ciliary membrane; ISO:MGI.
DR   GO; GO:0005929; C:cilium; IDA:MGI.
DR   GO; GO:0031514; C:motile cilium; IMP:BHF-UCL.
DR   GO; GO:0005113; F:patched binding; ISO:MGI.
DR   GO; GO:0051219; F:phosphoprotein binding; IPI:MGI.
DR   GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; ISO:MGI.
DR   GO; GO:0005102; F:signaling receptor binding; IPI:BHF-UCL.
DR   GO; GO:0005119; F:smoothened binding; ISO:MGI.
DR   GO; GO:0030534; P:adult behavior; IMP:MGI.
DR   GO; GO:0048854; P:brain morphogenesis; IMP:MGI.
DR   GO; GO:0051216; P:cartilage development; IMP:MGI.
DR   GO; GO:0044255; P:cellular lipid metabolic process; IMP:MGI.
DR   GO; GO:0021987; P:cerebral cortex development; IMP:MGI.
DR   GO; GO:0060271; P:cilium assembly; IMP:BHF-UCL.
DR   GO; GO:0016358; P:dendrite development; IMP:MGI.
DR   GO; GO:0045444; P:fat cell differentiation; IEP:BHF-UCL.
DR   GO; GO:0009566; P:fertilization; IMP:MGI.
DR   GO; GO:0043001; P:Golgi to plasma membrane protein transport; ISO:MGI.
DR   GO; GO:0021766; P:hippocampus development; IMP:MGI.
DR   GO; GO:0042445; P:hormone metabolic process; IMP:MGI.
DR   GO; GO:0035721; P:intraciliary retrograde transport; ISO:MGI.
DR   GO; GO:0000226; P:microtubule cytoskeleton organization; IMP:MGI.
DR   GO; GO:0061351; P:neural precursor cell proliferation; IMP:MGI.
DR   GO; GO:0001764; P:neuron migration; IMP:MGI.
DR   GO; GO:1905515; P:non-motile cilium assembly; IMP:MGI.
DR   GO; GO:0042048; P:olfactory behavior; IMP:MGI.
DR   GO; GO:0045494; P:photoreceptor cell maintenance; ISO:MGI.
DR   GO; GO:0008594; P:photoreceptor cell morphogenesis; IMP:MGI.
DR   GO; GO:0008104; P:protein localization; IMP:MGI.
DR   GO; GO:0061512; P:protein localization to cilium; ISO:MGI.
DR   GO; GO:0060296; P:regulation of cilium beat frequency involved in ciliary motility; IMP:BHF-UCL.
DR   GO; GO:0001895; P:retina homeostasis; IMP:MGI.
DR   GO; GO:0007608; P:sensory perception of smell; IMP:MGI.
DR   GO; GO:0021756; P:striatum development; IMP:MGI.
DR   GO; GO:0021591; P:ventricular system development; IMP:MGI.
DR   GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR   InterPro; IPR028784; BBS1.
DR   InterPro; IPR032728; BBS1_N.
DR   InterPro; IPR011047; Quinoprotein_ADH-like_supfam.
DR   PANTHER; PTHR20870; BARDET-BIEDL SYNDROME 1 PROTEIN; 1.
DR   PANTHER; PTHR20870:SF0; BARDET-BIEDL SYNDROME 1 PROTEIN; 1.
DR   Pfam; PF14779; BBS1; 1.
DR   SUPFAM; SSF50998; Quinoprotein alcohol dehydrogenase-like; 1.
PE   1: Evidence at protein level;
KW   Acetylation; Cell membrane; Cell projection; Cilium;
KW   Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Membrane;
KW   Olfaction; Protein transport; Reference proteome; Sensory transduction;
KW   Transport; Vision.
FT   INIT_MET        1
FT                   /note="Removed"
FT                   /evidence="ECO:0000250|UniProtKB:Q8NFJ9"
FT   CHAIN           2..593
FT                   /note="Bardet-Biedl syndrome 1 protein homolog"
FT                   /id="PRO_0000441016"
FT   MOD_RES         2
FT                   /note="N-acetylalanine"
FT                   /evidence="ECO:0000250|UniProtKB:Q8NFJ9"
FT   MUTAGEN         390
FT                   /note="M->R: Knockin mice exhibit olfaction deficits, male
FT                   infertility, ventriculomegaly, retinopathy and obesity."
FT                   /evidence="ECO:0000269|PubMed:18032602"
SQ   SEQUENCE   593 AA;  65094 MW;  322E9DD4DD554813 CRC64;
     MAAASSSDSD SGRAESNEAN SKWLDAHYDP MANIHTFSSC LSLADLHGDG EYKLVVGDLG
     PGGQQPRLKV LKGPTVLTES PLPALPASAA TFLMDQHEPR TPALALASGP CVYVYKNLRP
     YFKFSLPQLP PNPLEQDVWN QAKEDQIDPL TLKEMLEDIR EKADVPLSVQ SLRFLQLELS
     EMEAFVNQHK SKVIKRQTVI TTMTTLKKNL ADEDAASCLV LGTESKELLV LDPEAFTILA
     KMSLPSVPVF LEVSGQFDVE FRLTAACRNG SIYILRRDSK HPKYCIELSA QPVGLVRVHK
     VLVVGSTQES LHGFTHKGKK LWTVQMPAAI LTMNLLEQRS RGLQAVMAAL ANGEVRIYRD
     KALLNVIHAP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GTGEVGPPLA
     QTTKLSVPRK TRLYVDQTLR EREAGTAMHR TFQTDLYLLR LRAARAYVQA LESSLSPMST
     TAREPLKLHA VVQGLGPTFK LTLHLQNTST ARPVLGLHVC FLYNKALYAL PQAFFKVPLL
     VPGLSYPLET FVESLSSKGI SDMIKVLVLR EGQSAPLLSA HINMPVSEGL AAA
//