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Q9CWF6

- BBS2_MOUSE

UniProt

Q9CWF6 - BBS2_MOUSE

Protein

Bardet-Biedl syndrome 2 protein homolog

Gene

Bbs2

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization By similarity.By similarity

    GO - Biological processi

    1. adult behavior Source: MGI
    2. artery smooth muscle contraction Source: MGI
    3. brain morphogenesis Source: MGI
    4. cartilage development Source: MGI
    5. cerebral cortex development Source: MGI
    6. cilium assembly Source: BHF-UCL
    7. cilium morphogenesis Source: BHF-UCL
    8. fat cell differentiation Source: BHF-UCL
    9. Golgi to plasma membrane protein transport Source: Ensembl
    10. hippocampus development Source: MGI
    11. leptin-mediated signaling pathway Source: MGI
    12. negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
    13. negative regulation of gene expression Source: MGI
    14. negative regulation of multicellular organism growth Source: MGI
    15. photoreceptor cell maintenance Source: MGI
    16. positive regulation of multicellular organism growth Source: MGI
    17. protein localization Source: MGI
    18. protein localization to organelle Source: BHF-UCL
    19. regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
    20. response to leptin Source: MGI
    21. sperm axoneme assembly Source: MGI
    22. striatum development Source: MGI
    23. vasodilation Source: MGI

    Keywords - Biological processi

    Cilium biogenesis/degradation, Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bardet-Biedl syndrome 2 protein homolog
    Gene namesi
    Name:Bbs2
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 8

    Organism-specific databases

    MGIiMGI:2135267. Bbs2.

    Subcellular locationi

    GO - Cellular componenti

    1. BBSome Source: UniProtKB
    2. ciliary basal body Source: MGI
    3. ciliary membrane Source: UniProtKB-SubCell
    4. cytoplasm Source: UniProtKB-SubCell
    5. motile cilium Source: BHF-UCL

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

    Pathology & Biotechi

    Disruption phenotypei

    In mice obesity is associated with hyperleptinemia and resistance to the anorectic and weight-reducing effects of leptinan mice are resistant to the metabolic actions of leptin.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 721721Bardet-Biedl syndrome 2 protein homologPRO_0000064844Add
    BLAST

    Proteomic databases

    PaxDbiQ9CWF6.
    PRIDEiQ9CWF6.

    PTM databases

    PhosphoSiteiQ9CWF6.

    Expressioni

    Gene expression databases

    BgeeiQ9CWF6.
    CleanExiMM_BBS2.
    GenevestigatoriQ9CWF6.

    Interactioni

    Subunit structurei

    Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B.1 Publication

    Protein-protein interaction databases

    DIPiDIP-60351N.
    IntActiQ9CWF6. 12 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9CWF6.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili325 – 36945Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG87621.
    GeneTreeiENSGT00390000017113.
    HOGENOMiHOG000007549.
    HOVERGENiHBG031114.
    InParanoidiQ9CWF6.
    KOiK16747.
    OMAiKVDEYHS.
    OrthoDBiEOG7TMZRK.
    PhylomeDBiQ9CWF6.
    TreeFamiTF313236.

    Family and domain databases

    Gene3Di2.130.10.10. 2 hits.
    InterProiIPR016616. Bardet-Biedl_syndrome_2_prot.
    IPR029333. BBS2_C.
    IPR029429. BBS2_Mid.
    IPR029430. BBS2_N.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PANTHERiPTHR32465:SF0. PTHR32465:SF0. 1 hit.
    PfamiPF14782. BBS2_C. 1 hit.
    PF14783. BBS2_Mid. 1 hit.
    PF14781. BBS2_N. 1 hit.
    [Graphical view]
    PIRSFiPIRSF013684. BBS2. 1 hit.
    SUPFAMiSSF50978. SSF50978. 2 hits.

    Sequencei

    Sequence statusi: Complete.

    Q9CWF6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLLPVFTLKL RHKISPRMVA IGRYDGTHPC LAAATQAGKV FIHNPHTRSQ    50
    HFSASRVFQS PLESDVSLLN INQTVSCLGS GVLNPELGYD TLLVGTQTSL 100
    LAYDIYNNSD LFYREVSDGA NAIVLGTLGD IAPPLAIIGG NCALQGFDHE 150
    GNDLFWTVTG DNVHSLALCD FDGDGKTELL VGSEDFDIRV FKEDEIVAEM 200
    TETEIVTSLC PMYGSRFGYA LSNGTVGVYD KTARYWRIKS KNHAMSIHAF 250
    DINSDGVCEL ITGWSNGKVD ARSDRTGEVI FKDNFSSAVA GVVEGDYRMD 300
    GHVQLICCSV DGEIRGYLPG TAEMKGNLLD TSVEQDLIRE LSQKKQNLLL 350
    ELRNYEESTK AELSSPLNEA DGQKGIIPAN TRLHTALSVN MGNDLQDAHA 400
    ELGISTSNDT IIRAVLIFAE GIFVGESHVV HPSIHNLSSS LRVPITPPKD 450
    VPVDLHLKTF VGYRSSTQFH VFELTRQLPR FTMYALTSPD AASEPVSYVN 500
    FSVAERTQRM VTWLNQNFLL PEDSNVQNSP FHVCFTSLRN GGQLYIKMKQ 550
    SGEITVNTDD IDLAGDIIQS IASFFAIEDL QVEADFPVYF EELRKVLVKV 600
    DEYHSVHQKL SADMADNSNL IRSLLVRAED ARLMRDMKTM KSRYMELYDL 650
    NKDLLNGYKI RCNNHTELLG NLKAVNQAIQ RAGRLRVGKP KNQVISACRD 700
    AIRSNNINTL FRIMRVGTAP S 721
    Length:721
    Mass (Da):79,932
    Last modified:June 1, 2001 - v1
    Checksum:iC91D9B7834B614F4
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF342737 mRNA. Translation: AAK28553.1.
    AK010779 mRNA. Translation: BAB27176.1.
    BC057184 mRNA. Translation: AAH57184.1.
    CCDSiCCDS40434.1.
    RefSeqiNP_080392.1. NM_026116.2.
    UniGeneiMm.292107.

    Genome annotation databases

    EnsembliENSMUST00000034206; ENSMUSP00000034206; ENSMUSG00000031755.
    GeneIDi67378.
    KEGGimmu:67378.
    UCSCiuc009mvs.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF342737 mRNA. Translation: AAK28553.1 .
    AK010779 mRNA. Translation: BAB27176.1 .
    BC057184 mRNA. Translation: AAH57184.1 .
    CCDSi CCDS40434.1.
    RefSeqi NP_080392.1. NM_026116.2.
    UniGenei Mm.292107.

    3D structure databases

    ProteinModelPortali Q9CWF6.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-60351N.
    IntActi Q9CWF6. 12 interactions.

    PTM databases

    PhosphoSitei Q9CWF6.

    Proteomic databases

    PaxDbi Q9CWF6.
    PRIDEi Q9CWF6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000034206 ; ENSMUSP00000034206 ; ENSMUSG00000031755 .
    GeneIDi 67378.
    KEGGi mmu:67378.
    UCSCi uc009mvs.1. mouse.

    Organism-specific databases

    CTDi 583.
    MGIi MGI:2135267. Bbs2.

    Phylogenomic databases

    eggNOGi NOG87621.
    GeneTreei ENSGT00390000017113.
    HOGENOMi HOG000007549.
    HOVERGENi HBG031114.
    InParanoidi Q9CWF6.
    KOi K16747.
    OMAi KVDEYHS.
    OrthoDBi EOG7TMZRK.
    PhylomeDBi Q9CWF6.
    TreeFami TF313236.

    Miscellaneous databases

    NextBioi 324396.
    PROi Q9CWF6.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9CWF6.
    CleanExi MM_BBS2.
    Genevestigatori Q9CWF6.

    Family and domain databases

    Gene3Di 2.130.10.10. 2 hits.
    InterProi IPR016616. Bardet-Biedl_syndrome_2_prot.
    IPR029333. BBS2_C.
    IPR029429. BBS2_Mid.
    IPR029430. BBS2_N.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    PANTHERi PTHR32465:SF0. PTHR32465:SF0. 1 hit.
    Pfami PF14782. BBS2_C. 1 hit.
    PF14783. BBS2_Mid. 1 hit.
    PF14781. BBS2_N. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF013684. BBS2. 1 hit.
    SUPFAMi SSF50978. SSF50978. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: Swiss Webster / NIH.
      Tissue: Fetus.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Embryonic stem cell.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: Czech II.
      Tissue: Mammary gland.
    4. "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
      Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
      PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE BBSOME COMPLEX.
    5. "Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome."
      Rahmouni K., Fath M.A., Seo S., Thedens D.R., Berry C.J., Weiss R., Nishimura D.Y., Sheffield V.C.
      J. Clin. Invest. 118:1458-1467(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISRUPTION PHENOTYPE.

    Entry informationi

    Entry nameiBBS2_MOUSE
    AccessioniPrimary (citable) accession number: Q9CWF6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2002
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 99 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3