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Q8C1Z7

- BBS4_MOUSE

UniProt

Q8C1Z7 - BBS4_MOUSE

Protein

Bardet-Biedl syndrome 4 protein homolog

Gene

Bbs4

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      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. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome By similarity.By similarity

    GO - Molecular functioni

    1. microtubule motor activity Source: UniProtKB
    2. protein binding Source: MGI

    GO - Biological processi

    1. adult behavior Source: MGI
    2. brain morphogenesis Source: MGI
    3. centrosome organization Source: UniProtKB
    4. cerebral cortex development Source: MGI
    5. cilium assembly Source: BHF-UCL
    6. cilium morphogenesis Source: BHF-UCL
    7. dendrite development Source: MGI
    8. fat cell differentiation Source: BHF-UCL
    9. hippocampus development Source: MGI
    10. leptin-mediated signaling pathway Source: MGI
    11. maintenance of protein location in nucleus Source: Ensembl
    12. metabolic process Source: GOC
    13. microtubule anchoring at centrosome Source: Ensembl
    14. microtubule cytoskeleton organization Source: MGI
    15. mitotic cytokinesis Source: Ensembl
    16. negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
    17. negative regulation of gene expression Source: MGI
    18. negative regulation of systemic arterial blood pressure Source: MGI
    19. neural tube closure Source: MGI
    20. nonmotile primary cilium assembly Source: MGI
    21. photoreceptor cell maintenance Source: MGI
    22. positive regulation of cilium assembly Source: MGI
    23. positive regulation of multicellular organism growth Source: MGI
    24. protein localization Source: MGI
    25. protein localization to centrosome Source: Ensembl
    26. protein localization to organelle Source: BHF-UCL
    27. protein transport Source: UniProtKB-KW
    28. regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
    29. regulation of cytokinesis Source: Ensembl
    30. regulation of lipid metabolic process Source: MGI
    31. response to leptin Source: MGI
    32. retina homeostasis Source: MGI
    33. retinal rod cell development Source: MGI
    34. sensory perception of smell Source: MGI
    35. spermatid development Source: MGI
    36. striatum development Source: MGI

    Keywords - Biological processi

    Cilium biogenesis/degradation, Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bardet-Biedl syndrome 4 protein homolog
    Gene namesi
    Name:Bbs4
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 9

    Organism-specific databases

    MGIiMGI:2143311. Bbs4.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity. Cell projectioncilium membrane By similarity. Cytoplasm By similarity. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite By similarity. Cell projectionciliumflagellum 2 Publications
    Note: Localizes to the pericentriolar material. Centrosomal localization requires dynein.

    GO - Cellular componenti

    1. BBSome Source: MGI
    2. centriolar satellite Source: UniProtKB
    3. centriole Source: Ensembl
    4. centrosome Source: MGI
    5. ciliary basal body Source: MGI
    6. ciliary membrane Source: UniProtKB-SubCell
    7. cilium Source: UniProtKB
    8. motile cilium Source: BHF-UCL
    9. nonmotile primary cilium Source: Ensembl
    10. pericentriolar material Source: UniProtKB

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Disruption phenotypei

    Males are sterile due to a loss of sperm flagella. In mice obesity is associated with hyperleptinemia and resistance to the anorectic and weight-reducing effects of leptin. Although mice are resistant to the metabolic actions of leptin, animals remain responsive to the effects of leptin on renal sympathetic nerve activity and arterial pressure and developed hypertension. BBS mice have decreased hypothalamic expression of proopiomelanocortin (POMC). BBS genes play an important role in maintaining leptin sensitivity in POMC neurons.2 Publications

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 520520Bardet-Biedl syndrome 4 protein homologPRO_0000106264Add
    BLAST

    Proteomic databases

    MaxQBiQ8C1Z7.
    PRIDEiQ8C1Z7.

    PTM databases

    PhosphoSiteiQ8C1Z7.

    Expressioni

    Tissue specificityi

    Expressed in the hippocampus and dentate gyrus, the columnar epithelial cells of bronchioles, the olfactory epithelium and the inner segment and outer nuclear layer of the retina. Expressed in testis.2 Publications

    Developmental stagei

    Expressed in the pericardium of the developing embryo and in the epidermal layer surrounding the digits.1 Publication

    Gene expression databases

    ArrayExpressiQ8C1Z7.
    BgeeiQ8C1Z7.
    CleanExiMM_BBS4.
    GenevestigatoriQ8C1Z7.

    Interactioni

    Subunit structurei

    Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1 and DCTN1. Interacts with DC28B. Interacts with ALDOB and C2CD3.2 Publications

    Protein-protein interaction databases

    BioGridi221946. 2 interactions.
    DIPiDIP-60352N.
    IntActiQ8C1Z7. 3 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8C1Z7.
    SMRiQ8C1Z7. Positions 76-397.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati67 – 10034TPR 1Add
    BLAST
    Repeati102 – 13433TPR 2Add
    BLAST
    Repeati135 – 16733TPR 3Add
    BLAST
    Repeati168 – 20134TPR 4Add
    BLAST
    Repeati203 – 23533TPR 5Add
    BLAST
    Repeati237 – 26933TPR 6Add
    BLAST
    Repeati270 – 30334TPR 7Add
    BLAST
    Repeati304 – 33734TPR 8Add
    BLAST
    Repeati339 – 37133TPR 9Add
    BLAST
    Repeati373 – 40836TPR 10Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 6666Required for localization to centrosomesBy similarityAdd
    BLAST
    Regioni101 – 337237Interaction with PCM1By similarityAdd
    BLAST
    Regioni338 – 520183Required for localization to centrosomesBy similarityAdd
    BLAST

    Sequence similaritiesi

    Belongs to the BBS4 family.Curated
    Contains 10 TPR repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, TPR repeat

    Phylogenomic databases

    eggNOGiCOG0457.
    GeneTreeiENSGT00530000063455.
    HOGENOMiHOG000261391.
    HOVERGENiHBG024456.
    InParanoidiQ8C1Z7.
    KOiK16531.
    OMAiDLTYMML.
    OrthoDBiEOG7PS1HB.
    PhylomeDBiQ8C1Z7.
    TreeFamiTF324966.

    Family and domain databases

    Gene3Di1.25.40.10. 3 hits.
    InterProiIPR028786. BBS4.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    [Graphical view]
    PANTHERiPTHR23083:SF389. PTHR23083:SF389. 1 hit.
    PfamiPF07719. TPR_2. 1 hit.
    [Graphical view]
    SMARTiSM00028. TPR. 8 hits.
    [Graphical view]
    PROSITEiPS50005. TPR. 8 hits.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8C1Z7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAEVKLGMKT QVPASVESQK PRSKKAPDFP IVEKQNWLIH LHYIRKDYEA    50
    CKAVIKEQLQ ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQC 100
    ADNLKQVARS LFLLGKHKAA TEVYNEAAKL NQKDWEICHN LGVCYTYLKQ 150
    FNKAQDQLHS ALQLNKHDLT YIMLGKIHLL QGDLDKAIEI YKKAVEFSPE 200
    NTELLTTLGL LYLQLGVYQK AFEHLGNALT YDPANYKAIL AAGSMMQTHG 250
    DFDVALTKYR VVACAIPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA 300
    PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN 350
    LEDIENARRA YVEAVRLDKC NPLVNLNYAV LLYNQGEKKS ALAQYQEMEK 400
    KVNFLKDNSP LEFDSEMVEM AQKLGAALQV GEALVWTKPV KDPKTKHRTN 450
    SGSKSATLQQ PLGSIQALGQ AMSSAAAYRK ILSGAVGAQL PKPPSLPLEP 500
    EPEPTVEASP TEASEQKKEK 520
    Length:520
    Mass (Da):58,255
    Last modified:March 1, 2003 - v1
    Checksum:i70640E41509F2479
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti515 – 5151E → V in AAH92531. (PubMed:15489334)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK039560 mRNA. Translation: BAC30384.1.
    AK089970 mRNA. Translation: BAC41021.1.
    AK134734 mRNA. Translation: BAE22262.1.
    BC055797 mRNA. Translation: AAH55797.1.
    BC089507 mRNA. Translation: AAH89507.1. Different termination.
    BC092531 mRNA. Translation: AAH92531.1. Different termination.
    CCDSiCCDS40658.1.
    RefSeqiNP_780534.1. NM_175325.3.
    UniGeneiMm.200714.

    Genome annotation databases

    EnsembliENSMUST00000026265; ENSMUSP00000026265; ENSMUSG00000025235.
    GeneIDi102774.
    KEGGimmu:102774.
    UCSCiuc009pxr.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK039560 mRNA. Translation: BAC30384.1 .
    AK089970 mRNA. Translation: BAC41021.1 .
    AK134734 mRNA. Translation: BAE22262.1 .
    BC055797 mRNA. Translation: AAH55797.1 .
    BC089507 mRNA. Translation: AAH89507.1 . Different termination.
    BC092531 mRNA. Translation: AAH92531.1 . Different termination.
    CCDSi CCDS40658.1.
    RefSeqi NP_780534.1. NM_175325.3.
    UniGenei Mm.200714.

    3D structure databases

    ProteinModelPortali Q8C1Z7.
    SMRi Q8C1Z7. Positions 76-397.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 221946. 2 interactions.
    DIPi DIP-60352N.
    IntActi Q8C1Z7. 3 interactions.

    PTM databases

    PhosphoSitei Q8C1Z7.

    Proteomic databases

    MaxQBi Q8C1Z7.
    PRIDEi Q8C1Z7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000026265 ; ENSMUSP00000026265 ; ENSMUSG00000025235 .
    GeneIDi 102774.
    KEGGi mmu:102774.
    UCSCi uc009pxr.2. mouse.

    Organism-specific databases

    CTDi 585.
    MGIi MGI:2143311. Bbs4.

    Phylogenomic databases

    eggNOGi COG0457.
    GeneTreei ENSGT00530000063455.
    HOGENOMi HOG000261391.
    HOVERGENi HBG024456.
    InParanoidi Q8C1Z7.
    KOi K16531.
    OMAi DLTYMML.
    OrthoDBi EOG7PS1HB.
    PhylomeDBi Q8C1Z7.
    TreeFami TF324966.

    Miscellaneous databases

    NextBioi 355647.
    PROi Q8C1Z7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8C1Z7.
    Bgeei Q8C1Z7.
    CleanExi MM_BBS4.
    Genevestigatori Q8C1Z7.

    Family and domain databases

    Gene3Di 1.25.40.10. 3 hits.
    InterProi IPR028786. BBS4.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    [Graphical view ]
    PANTHERi PTHR23083:SF389. PTHR23083:SF389. 1 hit.
    Pfami PF07719. TPR_2. 1 hit.
    [Graphical view ]
    SMARTi SM00028. TPR. 8 hits.
    [Graphical view ]
    PROSITEi PS50005. TPR. 8 hits.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance."
      Katsanis N., Eichers E.R., Ansley S.J., Lewis R.A., Kayserili H., Hoskins B.E., Scambler P.J., Beales P.L., Lupski J.R.
      Am. J. Hum. Genet. 71:22-29(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    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: Medulla oblongata.
    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: C57BL/6.
      Tissue: Brain and Pituitary.
    4. "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression."
      Kim J.C., Badano J.L., Sibold S., Esmail M.A., Hill J., Hoskins B.E., Leitch C.C., Venner K., Ansley S.J., Ross A.J., Leroux M.R., Katsanis N., Beales P.L.
      Nat. Genet. 36:462-470(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    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.
    6. "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, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY.
    7. "C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals."
      Ye X., Zeng H., Ning G., Reiter J.F., Liu A.
      Proc. Natl. Acad. Sci. U.S.A. 111:2164-2169(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH C2CD3.

    Entry informationi

    Entry nameiBBS4_MOUSE
    AccessioniPrimary (citable) accession number: Q8C1Z7
    Secondary accession number(s): Q3UYF0
    , Q562E1, Q5EBJ7, Q8CA57
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 3, 2003
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 105 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
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3