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Q8K2G4

- BBS7_MOUSE

UniProt

Q8K2G4 - BBS7_MOUSE

Protein

Bardet-Biedl syndrome 7 protein homolog

Gene

Bbs7

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      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 BBSome complex ciliary localization but not for the proper complex assembly By similarity.By similarity

    GO - Biological processi

    1. brain development Source: MGI
    2. eye development Source: MGI
    3. fat cell differentiation Source: BHF-UCL
    4. heart development Source: MGI
    5. limb development Source: MGI
    6. nonmotile primary cilium assembly Source: InterPro
    7. palate development Source: MGI
    8. positive regulation of proteasomal ubiquitin-dependent protein catabolic process Source: Ensembl
    9. protein localization Source: MGI
    10. protein transport Source: UniProtKB-KW
    11. regulation of transcription from RNA polymerase II promoter Source: Ensembl
    12. smoothened signaling pathway Source: MGI

    Keywords - Biological processi

    Cilium biogenesis/degradation, Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bardet-Biedl syndrome 7 protein homolog
    Alternative name(s):
    BBS2-like protein 1
    Gene namesi
    Name:Bbs7
    Synonyms:Bbs2l1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 3

    Organism-specific databases

    MGIiMGI:1918742. Bbs7.

    Subcellular locationi

    GO - Cellular componenti

    1. axoneme Source: MGI
    2. BBSome Source: UniProtKB
    3. centrosome Source: MGI
    4. ciliary basal body Source: MGI
    5. ciliary membrane Source: UniProtKB-SubCell
    6. nucleus Source: MGI

    Keywords - Cellular componenti

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 715715Bardet-Biedl syndrome 7 protein homologPRO_0000064847Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ8K2G4.
    PaxDbiQ8K2G4.
    PRIDEiQ8K2G4.

    PTM databases

    PhosphoSiteiQ8K2G4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8K2G4.
    BgeeiQ8K2G4.
    CleanExiMM_BBS7.
    GenevestigatoriQ8K2G4.

    Interactioni

    Subunit structurei

    Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with BBS2 (via C-terminus). Interacts with CCDC28B. Interacts with SMO; the interaction is indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO.1 Publication

    Protein-protein interaction databases

    DIPiDIP-60353N.
    IntActiQ8K2G4. 4 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8K2G4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG72192.
    GeneTreeiENSGT00390000012346.
    HOGENOMiHOG000022374.
    HOVERGENiHBG045408.
    InParanoidiQ8K2G4.
    KOiK16749.
    OMAiKPIHKWE.
    OrthoDBiEOG7CNZG6.
    PhylomeDBiQ8K2G4.
    TreeFamiTF315013.

    Family and domain databases

    Gene3Di2.130.10.10. 2 hits.
    InterProiIPR016575. Bardet-Biedl_syndrome_7_prot.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PIRSFiPIRSF011091. BBS7. 1 hit.
    SUPFAMiSSF50978. SSF50978. 2 hits.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8K2G4-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDLTLSRADY LQVGVTSQKT MKLLPTSRQR ATQKVVVGDQ DGVVICFGVK    50
    KGEAVPVFKT LPGQKISRLE LGGAVNTPQE KIFIAAGSEI RGFTKRGKQF 100
    LSFETNLTES IKAMYISGSD LFLSASYIYN HYCDCKDQNY YLSGDKINDV 150
    ICLPVEKLSR VTPVLACQDR VLRVLQGSDV MYEIEVPGPP TVLALHNGDG 200
    GDSGEGLLFG TSDGRLGLIQ ITTSKPIHKW EIRNDKKRGG ILCVDSFDIM 250
    GDGVKDLLVG RDDGMVEVYS FENANEPVLR FDQMLSESVT SIQGGCVGKD 300
    GYDEIVLATY SGWVTGLTTE PTHKESGPGE ELKLNQEMQN KISSLRSEIE 350
    HLQFKVLQER ENYQQSSQSS QAKSTVPSFS INDKFTLNKE DASYSLVLEV 400
    RTAIDNVLIQ SDVPIDLLDV DKNSAVVSFS SCDTESNDNF LLATYRCQAN 450
    TTRLELKIRS IEGQYGTLQA YVTPRIQPKT CQVRQYHIKP LSLHQRTHFI 500
    DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC ATFYFQNTFL 550
    DTQLECVYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 600
    SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQVHEGNTD FLTPEYRCIL 650
    EEADHLQEEY KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPMLLEIL 700
    DSYDQNTLIS FFDAA 715
    Length:715
    Mass (Da):80,320
    Last modified:October 1, 2002 - v1
    Checksum:iF7D8C284B04DA15B
    GO
    Isoform 2 (identifier: Q8K2G4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         56-57: PV → VM

    Note: May be due to a competing donor splice site. No experimental confirmation available.

    Show »
    Length:715
    Mass (Da):80,354
    Checksum:iF751315E44CAA589
    GO
    Isoform 3 (identifier: Q8K2G4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         116-161: ISGSDLFLSA...CLPVEKLSRV → VLFSFMFTYV...FRTWNQYTVD
         162-715: Missing.

    Note: Due to intron retention. No experimental confirmation available.

    Show »
    Length:161
    Mass (Da):18,201
    Checksum:iBD4BB27542FF0053
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei56 – 572PV → VM in isoform 2. 1 PublicationVSP_008851
    Alternative sequencei116 – 16146ISGSD…KLSRV → VLFSFMFTYVSIIHLIKLVY TSRFFWKRNLATGISLFRTW NQYTVD in isoform 3. 1 PublicationVSP_008852Add
    BLAST
    Alternative sequencei162 – 715554Missing in isoform 3. 1 PublicationVSP_008853Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF521645 mRNA. Translation: AAO16027.1.
    AK018389 mRNA. Translation: BAB31190.1.
    AK050291 mRNA. Translation: BAC34169.1.
    BC031505 mRNA. Translation: AAH31505.1.
    CCDSiCCDS17314.2. [Q8K2G4-1]
    RefSeqiNP_082086.2. NM_027810.3. [Q8K2G4-1]
    UniGeneiMm.286187.

    Genome annotation databases

    EnsembliENSMUST00000040148; ENSMUSP00000047273; ENSMUSG00000037325. [Q8K2G4-2]
    ENSMUST00000108156; ENSMUSP00000103791; ENSMUSG00000037325. [Q8K2G4-1]
    GeneIDi71492.
    KEGGimmu:71492.
    UCSCiuc008ozp.2. mouse. [Q8K2G4-2]
    uc008ozq.2. mouse. [Q8K2G4-1]
    uc008ozr.1. mouse. [Q8K2G4-3]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF521645 mRNA. Translation: AAO16027.1 .
    AK018389 mRNA. Translation: BAB31190.1 .
    AK050291 mRNA. Translation: BAC34169.1 .
    BC031505 mRNA. Translation: AAH31505.1 .
    CCDSi CCDS17314.2. [Q8K2G4-1 ]
    RefSeqi NP_082086.2. NM_027810.3. [Q8K2G4-1 ]
    UniGenei Mm.286187.

    3D structure databases

    ProteinModelPortali Q8K2G4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-60353N.
    IntActi Q8K2G4. 4 interactions.

    PTM databases

    PhosphoSitei Q8K2G4.

    Proteomic databases

    MaxQBi Q8K2G4.
    PaxDbi Q8K2G4.
    PRIDEi Q8K2G4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000040148 ; ENSMUSP00000047273 ; ENSMUSG00000037325 . [Q8K2G4-2 ]
    ENSMUST00000108156 ; ENSMUSP00000103791 ; ENSMUSG00000037325 . [Q8K2G4-1 ]
    GeneIDi 71492.
    KEGGi mmu:71492.
    UCSCi uc008ozp.2. mouse. [Q8K2G4-2 ]
    uc008ozq.2. mouse. [Q8K2G4-1 ]
    uc008ozr.1. mouse. [Q8K2G4-3 ]

    Organism-specific databases

    CTDi 55212.
    MGIi MGI:1918742. Bbs7.

    Phylogenomic databases

    eggNOGi NOG72192.
    GeneTreei ENSGT00390000012346.
    HOGENOMi HOG000022374.
    HOVERGENi HBG045408.
    InParanoidi Q8K2G4.
    KOi K16749.
    OMAi KPIHKWE.
    OrthoDBi EOG7CNZG6.
    PhylomeDBi Q8K2G4.
    TreeFami TF315013.

    Miscellaneous databases

    ChiTaRSi BBS7. mouse.
    NextBioi 333889.
    PROi Q8K2G4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8K2G4.
    Bgeei Q8K2G4.
    CleanExi MM_BBS7.
    Genevestigatori Q8K2G4.

    Family and domain databases

    Gene3Di 2.130.10.10. 2 hits.
    InterProi IPR016575. Bardet-Biedl_syndrome_7_prot.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    PIRSFi PIRSF011091. BBS7. 1 hit.
    SUPFAMi SSF50978. SSF50978. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2."
      Badano J.L., Ansley S.J., Leitch C.C., Lewis R.A., Lupski J.R., Katsanis N.
      Am. J. Hum. Genet. 72:650-658(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-584 (ISOFORM 1).
      Strain: C57BL/6J.
      Tissue: Embryonic lung and Liver.
    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] (ISOFORM 1).
      Tissue: Mammary tumor.
    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: INTERACTION WITH SMO, IDENTIFICATION IN THE BBSOME COMPLEX.

    Entry informationi

    Entry nameiBBS7_MOUSE
    AccessioniPrimary (citable) accession number: Q8K2G4
    Secondary accession number(s): Q8C7G3, Q8CH00, Q9CXC2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 7, 2003
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 87 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