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Q811G0

- PTHB1_MOUSE

UniProt

Q811G0 - PTHB1_MOUSE

Protein

Protein PTHB1

Gene

Bbs9

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 82 (01 Oct 2014)
      Sequence version 2 (16 May 2006)
      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. Required for proper BBSome complex assembly and its ciliary localization By similarity.By similarity

    GO - Molecular functioni

    1. protein binding Source: MGI

    GO - Biological processi

    1. cilium assembly Source: FlyBase
    2. fat cell differentiation Source: BHF-UCL
    3. protein transport Source: UniProtKB-KW

    Keywords - Biological processi

    Cilium biogenesis/degradation, Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein PTHB1
    Alternative name(s):
    Bardet-Biedl syndrome 9 protein homolog
    Parathyroid hormone-responsive B1 gene protein homolog
    Gene namesi
    Name:Bbs9
    Synonyms:Pthb1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 9

    Organism-specific databases

    MGIiMGI:2442833. Bbs9.

    Subcellular locationi

    GO - Cellular componenti

    1. BBSome Source: UniProtKB
    2. ciliary basal body Source: MGI
    3. ciliary membrane Source: UniProtKB-SubCell
    4. cilium Source: UniProtKB
    5. cytoplasm Source: UniProtKB-SubCell
    6. nucleus Source: Ensembl

    Keywords - Cellular componenti

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 885885Protein PTHB1PRO_0000235270Add
    BLAST

    Proteomic databases

    MaxQBiQ811G0.
    PaxDbiQ811G0.
    PRIDEiQ811G0.

    PTM databases

    PhosphoSiteiQ811G0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ811G0.
    BgeeiQ811G0.
    CleanExiMM_BBS9.
    GenevestigatoriQ811G0.

    Interactioni

    Subunit structurei

    Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with LZTL1; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking.1 Publication

    Protein-protein interaction databases

    IntActiQ811G0. 3 interactions.
    STRINGi10090.ENSMUSP00000110951.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni684 – 76481Interaction with LZTL1By similarityAdd
    BLAST

    Phylogenomic databases

    eggNOGiNOG329692.
    GeneTreeiENSGT00390000000803.
    HOGENOMiHOG000067865.
    HOVERGENiHBG082225.
    InParanoidiQ811G0.
    OMAiVNVMGFR.
    OrthoDBiEOG7W153P.
    PhylomeDBiQ811G0.
    TreeFamiTF314513.

    Family and domain databases

    InterProiIPR028074. PHTB1_C_dom.
    IPR028073. PHTB1_N_dom.
    IPR026511. PTHB1.
    [Graphical view]
    PANTHERiPTHR20991:SF0. PTHR20991:SF0. 1 hit.
    PfamiPF14728. PHTB1_C. 1 hit.
    PF14727. PHTB1_N. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q811G0-1) [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

    MSLFKARDWW STVLGEKEEF DQGCLCLADV DNSGNGHDKI IVGSFMGYLR    50
    IFSPHSVKAG GGPQAEDLLL EVHLRDPVLQ VEVGKFVSGT EMLHLAVLHS 100
    RKLCVYSVSG TLGNVEHGNQ YQIKLMYEHH LQRTACNMTY GPFGGVKGRD 150
    LICIQSLDGM LMVFEQESYA FGRFLPGFLL PGPLAYSPRT DSFITVSSCR 200
    QVESYKYQVL AFATDADKKQ EMEQQKLGSG KRLVVDWTLN IGEQALDICI 250
    FPLNQSASSV FVLGERNFFC LKDNGQIRFM KKLGYNPSCF LPYCSVSEGT 300
    INTLIGNHNH MLHIYQDVTL KWATQLPHVP VAVRVGCFHD LKGVIVTLSD 350
    DGHLQCSYLG TDPSLFQAPK VESRELNYDE LDVELKELQK IIKDVKLQGV 400
    WPLTEQEDDL KVSASVSSTL DSVSQATNVE PGADSVPSIT VKITLQNRVV 450
    LQKVKLSIYV QPPLQLTCDQ FTFDFTVPDM TSSVAFSVYL KRNYTPSELE 500
    GNAVVSYSRP TDRNPDGIPR VVQCKFRLPL KLICLPGQPS KTASHKLTID 550
    TNKSPVSLLG LFPDFANPSD DDQVNVMGFR LLGGARVTLL ASRTSQRYRI 600
    QSEQFEDLWL ITNELILRLQ EHFEKQGTKD FSCSFSGCVP LQEYFELIDH 650
    HFELRINGKK LEELLSERAV QFRAIQRRLL TRFRDKTPAP LQHLDTLLDG 700
    TYKQVIALAD AIEENQDRLL QSFSGLKSAT HLLILLIRLW QRLSADQTAI 750
    LEAAFLPLQE DTQELGWEET VDAAIAYLLK TCLSKSSKEQ ALNLSSQLNI 800
    PKDTSRLKKH ITLLCDRLAK GGRLCVSTDA AAPQAMVVPG GCTPIPESDL 850
    EERSLDDSTE LFTNHKHLMT EPPMPEVSAR QGVLE 885
    Length:885
    Mass (Da):99,057
    Last modified:May 16, 2006 - v2
    Checksum:i46C4580518630E36
    GO
    Isoform 2 (identifier: Q811G0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         512-516: Missing.

    Show »
    Length:880
    Mass (Da):98,460
    Checksum:i8D4F740902EA2610
    GO
    Isoform 3 (identifier: Q811G0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-576: Missing.
         706-800: IALADAIEEN...ALNLSSQLNI → SAMSGQMCVS...LKIILAVFTL
         801-885: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:224
    Mass (Da):25,847
    Checksum:iD171E96513507E63
    GO
    Isoform 4 (identifier: Q811G0-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-576: Missing.

    Show »
    Length:309
    Mass (Da):34,996
    Checksum:i9931917102C2D038
    GO

    Sequence cautioni

    The sequence AAH30419.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti325 – 3251Q → R in BAE26036. (PubMed:16141072)Curated
    Sequence conflicti885 – 8851E → V in BAE26036. (PubMed:16141072)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 576576Missing in isoform 3 and isoform 4. 2 PublicationsVSP_018429Add
    BLAST
    Alternative sequencei512 – 5165Missing in isoform 2. 2 PublicationsVSP_018430
    Alternative sequencei706 – 80095IALAD…SQLNI → SAMSGQMCVSTPVSSFPRVR RQGTDICWTVGSGCVCDAFG VAYKYSFSSLFSQETTTCSQ YLYDYNEDLGLLVSSWVSTW DHYFVLKIILAVFTL in isoform 3. 1 PublicationVSP_018431Add
    BLAST
    Alternative sequencei801 – 88585Missing in isoform 3. 1 PublicationVSP_018432Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK053503 mRNA. Translation: BAC35408.1.
    AK144730 mRNA. Translation: BAE26036.1.
    BC030419 mRNA. Translation: AAH30419.1. Different initiation.
    BC046426 mRNA. Translation: AAH46426.1.
    BC054441 mRNA. Translation: AAH54441.1.
    U85993 mRNA. Translation: AAB61920.1.
    CCDSiCCDS22928.1. [Q811G0-2]
    RefSeqiNP_848502.1. NM_178415.1. [Q811G0-2]
    NP_851833.2. NM_181316.4. [Q811G0-2]
    XP_006510478.1. XM_006510415.1. [Q811G0-1]
    XP_006510479.1. XM_006510416.1. [Q811G0-1]
    XP_006510480.1. XM_006510417.1. [Q811G0-1]
    XP_006510481.1. XM_006510418.1. [Q811G0-1]
    XP_006510482.1. XM_006510419.1. [Q811G0-2]
    UniGeneiMm.176725.

    Genome annotation databases

    EnsembliENSMUST00000039798; ENSMUSP00000043042; ENSMUSG00000035919. [Q811G0-2]
    ENSMUST00000147405; ENSMUSP00000120927; ENSMUSG00000035919. [Q811G0-1]
    ENSMUST00000147712; ENSMUSP00000122058; ENSMUSG00000035919. [Q811G0-2]
    ENSMUST00000150395; ENSMUSP00000116629; ENSMUSG00000035919. [Q811G0-2]
    GeneIDi319845.
    KEGGimmu:319845.
    UCSCiuc009oor.1. mouse. [Q811G0-2]
    uc009oou.1. mouse. [Q811G0-1]
    uc009oov.1. mouse. [Q811G0-3]
    uc012gpo.1. mouse. [Q811G0-4]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK053503 mRNA. Translation: BAC35408.1 .
    AK144730 mRNA. Translation: BAE26036.1 .
    BC030419 mRNA. Translation: AAH30419.1 . Different initiation.
    BC046426 mRNA. Translation: AAH46426.1 .
    BC054441 mRNA. Translation: AAH54441.1 .
    U85993 mRNA. Translation: AAB61920.1 .
    CCDSi CCDS22928.1. [Q811G0-2 ]
    RefSeqi NP_848502.1. NM_178415.1. [Q811G0-2 ]
    NP_851833.2. NM_181316.4. [Q811G0-2 ]
    XP_006510478.1. XM_006510415.1. [Q811G0-1 ]
    XP_006510479.1. XM_006510416.1. [Q811G0-1 ]
    XP_006510480.1. XM_006510417.1. [Q811G0-1 ]
    XP_006510481.1. XM_006510418.1. [Q811G0-1 ]
    XP_006510482.1. XM_006510419.1. [Q811G0-2 ]
    UniGenei Mm.176725.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q811G0. 3 interactions.
    STRINGi 10090.ENSMUSP00000110951.

    PTM databases

    PhosphoSitei Q811G0.

    Proteomic databases

    MaxQBi Q811G0.
    PaxDbi Q811G0.
    PRIDEi Q811G0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000039798 ; ENSMUSP00000043042 ; ENSMUSG00000035919 . [Q811G0-2 ]
    ENSMUST00000147405 ; ENSMUSP00000120927 ; ENSMUSG00000035919 . [Q811G0-1 ]
    ENSMUST00000147712 ; ENSMUSP00000122058 ; ENSMUSG00000035919 . [Q811G0-2 ]
    ENSMUST00000150395 ; ENSMUSP00000116629 ; ENSMUSG00000035919 . [Q811G0-2 ]
    GeneIDi 319845.
    KEGGi mmu:319845.
    UCSCi uc009oor.1. mouse. [Q811G0-2 ]
    uc009oou.1. mouse. [Q811G0-1 ]
    uc009oov.1. mouse. [Q811G0-3 ]
    uc012gpo.1. mouse. [Q811G0-4 ]

    Organism-specific databases

    CTDi 27241.
    MGIi MGI:2442833. Bbs9.

    Phylogenomic databases

    eggNOGi NOG329692.
    GeneTreei ENSGT00390000000803.
    HOGENOMi HOG000067865.
    HOVERGENi HBG082225.
    InParanoidi Q811G0.
    OMAi VNVMGFR.
    OrthoDBi EOG7W153P.
    PhylomeDBi Q811G0.
    TreeFami TF314513.

    Miscellaneous databases

    NextBioi 395515.
    PROi Q811G0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q811G0.
    Bgeei Q811G0.
    CleanExi MM_BBS9.
    Genevestigatori Q811G0.

    Family and domain databases

    InterProi IPR028074. PHTB1_C_dom.
    IPR028073. PHTB1_N_dom.
    IPR026511. PTHB1.
    [Graphical view ]
    PANTHERi PTHR20991:SF0. PTHR20991:SF0. 1 hit.
    Pfami PF14728. PHTB1_C. 1 hit.
    PF14727. PHTB1_N. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 2 AND 3).
      Strain: C57BL/6J.
      Tissue: Eye and Lung.
    2. "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] (ISOFORMS 2 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 105-885 (ISOFORM 1).
      Strain: FVB/N.
      Tissue: Eye and Mammary tumor.
    3. "Positional candidates for the RP9 retinitis pigmentosa gene."
      Keen T.J.
      Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 667-885.
      Tissue: Fetus.
    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 LZTL1, IDENTIFICATION IN THE BBSOME COMPLEX.

    Entry informationi

    Entry nameiPTHB1_MOUSE
    AccessioniPrimary (citable) accession number: Q811G0
    Secondary accession number(s): P97498
    , Q3UMR2, Q7TQH9, Q8BKD7, Q8K0T5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: May 16, 2006
    Last modified: October 1, 2014
    This is version 82 of the entry and version 2 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