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Q8VD72

- TTC8_MOUSE

UniProt

Q8VD72 - TTC8_MOUSE

Protein

Tetratricopeptide repeat protein 8

Gene

Ttc8

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 1 (01 Mar 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 proper BBSome complex assembly and its ciliary localization By similarity.By similarity

    GO - Biological processi

    1. axon guidance Source: MGI
    2. camera-type eye photoreceptor cell differentiation Source: MGI
    3. cilium assembly Source: FlyBase
    4. establishment of anatomical structure orientation Source: Ensembl
    5. fat cell differentiation Source: BHF-UCL
    6. multicellular organism growth Source: MGI
    7. nonmotile primary cilium assembly Source: InterPro
    8. olfactory bulb development Source: MGI
    9. protein transport Source: UniProtKB-KW
    10. regulation of protein localization Source: MGI
    11. renal tubule development Source: MGI
    12. sensory perception of smell Source: MGI

    Keywords - Biological processi

    Cilium biogenesis/degradation, Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Tetratricopeptide repeat protein 8
    Short name:
    TPR repeat protein 8
    Alternative name(s):
    Bardet-Biedl syndrome 8 protein homolog
    Gene namesi
    Name:Ttc8
    Synonyms:Bbs8
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 12

    Organism-specific databases

    MGIiMGI:1923510. Ttc8.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 515515Tetratricopeptide repeat protein 8PRO_0000106389Add
    BLAST

    Proteomic databases

    MaxQBiQ8VD72.
    PaxDbiQ8VD72.
    PRIDEiQ8VD72.

    PTM databases

    PhosphoSiteiQ8VD72.

    Expressioni

    Tissue specificityi

    Isoform 1 is retina-specific whereas isoform 2 is ubiquitously expressed.1 Publication

    Developmental stagei

    Expressed at 12 dpc in ciliated structures, including maturing (stages X and XI) spermatids, the connecting cilium of the retina and bronchial epithelial cells. At 14 and 16 dpc, detected in the telencephalon, with prominent expression at the developing ependymal cell layer and the olfactory epithelium.1 Publication

    Gene expression databases

    ArrayExpressiQ8VD72.
    BgeeiQ8VD72.
    CleanExiMM_TTC8.
    GenevestigatoriQ8VD72.

    Interactioni

    Subunit structurei

    Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1. Interacts with CCDC28B.1 Publication

    Protein-protein interaction databases

    DIPiDIP-60354N.
    IntActiQ8VD72. 3 interactions.
    STRINGi10090.ENSMUSP00000078148.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8VD72.
    SMRiQ8VD72. Positions 231-497.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati4 – 3734TPR 1Add
    BLAST
    Repeati225 – 25834TPR 2Add
    BLAST
    Repeati259 – 29133TPR 3Add
    BLAST
    Repeati292 – 32534TPR 4Add
    BLAST
    Repeati326 – 35934TPR 5Add
    BLAST
    Repeati360 – 39334TPR 6Add
    BLAST
    Repeati397 – 43034TPR 7Add
    BLAST
    Repeati432 – 46433TPR 8Add
    BLAST

    Sequence similaritiesi

    Contains 8 TPR repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, TPR repeat

    Phylogenomic databases

    eggNOGiNOG276935.
    GeneTreeiENSGT00530000063455.
    HOGENOMiHOG000255572.
    HOVERGENiHBG044570.
    InParanoidiQ8VD72.
    KOiK16781.
    OMAiLAYQCFK.
    OrthoDBiEOG7VQJDN.
    PhylomeDBiQ8VD72.
    TreeFamiTF314892.

    Family and domain databases

    Gene3Di1.25.40.10. 5 hits.
    InterProiIPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    IPR028796. TTC8/BBS8.
    [Graphical view]
    PANTHERiPTHR23083:SF39. PTHR23083:SF39. 1 hit.
    PfamiPF07719. TPR_2. 1 hit.
    [Graphical view]
    SMARTiSM00028. TPR. 5 hits.
    [Graphical view]
    PROSITEiPS50005. TPR. 6 hits.
    PS50293. TPR_REGION. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8VD72-1) [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

    MGSEMEPLLR AWSYFRRRKF QLCADLCTQM LEKSPYDQEP APDLPVSQAA    50
    WILKARALTE MVYIDEIDVD QEGIAEMILD ENAIAQVPRP GTSLKLPGTN 100
    QTGGPTQAVR PITQAGRPIT GFLRPSTQSG RPGTMEQAIR TPRTAYTARP 150
    ITSSSGRFVR LGTASMLTSP DGPFINLSRL NLTKYSQKPK LAKALFEYIL 200
    HHENDVKMAL DLASLSTEYS QYKDWWWKVQ IGKCYYRLGM YREAEKQFKS 250
    ALKQQEMVDT FLYLAKVYII LDQPVTALNL FKQGLDKFPG EVTLLCGIAR 300
    IYEEMNNSSS AAEYYKEVLK QDNTHVEAIA CIGSNHFYSD QPEVALRFYR 350
    RLLQMGVYNC QLFNNLGLCC FYAQQYDMTL TSFERALSLA ENEEEAADVW 400
    YNLGHIAVGI GDTNLAHQCF RLALVHNNHH AEAYNNLAVL EMRKGHVEQA 450
    RALLQTASSL APHMYEPHFN FATVSDKIGD LQRSYVAAQK SEVAFPEHVD 500
    TQHLIKQLKQ HFAML 515
    Length:515
    Mass (Da):58,440
    Last modified:March 1, 2002 - v1
    Checksum:i9A8ACDF59BB641C1
    GO
    Isoform 2 (identifier: Q8VD72-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         38-47: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:505
    Mass (Da):57,406
    Checksum:i9B13D8F8D9EB4F22
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei38 – 4710Missing in isoform 2. 1 PublicationVSP_007825

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK002597 mRNA. Translation: BAB22218.1.
    AK081697 mRNA. Translation: BAC38298.1.
    BC017523 mRNA. Translation: AAH17523.1.
    CCDSiCCDS26101.1. [Q8VD72-2]
    CCDS26102.1. [Q8VD72-1]
    RefSeqiNP_083829.1. NM_029553.3. [Q8VD72-2]
    NP_938053.1. NM_198311.1. [Q8VD72-1]
    UniGeneiMm.282660.

    Genome annotation databases

    EnsembliENSMUST00000079146; ENSMUSP00000078148; ENSMUSG00000021013. [Q8VD72-1]
    ENSMUST00000085109; ENSMUSP00000082190; ENSMUSG00000021013. [Q8VD72-2]
    GeneIDi76260.
    KEGGimmu:76260.
    UCSCiuc007oro.2. mouse. [Q8VD72-1]
    uc007orp.2. mouse. [Q8VD72-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK002597 mRNA. Translation: BAB22218.1 .
    AK081697 mRNA. Translation: BAC38298.1 .
    BC017523 mRNA. Translation: AAH17523.1 .
    CCDSi CCDS26101.1. [Q8VD72-2 ]
    CCDS26102.1. [Q8VD72-1 ]
    RefSeqi NP_083829.1. NM_029553.3. [Q8VD72-2 ]
    NP_938053.1. NM_198311.1. [Q8VD72-1 ]
    UniGenei Mm.282660.

    3D structure databases

    ProteinModelPortali Q8VD72.
    SMRi Q8VD72. Positions 231-497.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-60354N.
    IntActi Q8VD72. 3 interactions.
    STRINGi 10090.ENSMUSP00000078148.

    PTM databases

    PhosphoSitei Q8VD72.

    Proteomic databases

    MaxQBi Q8VD72.
    PaxDbi Q8VD72.
    PRIDEi Q8VD72.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000079146 ; ENSMUSP00000078148 ; ENSMUSG00000021013 . [Q8VD72-1 ]
    ENSMUST00000085109 ; ENSMUSP00000082190 ; ENSMUSG00000021013 . [Q8VD72-2 ]
    GeneIDi 76260.
    KEGGi mmu:76260.
    UCSCi uc007oro.2. mouse. [Q8VD72-1 ]
    uc007orp.2. mouse. [Q8VD72-2 ]

    Organism-specific databases

    CTDi 123016.
    MGIi MGI:1923510. Ttc8.

    Phylogenomic databases

    eggNOGi NOG276935.
    GeneTreei ENSGT00530000063455.
    HOGENOMi HOG000255572.
    HOVERGENi HBG044570.
    InParanoidi Q8VD72.
    KOi K16781.
    OMAi LAYQCFK.
    OrthoDBi EOG7VQJDN.
    PhylomeDBi Q8VD72.
    TreeFami TF314892.

    Miscellaneous databases

    NextBioi 344869.
    PROi Q8VD72.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8VD72.
    Bgeei Q8VD72.
    CleanExi MM_TTC8.
    Genevestigatori Q8VD72.

    Family and domain databases

    Gene3Di 1.25.40.10. 5 hits.
    InterProi IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    IPR028796. TTC8/BBS8.
    [Graphical view ]
    PANTHERi PTHR23083:SF39. PTHR23083:SF39. 1 hit.
    Pfami PF07719. TPR_2. 1 hit.
    [Graphical view ]
    SMARTi SM00028. TPR. 5 hits.
    [Graphical view ]
    PROSITEi PS50005. TPR. 6 hits.
    PS50293. TPR_REGION. 2 hits.
    [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] (ISOFORM 2).
      Strain: C57BL/6J.
      Tissue: Head and Kidney.
    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] (ISOFORM 1).
      Strain: C57BL/6J.
      Tissue: Retina.
    3. Cited for: DEVELOPMENTAL STAGE.
    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. Cited for: IDENTIFICATION OF ISOFORM 2, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiTTC8_MOUSE
    AccessioniPrimary (citable) accession number: Q8VD72
    Secondary accession number(s): Q9DCP7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2003
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 111 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