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1 to 24 of 24  Show
  1. 1
    "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLN-386 AND ASN-467.
    Category: Sequences.
    Tissue: Spleen and Tongue.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 12927 other entries.

  2. 2
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-386.
    Category: Sequences.
    Tissue: Fetal kidney.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 2471 other entries.

  3. 3
    "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 7114 other entries.

  4. 4
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  5. 5
    "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], VARIANTS ARG-195; GLN-386; ASN-467 AND VAL-615.
    Category: Sequences.
    Tissue: Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50448 other entries.

  6. 6
    "Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation."
    Marion V., Stoetzel C., Schlicht D., Messaddeq N., Koch M., Flori E., Danse J.M., Mandel J.-L., Dollfus H.
    Proc. Natl. Acad. Sci. U.S.A. 106:1820-1825(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
    Category: Function, Subcellular Location.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 2 other entries.

  7. 7
    "BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly."
    Seo S., Baye L.M., Schulz N.P., Beck J.S., Zhang Q., Slusarski D.C., Sheffield V.C.
    Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN THE CHAPERONIN-CONTAINING T-COMPLEX, CHARACTERIZATION OF VARIANTS BBS12 VAL-113 DEL; LEU-159; PRO-289; THR-346; MET-501 AND VAL-540.
    Category: Function, Pathology & Biotech, Interaction, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 10 and mapped to 45 other entries.

  8. 8
    "A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome."
    Hulleman J.D., Nguyen A., Ramprasad V.L., Murugan S., Gupta R., Mahindrakar A., Angara R., Sankurathri C., Mootha V.V.
    Mol. Vis. 22:73-81(2016) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MKKS.
    Category: Interaction.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 3 other entries.

  9. 9
    "Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome."
    Stoetzel C., Muller J., Laurier V., Davis E.E., Zaghloul N.A., Vicaire S., Jacquelin C., Plewniak F., Leitch C.C., Sarda P., Hamel C., de Ravel T.J., Lewis R.A., Friederich E., Thibault C., Danse J.-M., Verloes A., Bonneau D.
    Dollfus H.
    Am. J. Hum. Genet. 80:1-11(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BBS12 VAL-113 DEL; LEU-159; PRO-289; THR-346; MET-501 AND VAL-540, VARIANTS THR-39 AND VAL-170.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 9 other entries.

  10. 10
    "Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes."
    Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Riise R., Sheffield V.C., Rosenberg T., Brondum-Nielsen K.
    Hum. Mutat. 31:429-436(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BBS12 511-GLN--GLN-513 DEL, VARIANTS THR-39; ARG-408 AND CYS-524.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 3 other entries.

  11. 11
    Cited for: VARIANTS THR-39; SER-119 AND HIS-263, VARIANTS BBS12 ARG-88; GLU-293; GLN-355; MET-400; MET-501; HIS-525; ASP-539 AND CYS-674.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 9 other entries.

  12. 12
    "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis."
    Nachury M.V., Loktev A.V., Zhang Q., Westlake C.J., Peraenen J., Merdes A., Slusarski D.C., Scheller R.H., Bazan J.F., Sheffield V.C., Jackson P.K.
    Cell 129:1201-1213(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5624082.

    This publication is cited by 6 and mapped to 178 other entries.

  13. 13
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5624082.

    This publication is mapped to 43 other entries.

  14. 14
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5624082.

    This publication is mapped to 16 other entries.

  15. 15
    "Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier?"
    Nachury M.V., Seeley E.S., Jin H.
    Annu. Rev. Cell Dev. Biol. 26:59-87(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5624082.

    This publication is mapped to 21 other entries.

  16. 16
    "Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population."
    Billingsley G., Bin J., Fieggen K.J., Duncan J.L., Gerth C., Ogata K., Wodak S.S., Traboulsi E.I., Fishman G.A., Paterson A., Chitayat D., Knueppel T., Millan J.M., Mitchell G.A., Deveault C., Heon E.
    J. Med. Genet. 47:453-463(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Using sequence analysis the role of BBS6 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families.
    Source: GeneRIF:166379.

    This publication is mapped to 9 other entries.

  17. 17
    "The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia."
    Jin H., White S.R., Shida T., Schulz S., Aguiar M., Gygi S.P., Bazan J.F., Nachury M.V.
    Cell 141:1208-1219(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5624082.

    This publication is cited by 1 and mapped to 71 other entries.

  18. 18
    "Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10."
    Dulfer E., Hoefsloot L.H., Timmer A., Mom C., van Essen A.J.
    Am. J. Med. Genet. A 152A:2666-2669(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Mutation in BBS12 accounts for Bardet-Biedl syndrome and termination of pregnancy of a fetus.
    Source: GeneRIF:166379.

    This publication is mapped to 4 other entries.

  19. 19
    "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]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5624082.

    This publication is cited by 17 and mapped to 46 other entries.

  20. 20
    "Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes."
    Zhang Q., Nishimura D., Seo S., Vogel T., Morgan D.A., Searby C., Bugge K., Stone E.M., Rahmouni K., Sheffield V.C.
    Proc. Natl. Acad. Sci. U.S.A. 108:20678-20683(2011) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5624082.

    This publication is mapped to 70 other entries.

  21. 21
    "Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable Bardet-Biedl syndrome protein complex, the BBSome."
    Zhang Q., Yu D., Seo S., Stone E.M., Sheffield V.C.
    J. Biol. Chem. 287:20625-20635(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Interaction.
    Annotation: Pathway. [Reactome:R-HSA-5624082].
    Source: IntAct:Q6ZW61, Reactome:R-HSA-5624082.

    This publication is mapped to 46 other entries.

  22. 22
    "BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response."
    Marion V., Mockel A., De Melo C., Obringer C., Claussmann A., Simon A., Messaddeq N., Durand M., Dupuis L., Loeffler J.P., King P., Mutter-Schmidt C., Petrovsky N., Stoetzel C., Dollfus H.
    Cell Metab. 16:363-377(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: BBS12 inactivation increases glucose absorption by mature human adipocytes increases insulin sensitivity enhances glucose absorption and increases triglyceride content.
    Source: GeneRIF:166379.

    This publication is mapped to 9 other entries.

  23. 23
    "Trafficking in and to the primary cilium."
    Hsiao Y.C., Tuz K., Ferland R.J.
    Cilia 1:4-4(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5624082.

    This publication is mapped to 35 other entries.

  24. 24
    "Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes."
    Alvarez-Satta M., Castro-Sanchez S., Pereiro I., Pineiro-Gallego T., Baiget M., Ayuso C., Valverde D.
    Clin. Genet. 86:601-602(2014) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: novel BBS12 mutations in Bardet-Biedl syndrome patients in Spain.
    Source: GeneRIF:166379.

    This publication is mapped to 12 other entries.

1 to 24 of 24  Show
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