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Q8NFJ9

- BBS1_HUMAN

UniProt

Q8NFJ9 - BBS1_HUMAN

Protein

Bardet-Biedl syndrome 1 protein

Gene

BBS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (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 proper BBSome complex assembly and its ciliary localization.2 Publications

    GO - Molecular functioni

    1. patched binding Source: MGI
    2. protein binding Source: UniProtKB
    3. RNA polymerase II repressing transcription factor binding Source: MGI
    4. smoothened binding Source: MGI

    GO - Biological processi

    1. cilium assembly Source: BHF-UCL
    2. Golgi to plasma membrane protein transport Source: MGI
    3. nonmotile primary cilium assembly Source: BHF-UCL
    4. photoreceptor cell maintenance Source: BHF-UCL
    5. response to stimulus Source: UniProtKB-KW
    6. retina homeostasis Source: BHF-UCL
    7. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Cilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bardet-Biedl syndrome 1 protein
    Alternative name(s):
    BBS2-like protein 2
    Gene namesi
    Name:BBS1
    Synonyms:BBS2L2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:966. BBS1.

    Subcellular locationi

    GO - Cellular componenti

    1. BBSome Source: UniProtKB
    2. ciliary membrane Source: UniProtKB-SubCell
    3. cytoplasm Source: UniProtKB-SubCell
    4. microtubule organizing center Source: UniProtKB-SubCell

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS1, influence the clinical outcome.
    Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351H → R in BBS1. 1 Publication
    VAR_038880
    Natural varianti53 – 531K → E in BBS1. 1 Publication
    VAR_038881
    Natural varianti148 – 1481D → N in BBS1. 1 Publication
    Corresponds to variant rs200688985 [ dbSNP | Ensembl ].
    VAR_038882
    Natural varianti160 – 1601R → Q in BBS1. 2 Publications
    VAR_038883
    Natural varianti200 – 2012Missing in BBS1.
    VAR_017214
    Natural varianti234 – 2341E → K in BBS1. 2 Publications
    Corresponds to variant rs35520756 [ dbSNP | Ensembl ].
    VAR_017215
    Natural varianti305 – 3051G → S in BBS1. 1 Publication
    VAR_038884
    Natural varianti330 – 3301I → T in BBS1. 1 Publication
    VAR_066278
    Natural varianti389 – 3891Missing in BBS1. 1 Publication
    VAR_038885
    Natural varianti390 – 3901M → R in BBS1. 7 Publications
    Corresponds to variant rs113624356 [ dbSNP | Ensembl ].
    VAR_017216
    Natural varianti434 – 4341Y → S in BBS1.
    VAR_038886
    Natural varianti503 – 5031L → H in BBS1. 1 Publication
    VAR_038887
    Natural varianti518 – 5181L → P in BBS1. 2 Publications
    VAR_017217
    Natural varianti518 – 5181L → Q in BBS1. 1 Publication
    VAR_038888
    Natural varianti524 – 5241Missing in BBS1. 1 Publication
    VAR_066279

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

    Organism-specific databases

    MIMi209900. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    PharmGKBiPA25275.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 593592Bardet-Biedl syndrome 1 proteinPRO_0000064841Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ8NFJ9.
    PaxDbiQ8NFJ9.
    PRIDEiQ8NFJ9.

    PTM databases

    PhosphoSiteiQ8NFJ9.

    Expressioni

    Tissue specificityi

    Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.

    Gene expression databases

    BgeeiQ8NFJ9.
    CleanExiHS_BBS1.
    GenevestigatoriQ8NFJ9.

    Organism-specific databases

    HPAiHPA058283.

    Interactioni

    Subunit structurei

    Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B and ALDOB.4 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ALDOBP050624EBI-1805484,EBI-1045507
    ARL6Q9H0F74EBI-1805484,EBI-2891949
    BBS2Q9BXC96EBI-1805484,EBI-748297
    BBS4Q96RK45EBI-1805484,EBI-1805814
    BBS7Q8IWZ66EBI-1805484,EBI-1806001
    BBS9Q3SYG46EBI-1805484,EBI-2826852
    EEF1A1P681043EBI-1805484,EBI-352162
    LeprP48356-13EBI-1805484,EBI-6143588From a different organism.
    PCM1Q151542EBI-1805484,EBI-741421
    RAB3IPQ96QF0-12EBI-1805484,EBI-747860

    Protein-protein interaction databases

    BioGridi107058. 18 interactions.
    DIPiDIP-46564N.
    IntActiQ8NFJ9. 32 interactions.
    STRINGi9606.ENSP00000353701.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NFJ9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG84787.
    HOGENOMiHOG000260890.
    HOVERGENiHBG045407.
    InParanoidiQ8NFJ9.
    KOiK16746.
    OMAiLTAHINM.
    PhylomeDBiQ8NFJ9.
    TreeFamiTF312892.

    Family and domain databases

    InterProiIPR028784. BBS1.
    IPR011047. Quinonprotein_ADH-like_supfam.
    [Graphical view]
    PANTHERiPTHR20870:SF0. PTHR20870:SF0. 1 hit.
    SUPFAMiSSF50998. SSF50998. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NFJ9-1) [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

    MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG    50
    EYKLVVGDLG PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR 100
    TPALALASGP CVYVYKNLRP YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL 150
    TLKEMLESIR ETAEEPLSIQ SLRFLQLELS EMEAFVNQHK SNSIKRQTVI 200
    TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA KMSLPSVPVF 250
    LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK 300
    VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL 350
    ANGEVRIYRD KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK 400
    ILKRTAVFVE GGSEVGPPPA QAMKLNVPRK TRLYVDQTLR EREAGTAMHR 450
    AFQTDLYLLR LRAARAYLQA LESSLSPLST TAREPLKLHA VVQGLGPTFK 500
    LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL VPGLNYPLET 550
    FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA 593
    Length:593
    Mass (Da):65,083
    Last modified:October 1, 2002 - v1
    Checksum:i94C0C05667FE582D
    GO
    Isoform 3 (identifier: Q8NFJ9-2) [UniParc]FASTAAdd to Basket

    Also known as: DPP3-BBS1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-16: MAAASSSDSDACGAES → MDPSWRRSSHSWPQPMPDSGRAPVRPHLAKLEEDVWPCPQFHQTKAASGPPFV

    Note: Based on a readthrough transcript which may produce a DPP3-BBS1 fusion protein. No experimental confirmation available.

    Show »
    Length:630
    Mass (Da):69,658
    Checksum:i0226F9D57F35804D
    GO
    Isoform 2 (identifier: Q8NFJ9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         242-370: Missing.
         567-593: LVLREGQSAPLLSAHVNMPGSEGLAAA → GPALVPRGR

    Note: No experimental confirmation available.

    Show »
    Length:446
    Mass (Da):49,006
    Checksum:iECADC15B2602C988
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351H → R in BBS1. 1 Publication
    VAR_038880
    Natural varianti53 – 531K → E in BBS1. 1 Publication
    VAR_038881
    Natural varianti148 – 1481D → N in BBS1. 1 Publication
    Corresponds to variant rs200688985 [ dbSNP | Ensembl ].
    VAR_038882
    Natural varianti160 – 1601R → Q in BBS1. 2 Publications
    VAR_038883
    Natural varianti200 – 2012Missing in BBS1.
    VAR_017214
    Natural varianti206 – 2061L → V in a patient with Bardet-Biedl syndrome. 1 Publication
    Corresponds to variant rs146052054 [ dbSNP | Ensembl ].
    VAR_066485
    Natural varianti234 – 2341E → K in BBS1. 2 Publications
    Corresponds to variant rs35520756 [ dbSNP | Ensembl ].
    VAR_017215
    Natural varianti245 – 2451P → L in a patient with Bardet-Biedl syndrome. 1 Publication
    VAR_066486
    Natural varianti305 – 3051G → S in BBS1. 1 Publication
    VAR_038884
    Natural varianti330 – 3301I → T in BBS1. 1 Publication
    VAR_066278
    Natural varianti389 – 3891Missing in BBS1. 1 Publication
    VAR_038885
    Natural varianti390 – 3901M → R in BBS1. 7 Publications
    Corresponds to variant rs113624356 [ dbSNP | Ensembl ].
    VAR_017216
    Natural varianti434 – 4341Y → S in BBS1.
    VAR_038886
    Natural varianti503 – 5031L → H in BBS1. 1 Publication
    VAR_038887
    Natural varianti518 – 5181L → P in BBS1. 2 Publications
    VAR_017217
    Natural varianti518 – 5181L → Q in BBS1. 1 Publication
    VAR_038888
    Natural varianti524 – 5241Missing in BBS1. 1 Publication
    VAR_066279
    Natural varianti559 – 5591G → D in a patient with Meckel-Gruber like syndrome also carrying L-753 in TTC21B and a variant in CC2D2A. 1 Publication
    VAR_065554

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1616MAAAS…CGAES → MDPSWRRSSHSWPQPMPDSG RAPVRPHLAKLEEDVWPCPQ FHQTKAASGPPFV in isoform 3. 2 PublicationsVSP_008854Add
    BLAST
    Alternative sequencei242 – 370129Missing in isoform 2. CuratedVSP_054152Add
    BLAST
    Alternative sequencei567 – 59327LVLRE…GLAAA → GPALVPRGR in isoform 2. CuratedVSP_054153Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF503941 mRNA. Translation: AAM92770.1.
    AK027645 mRNA. Translation: BAB55261.1.
    AP002748 Genomic DNA. No translation available.
    BC109064 mRNA. Translation: AAI09065.1.
    BC109065 mRNA. Translation: AAI09066.1.
    CCDSiCCDS8142.1. [Q8NFJ9-1]
    RefSeqiNP_078925.3. NM_024649.4. [Q8NFJ9-1]
    UniGeneiHs.502915.

    Genome annotation databases

    EnsembliENST00000318312; ENSP00000317469; ENSG00000174483. [Q8NFJ9-1]
    ENST00000393994; ENSP00000377563; ENSG00000174483. [Q8NFJ9-3]
    GeneIDi582.
    KEGGihsa:582.
    UCSCiuc001oii.1. human. [Q8NFJ9-2]
    uc001oij.1. human. [Q8NFJ9-1]

    Polymorphism databases

    DMDMi38257662.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the BBS1 gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF503941 mRNA. Translation: AAM92770.1 .
    AK027645 mRNA. Translation: BAB55261.1 .
    AP002748 Genomic DNA. No translation available.
    BC109064 mRNA. Translation: AAI09065.1 .
    BC109065 mRNA. Translation: AAI09066.1 .
    CCDSi CCDS8142.1. [Q8NFJ9-1 ]
    RefSeqi NP_078925.3. NM_024649.4. [Q8NFJ9-1 ]
    UniGenei Hs.502915.

    3D structure databases

    ProteinModelPortali Q8NFJ9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107058. 18 interactions.
    DIPi DIP-46564N.
    IntActi Q8NFJ9. 32 interactions.
    STRINGi 9606.ENSP00000353701.

    PTM databases

    PhosphoSitei Q8NFJ9.

    Polymorphism databases

    DMDMi 38257662.

    Proteomic databases

    MaxQBi Q8NFJ9.
    PaxDbi Q8NFJ9.
    PRIDEi Q8NFJ9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000318312 ; ENSP00000317469 ; ENSG00000174483 . [Q8NFJ9-1 ]
    ENST00000393994 ; ENSP00000377563 ; ENSG00000174483 . [Q8NFJ9-3 ]
    GeneIDi 582.
    KEGGi hsa:582.
    UCSCi uc001oii.1. human. [Q8NFJ9-2 ]
    uc001oij.1. human. [Q8NFJ9-1 ]

    Organism-specific databases

    CTDi 582.
    GeneCardsi GC11P066276.
    GeneReviewsi BBS1.
    HGNCi HGNC:966. BBS1.
    HPAi HPA058283.
    MIMi 209900. phenotype.
    209901. gene.
    neXtProti NX_Q8NFJ9.
    Orphaneti 110. Bardet-Biedl syndrome.
    PharmGKBi PA25275.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG84787.
    HOGENOMi HOG000260890.
    HOVERGENi HBG045407.
    InParanoidi Q8NFJ9.
    KOi K16746.
    OMAi LTAHINM.
    PhylomeDBi Q8NFJ9.
    TreeFami TF312892.

    Miscellaneous databases

    GeneWikii BBS1.
    GenomeRNAii 582.
    NextBioi 2383.
    PROi Q8NFJ9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NFJ9.
    CleanExi HS_BBS1.
    Genevestigatori Q8NFJ9.

    Family and domain databases

    InterProi IPR028784. BBS1.
    IPR011047. Quinonprotein_ADH-like_supfam.
    [Graphical view ]
    PANTHERi PTHR20870:SF0. PTHR20870:SF0. 1 hit.
    SUPFAMi SSF50998. SSF50998. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT BBS1 ARG-390.
    2. "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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 1 AND 3).
    5. Cited for: INTERACTION WITH CCDC28B.
    6. "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]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBUNIT, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH RAB3IP.
    7. Cited for: INTERACTION WITH ALDOB.
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    9. "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: FUNCTION, FUNCTION OF THE BBSOME COMPLEX, IDENTIFICATION IN THE BBSOME COMPLEX, SUBCELLULAR LOCATION.
    10. Cited for: VARIANTS BBS1 200-ILE-THR-201 DEL; ARG-390 AND PRO-518.
    11. "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: VARIANT BBS1 LYS-234.
    12. "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome."
      Beales P.L., Badano J.L., Ross A.J., Ansley S.J., Hoskins B.E., Kirsten B., Mein C.A., Froguel P., Scambler P.J., Lewis R.A., Lupski J.R., Katsanis N.
      Am. J. Hum. Genet. 72:1187-1199(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BBS1 ARG-35; GLU-53; ASN-148; LYS-234; SER-305; ILE-389 DEL; ARG-390; SER-434 HIS-503 AND GLN-518.
    13. "Further support for digenic inheritance in Bardet-Biedl syndrome."
      Fauser S., Munz M., Besch D.
      J. Med. Genet. 40:E104-E104(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BBS1 ARG-390 AND PRO-518.
    14. Cited for: VARIANTS BBS1 GLN-160 AND ARG-390.
    15. "Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals."
      Janssen S., Ramaswami G., Davis E.E., Hurd T., Airik R., Kasanuki J.M., Van Der Kraak L., Allen S.J., Beales P.L., Katsanis N., Otto E.A., Hildebrandt F.
      Hum. Genet. 129:79-90(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VAL-206 AND LEU-245, VARIANT BBS1 ARG-390.
    16. Cited for: VARIANT ASP-559, INVOLVEMENT IN CILIOPATHIES.
    17. Cited for: VARIANTS BBS1 GLN-160; THR-330; ARG-390 AND ASN-524 DEL.

    Entry informationi

    Entry nameiBBS1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NFJ9
    Secondary accession number(s): Q32MM9, Q32MN0, Q96SN4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 7, 2003
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 98 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3