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Q8N3I7

- BBS5_HUMAN

UniProt

Q8N3I7 - BBS5_HUMAN

Protein

Bardet-Biedl syndrome 5 protein

Gene

BBS5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (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.2 Publications

    GO - Molecular functioni

    1. phosphatidylinositol-3-phosphate binding Source: BHF-UCL
    2. protein binding Source: UniProtKB
    3. RNA polymerase II repressing transcription factor binding Source: MGI

    GO - Biological processi

    1. cilium assembly Source: BHF-UCL
    2. heart looping Source: BHF-UCL
    3. melanosome transport Source: BHF-UCL
    4. motile cilium assembly Source: BHF-UCL
    5. protein transport Source: UniProtKB-KW
    6. response to stimulus Source: UniProtKB-KW
    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 5 protein
    Gene namesi
    Name:BBS5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:970. BBS5.

    Subcellular locationi

    GO - Cellular componenti

    1. BBSome Source: UniProtKB
    2. ciliary basal body Source: BHF-UCL
    3. ciliary membrane Source: UniProtKB-SubCell
    4. cytoplasm Source: UniProtKB-SubCell
    5. intracellular Source: LIFEdb

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Bardet-Biedl syndrome 5 (BBS5) [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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721G → S in BBS5. 1 Publication
    VAR_066290

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi209900. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    PharmGKBiPA25279.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 341341Bardet-Biedl syndrome 5 proteinPRO_0000223254Add
    BLAST

    Proteomic databases

    MaxQBiQ8N3I7.
    PaxDbiQ8N3I7.
    PRIDEiQ8N3I7.

    PTM databases

    PhosphoSiteiQ8N3I7.

    Expressioni

    Gene expression databases

    BgeeiQ8N3I7.
    CleanExiHS_BBS5.
    GenevestigatoriQ8N3I7.

    Organism-specific databases

    HPAiHPA036416.

    Interactioni

    Subunit structurei

    Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Binds to phosphoinositides. 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.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BBS9Q3SYG43EBI-2892592,EBI-2826852

    Protein-protein interaction databases

    DIPiDIP-60357N.
    IntActiQ8N3I7. 8 interactions.
    MINTiMINT-3039679.
    STRINGi9606.ENSP00000295240.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N3I7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the BBS5 family.Curated

    Phylogenomic databases

    eggNOGiNOG82102.
    HOGENOMiHOG000231964.
    HOVERGENiHBG053449.
    InParanoidiQ8N3I7.
    KOiK16748.
    OMAiELGFAME.
    OrthoDBiEOG7NCV3S.
    PhylomeDBiQ8N3I7.
    TreeFamiTF106129.

    Family and domain databases

    InterProiIPR006606. BBL5.
    [Graphical view]
    PANTHERiPTHR21351. PTHR21351. 1 hit.
    PfamiPF07289. DUF1448. 1 hit.
    [Graphical view]
    PIRSFiPIRSF010072. DUF1448. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N3I7-1) [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

    MSVLDALWED RDVRFDLSAQ QMKTRPGEVL IDCLDSIEDT KGNNGDRGRL    50
    LVTNLRILWH SLALSRVNVS VGYNCILNIT TRTANSKLRG QTEALYILTK 100
    CNSTRFEFIF TNLVPGSPRL FTSVMAVHRA YETSKMYRDF KLRSALIQNK 150
    QLRLLPQEHV YDKINGVWNL SSDQGNLGTF FITNVRIVWH ANMNDSFNVS 200
    IPYLQIRSIK IRDSKFGLAL VIESSQQSGG YVLGFKIDPV EKLQESVKEI 250
    NSLHKVYSAS PIFGVDYEME EKPQPLEALT VEQIQDDVEI DSDGHTDAFV 300
    AYFADGNKQQ DREPVFSEEL GLAIEKLKDG FTLQGLWEVM S 341
    Length:341
    Mass (Da):38,755
    Last modified:October 1, 2002 - v1
    Checksum:i63D67D877FDFD25B
    GO
    Isoform 2 (identifier: Q8N3I7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         207-227: Missing.

    Show »
    Length:320
    Mass (Da):36,397
    Checksum:i843BC731AE686410
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721G → S in BBS5. 1 Publication
    VAR_066290
    Natural varianti184 – 1841N → S Found in patients with Bardet-Biedl syndrome carrying homozygous mutations in other BBS genes; might have a modifying effect on disease phenotype. 2 Publications
    Corresponds to variant rs150063999 [ dbSNP | Ensembl ].
    VAR_025316
    Natural varianti207 – 2071R → H Found as heterozygous variant in patients with Bardet-Biedl syndrome; might have a modifying effect on disease phenotype. 1 Publication
    Corresponds to variant rs35487251 [ dbSNP | Ensembl ].
    VAR_025317
    Natural varianti251 – 2511N → D.1 Publication
    Corresponds to variant rs143113298 [ dbSNP | Ensembl ].
    VAR_066291

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei207 – 22721Missing in isoform 2. 1 PublicationVSP_017240Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY604003 mRNA. Translation: AAT08182.1.
    AY604004 mRNA. Translation: AAT08183.1.
    AL834305 mRNA. Translation: CAD38975.1.
    AC093899 Genomic DNA. Translation: AAY24116.1.
    CH471058 Genomic DNA. Translation: EAX11276.1.
    CH471058 Genomic DNA. Translation: EAX11279.1.
    BC044593 mRNA. Translation: AAH44593.1.
    CCDSiCCDS2233.1. [Q8N3I7-1]
    RefSeqiNP_689597.1. NM_152384.2. [Q8N3I7-1]
    UniGeneiHs.233398.

    Genome annotation databases

    EnsembliENST00000295240; ENSP00000295240; ENSG00000163093. [Q8N3I7-1]
    ENST00000392663; ENSP00000376431; ENSG00000163093. [Q8N3I7-2]
    GeneIDi129880.
    KEGGihsa:129880.
    UCSCiuc002uet.3. human. [Q8N3I7-1]
    uc010fpw.3. human. [Q8N3I7-2]

    Polymorphism databases

    DMDMi74750959.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY604003 mRNA. Translation: AAT08182.1 .
    AY604004 mRNA. Translation: AAT08183.1 .
    AL834305 mRNA. Translation: CAD38975.1 .
    AC093899 Genomic DNA. Translation: AAY24116.1 .
    CH471058 Genomic DNA. Translation: EAX11276.1 .
    CH471058 Genomic DNA. Translation: EAX11279.1 .
    BC044593 mRNA. Translation: AAH44593.1 .
    CCDSi CCDS2233.1. [Q8N3I7-1 ]
    RefSeqi NP_689597.1. NM_152384.2. [Q8N3I7-1 ]
    UniGenei Hs.233398.

    3D structure databases

    ProteinModelPortali Q8N3I7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-60357N.
    IntActi Q8N3I7. 8 interactions.
    MINTi MINT-3039679.
    STRINGi 9606.ENSP00000295240.

    PTM databases

    PhosphoSitei Q8N3I7.

    Polymorphism databases

    DMDMi 74750959.

    Proteomic databases

    MaxQBi Q8N3I7.
    PaxDbi Q8N3I7.
    PRIDEi Q8N3I7.

    Protocols and materials databases

    DNASUi 129880.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295240 ; ENSP00000295240 ; ENSG00000163093 . [Q8N3I7-1 ]
    ENST00000392663 ; ENSP00000376431 ; ENSG00000163093 . [Q8N3I7-2 ]
    GeneIDi 129880.
    KEGGi hsa:129880.
    UCSCi uc002uet.3. human. [Q8N3I7-1 ]
    uc010fpw.3. human. [Q8N3I7-2 ]

    Organism-specific databases

    CTDi 129880.
    GeneCardsi GC02P170335.
    GeneReviewsi BBS5.
    HGNCi HGNC:970. BBS5.
    HPAi HPA036416.
    MIMi 209900. phenotype.
    603650. gene.
    neXtProti NX_Q8N3I7.
    Orphaneti 110. Bardet-Biedl syndrome.
    PharmGKBi PA25279.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG82102.
    HOGENOMi HOG000231964.
    HOVERGENi HBG053449.
    InParanoidi Q8N3I7.
    KOi K16748.
    OMAi ELGFAME.
    OrthoDBi EOG7NCV3S.
    PhylomeDBi Q8N3I7.
    TreeFami TF106129.

    Miscellaneous databases

    GeneWikii BBS5.
    GenomeRNAii 129880.
    NextBioi 82665.
    PROi Q8N3I7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8N3I7.
    CleanExi HS_BBS5.
    Genevestigatori Q8N3I7.

    Family and domain databases

    InterProi IPR006606. BBL5.
    [Graphical view ]
    PANTHERi PTHR21351. PTHR21351. 1 hit.
    Pfami PF07289. DUF1448. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF010072. DUF1448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INVOLVEMENT IN BBS5, VARIANTS SER-184 AND HIS-207.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Melanoma.
    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.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORM 1).
      Tissue: Testis.
    6. Cited for: INTERACTION WITH CCDC28B.
    7. "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, BINDING TO PHOSPHOINOSITIDES.
    8. "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, INTERACTION WITH SMO, SUBCELLULAR LOCATION.
    9. Cited for: VARIANT BBS5 SER-72, VARIANTS SER-184 AND ASP-251.

    Entry informationi

    Entry nameiBBS5_HUMAN
    AccessioniPrimary (citable) accession number: Q8N3I7
    Secondary accession number(s): D3DPC3, Q6PKN0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 7, 2006
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 106 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

    Miscellaneous

    BBS5 may interact genetically with BBS1.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3