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A8MTZ0

- BBIP1_HUMAN

UniProt

A8MTZ0 - BBIP1_HUMAN

Protein

BBSome-interacting protein 1

Gene

BBIP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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 primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. protein transport Source: UniProtKB-KW

    Keywords - Biological processi

    Cilium biogenesis/degradation, Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    BBSome-interacting protein 1
    Alternative name(s):
    BBSome-interacting protein of 10 kDa
    Gene namesi
    Name:BBIP1
    Synonyms:BBIP10, NCRNA00081
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:28093. BBIP1.

    Subcellular locationi

    Cell projectioncilium 1 Publication. Cytoplasm 1 Publication
    Note: Localizes inside the primary cilium but not at centriolar satellites.

    GO - Cellular componenti

    1. BBSome Source: UniProtKB
    2. cilium Source: UniProtKB-SubCell
    3. cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Bardet-Biedl syndrome 18 (BBS18) [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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Obesity

    Organism-specific databases

    MIMi209900. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 9292BBSome-interacting protein 1PRO_0000342378Add
    BLAST

    Proteomic databases

    PRIDEiA8MTZ0.

    Expressioni

    Gene expression databases

    ArrayExpressiA8MTZ0.
    BgeeiA8MTZ0.
    GenevestigatoriA8MTZ0.

    Organism-specific databases

    HPAiHPA055206.

    Interactioni

    Subunit structurei

    Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. Interacts with HDAC6.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BBS4Q96RK43EBI-2892417,EBI-1805814

    Protein-protein interaction databases

    IntActiA8MTZ0. 6 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliA8MTZ0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the BBIP10 family.Curated

    Phylogenomic databases

    HOVERGENiHBG083245.
    InParanoidiA8MTZ0.
    OMAiPKQGQLS.
    OrthoDBiEOG7P02MX.
    PhylomeDBiA8MTZ0.

    Family and domain databases

    InterProiIPR028233. BBIP10.
    [Graphical view]
    PfamiPF14777. BBIP10. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: A8MTZ0-1) [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

    MLKAAAKRPE LSGKNTISNN SDMAEVKSMF REVLPKQGPL FVEDIMTMVL   50
    CKPKLLPLKS LTLEKLEKMH QAAQNTIRQQ EMAEKDQRQI TH 92
    Length:92
    Mass (Da):10,506
    Last modified:July 1, 2008 - v2
    Checksum:i25F2EE32DF0B948D
    GO
    Isoform 2 (identifier: A8MTZ0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-22: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:70
    Mass (Da):8,179
    Checksum:iC6E5B03044F1EAA5
    GO
    Isoform 3 (identifier: A8MTZ0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         14-38: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:67
    Mass (Da):7,700
    Checksum:iA4ABCD5FA8AEFF71
    GO
    Isoform 4 (identifier: A8MTZ0-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         14-92: KNTISNNSDM...AEKDQRQITH → LLKFNNYGIL...CGRYNDNGAV

    Note: No experimental confirmation available.

    Show »
    Length:103
    Mass (Da):11,459
    Checksum:i94A2A9987479A937
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2222Missing in isoform 2. 1 PublicationVSP_045981Add
    BLAST
    Alternative sequencei14 – 9279KNTIS…RQITH → LLKFNNYGILSESPLTSQRT TWLLYQSPSFIPGFAYPSRC LKTIGGVYKQARKKHYIQQL RYGRSEVNVPGSSSKARATV CGRYNDNGAV in isoform 4. 1 PublicationVSP_046433Add
    BLAST
    Alternative sequencei14 – 3825Missing in isoform 3. 1 PublicationVSP_046434Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK307126 mRNA. No translation available.
    AK307314 mRNA. No translation available.
    DA520878 mRNA. No translation available.
    AL158163 Genomic DNA. No translation available.
    BC015550 mRNA. No translation available.
    BU189144 mRNA. No translation available.
    CCDSiCCDS55726.1. [A8MTZ0-3]
    CCDS55727.1. [A8MTZ0-1]
    CCDS55728.1. [A8MTZ0-4]
    CCDS58094.1. [A8MTZ0-2]
    RefSeqiNP_001182233.1. NM_001195304.1. [A8MTZ0-4]
    NP_001182234.1. NM_001195305.1. [A8MTZ0-1]
    NP_001182235.1. NM_001195306.1. [A8MTZ0-1]
    NP_001182236.1. NM_001195307.1. [A8MTZ0-3]
    NP_001230712.1. NM_001243783.1. [A8MTZ0-2]
    UniGeneiHs.232543.
    Hs.651480.

    Genome annotation databases

    EnsembliENST00000423273; ENSP00000432274; ENSG00000214413. [A8MTZ0-3]
    ENST00000436562; ENSP00000431936; ENSG00000214413. [A8MTZ0-2]
    ENST00000447005; ENSP00000432849; ENSG00000214413. [A8MTZ0-2]
    ENST00000448814; ENSP00000436622; ENSG00000214413. [A8MTZ0-1]
    ENST00000454061; ENSP00000433157; ENSG00000214413. [A8MTZ0-4]
    ENST00000605742; ENSP00000474675; ENSG00000214413. [A8MTZ0-1]
    GeneIDi92482.
    KEGGihsa:92482.
    UCSCiuc001kzj.3. human. [A8MTZ0-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK307126 mRNA. No translation available.
    AK307314 mRNA. No translation available.
    DA520878 mRNA. No translation available.
    AL158163 Genomic DNA. No translation available.
    BC015550 mRNA. No translation available.
    BU189144 mRNA. No translation available.
    CCDSi CCDS55726.1. [A8MTZ0-3 ]
    CCDS55727.1. [A8MTZ0-1 ]
    CCDS55728.1. [A8MTZ0-4 ]
    CCDS58094.1. [A8MTZ0-2 ]
    RefSeqi NP_001182233.1. NM_001195304.1. [A8MTZ0-4 ]
    NP_001182234.1. NM_001195305.1. [A8MTZ0-1 ]
    NP_001182235.1. NM_001195306.1. [A8MTZ0-1 ]
    NP_001182236.1. NM_001195307.1. [A8MTZ0-3 ]
    NP_001230712.1. NM_001243783.1. [A8MTZ0-2 ]
    UniGenei Hs.232543.
    Hs.651480.

    3D structure databases

    ProteinModelPortali A8MTZ0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi A8MTZ0. 6 interactions.

    Proteomic databases

    PRIDEi A8MTZ0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000423273 ; ENSP00000432274 ; ENSG00000214413 . [A8MTZ0-3 ]
    ENST00000436562 ; ENSP00000431936 ; ENSG00000214413 . [A8MTZ0-2 ]
    ENST00000447005 ; ENSP00000432849 ; ENSG00000214413 . [A8MTZ0-2 ]
    ENST00000448814 ; ENSP00000436622 ; ENSG00000214413 . [A8MTZ0-1 ]
    ENST00000454061 ; ENSP00000433157 ; ENSG00000214413 . [A8MTZ0-4 ]
    ENST00000605742 ; ENSP00000474675 ; ENSG00000214413 . [A8MTZ0-1 ]
    GeneIDi 92482.
    KEGGi hsa:92482.
    UCSCi uc001kzj.3. human. [A8MTZ0-1 ]

    Organism-specific databases

    CTDi 92482.
    GeneCardsi GC10M112658.
    HGNCi HGNC:28093. BBIP1.
    HPAi HPA055206.
    MIMi 209900. phenotype.
    613605. gene.
    neXtProti NX_A8MTZ0.
    Orphaneti 110. Bardet-Biedl syndrome.
    GenAtlasi Search...

    Phylogenomic databases

    HOVERGENi HBG083245.
    InParanoidi A8MTZ0.
    OMAi PKQGQLS.
    OrthoDBi EOG7P02MX.
    PhylomeDBi A8MTZ0.

    Miscellaneous databases

    GenomeRNAii 92482.
    NextBioi 77766.
    PROi A8MTZ0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi A8MTZ0.
    Bgeei A8MTZ0.
    Genevestigatori A8MTZ0.

    Family and domain databases

    InterProi IPR028233. BBIP10.
    [Graphical view ]
    Pfami PF14777. BBIP10. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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] (ISOFORMS 1; 3 AND 4).
      Tissue: Fetal brain and Testis.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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 2).
      Tissue: Bone marrow.
    4. "A BBSome subunit links ciliogenesis, microtubule stability and acetylation."
      Loktev A.V., Zhang Q., Beck J.S., Searby C.C., Scheetz T.E., Bazan F., Slusarski D.C., Sheffield V.C., Jackson P.K., Nachury M.V.
      Dev. Cell 15:854-865(2008)
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, INTERACTION WITH HDAC6.
    5. "Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)."
      Scheidecker S., Etard C., Pierce N.W., Geoffroy V., Schaefer E., Muller J., Chennen K., Flori E., Pelletier V., Poch O., Marion V., Stoetzel C., Straehle U., Nachury M.V., Dollfus H.
      J. Med. Genet. 51:132-136(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN BBS18.

    Entry informationi

    Entry nameiBBIP1_HUMAN
    AccessioniPrimary (citable) accession number: A8MTZ0
    Secondary accession number(s): E9PIY9, E9PM41, E9PRI7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 2008
    Last sequence update: July 1, 2008
    Last modified: October 1, 2014
    This is version 47 of the entry and version 2 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 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3