ID   BBIP1_DANRE             Reviewed;          72 AA.
AC   Q1L8Y6;
DT   01-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT   30-MAY-2006, sequence version 1.
DT   03-AUG-2022, entry version 92.
DE   RecName: Full=BBSome-interacting protein 1;
DE   AltName: Full=BBSome-interacting protein of 10 kDa;
GN   Name=bbip1; Synonyms=bbip10; ORFNames=si:ch211-159c12.2, si:ch211-197i12.2;
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=Tuebingen;
RX   PubMed=23594743; DOI=10.1038/nature12111;
RA   Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA   Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA   Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA   White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA   Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA   Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA   Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA   Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA   Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA   Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA   Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA   Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA   Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA   Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA   Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA   McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA   Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA   Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA   Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA   Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA   Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA   Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA   Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA   Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA   Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA   Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA   Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA   Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA   de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA   Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT   "The zebrafish reference genome sequence and its relationship to the human
RT   genome.";
RL   Nature 496:498-503(2013).
RN   [2]
RP   FUNCTION, AND DISRUPTION PHENOTYPE.
RA   Loktev A.V., Zhang Q., Beck J.S., Searby C.C., Scheetz T.E., Bazan F.,
RA   Slusarski D.C., Sheffield V.C., Jackson P.K., Nachury M.V.;
RT   "A BBSome subunit links ciliogenesis, microtubule stability and
RT   acetylation.";
RL   Dev. Cell 15:854-865(2008).
RN   [3]
RP   DISRUPTION PHENOTYPE.
RX   PubMed=24026985; DOI=10.1136/jmedgenet-2013-101785;
RA   Scheidecker S., Etard C., Pierce N.W., Geoffroy V., Schaefer E., Muller J.,
RA   Chennen K., Flori E., Pelletier V., Poch O., Marion V., Stoetzel C.,
RA   Straehle U., Nachury M.V., Dollfus H.;
RT   "Exome sequencing of Bardet-Biedl syndrome patient identifies a null
RT   mutation in the BBSome subunit BBIP1 (BBS18).";
RL   J. Med. Genet. 51:132-136(2014).
CC   -!- FUNCTION: Required for primary cilia assembly. {ECO:0000269|Ref.2}.
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}. Cytoplasm
CC       {ECO:0000250}.
CC   -!- DISRUPTION PHENOTYPE: Embryos display defective melanosome transport
CC       and disruption of the ciliated Kupffer's vesicle phenotypes. BBIP1
CC       morpholino knockdown results in bilateral cystic dilations of the
CC       pronephros. Pronephric cilia of morphants are abnormally short and fail
CC       to maintain a parallel orientation to the anteroposterior axis of the
CC       duct. Morphants also show increased frequency of situs inversus
CC       compared to wild-type and abnormal retinal development.
CC       {ECO:0000269|PubMed:24026985, ECO:0000269|Ref.2}.
CC   -!- MISCELLANEOUS: BBIP10 interacts genetically with BBS1.
CC   -!- SIMILARITY: Belongs to the BBIP10 family. {ECO:0000305}.
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DR   EMBL; BX005362; CAK04186.1; -; Genomic_DNA.
DR   EMBL; CR450802; CAK04355.1; -; Genomic_DNA.
DR   RefSeq; NP_001159595.1; NM_001166123.1.
DR   AlphaFoldDB; Q1L8Y6; -.
DR   SMR; Q1L8Y6; -.
DR   BioGRID; 660587; 3.
DR   STRING; 7955.ENSDARP00000118928; -.
DR   PaxDb; Q1L8Y6; -.
DR   PRIDE; Q1L8Y6; -.
DR   Ensembl; ENSDART00000146280; ENSDARP00000118928; ENSDARG00000071046.
DR   Ensembl; ENSDART00000180212; ENSDARP00000150533; ENSDARG00000112897.
DR   Ensembl; ENSDART00000186137; ENSDARP00000150470; ENSDARG00000116522.
DR   GeneID; 795943; -.
DR   KEGG; dre:795943; -.
DR   CTD; 92482; -.
DR   ZFIN; ZDB-GENE-050208-445; bbip1.
DR   eggNOG; ENOG502S7YW; Eukaryota.
DR   GeneTree; ENSGT00390000009265; -.
DR   HOGENOM; CLU_185680_0_0_1; -.
DR   InParanoid; Q1L8Y6; -.
DR   OMA; MKSMFRE; -.
DR   OrthoDB; 1627836at2759; -.
DR   PhylomeDB; Q1L8Y6; -.
DR   TreeFam; TF322869; -.
DR   Reactome; R-DRE-5620922; BBSome-mediated cargo-targeting to cilium.
DR   PRO; PR:Q1L8Y6; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Chromosome 22.
DR   Bgee; ENSDARG00000071046; Expressed in testis and 21 other tissues.
DR   GO; GO:0034464; C:BBSome; IBA:GO_Central.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR   GO; GO:0060271; P:cilium assembly; IEA:InterPro.
DR   GO; GO:0070121; P:Kupffer's vesicle development; IMP:ZFIN.
DR   GO; GO:0032402; P:melanosome transport; IMP:ZFIN.
DR   GO; GO:0097500; P:receptor localization to non-motile cilium; IBA:GO_Central.
DR   InterPro; IPR028233; BBIP10.
DR   PANTHER; PTHR28596; PTHR28596; 1.
DR   Pfam; PF14777; BBIP10; 1.
PE   3: Inferred from homology;
KW   Cell projection; Cilium; Cytoplasm; Reference proteome.
FT   CHAIN           1..72
FT                   /note="BBSome-interacting protein 1"
FT                   /id="PRO_0000342379"
SQ   SEQUENCE   72 AA;  8291 MW;  F4FFFDDFF35E5B8C CRC64;
     MPEVKSMFRE VLPKQGQLSM EDVPTMVLCK PKLLPLKSVT LEKLEKMQKD AQEIIRQQEL
     ALKEQPPSEK AE