ID A0A3B1KI13_ASTMX Unreviewed; 334 AA.
AC A0A3B1KI13;
DT 05-DEC-2018, integrated into UniProtKB/TrEMBL.
DT 05-DEC-2018, sequence version 1.
DT 28-JAN-2026, entry version 33.
DE RecName: Full=Bardet-Biedl syndrome 5 protein homolog {ECO:0000256|PIRNR:PIRNR010072};
OS Astyanax mexicanus (Blind cave fish) (Astyanax fasciatus mexicanus).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Characiformes;
OC Characoidei; Acestrorhamphidae; Acestrorhamphinae; Astyanax.
OX NCBI_TaxID=7994 {ECO:0000313|Ensembl:ENSAMXP00000054347.1, ECO:0000313|Proteomes:UP000018467};
RN [1] {ECO:0000313|Proteomes:UP000018467}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=female {ECO:0000313|Proteomes:UP000018467};
RA Jeffery W., Warren W., Wilson R.K.;
RL Submitted (MAR-2013) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000313|Proteomes:UP000018467}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=female {ECO:0000313|Proteomes:UP000018467};
RX PubMed=25329095; DOI=10.1038/ncomms6307;
RA McGaugh S.E., Gross J.B., Aken B., Blin M., Borowsky R., Chalopin D.,
RA Hinaux H., Jeffery W.R., Keene A., Ma L., Minx P., Murphy D., O'Quin K.E.,
RA Retaux S., Rohner N., Searle S.M., Stahl B.A., Tabin C., Volff J.N.,
RA Yoshizawa M., Warren W.C.;
RT "The cavefish genome reveals candidate genes for eye loss.";
RL Nat. Commun. 5:5307-5307(2014).
RN [3] {ECO:0000313|Ensembl:ENSAMXP00000054347.1}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (AUG-2025) to UniProtKB.
RN [4] {ECO:0000313|Ensembl:ENSAMXP00000054347.1}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (SEP-2025) to UniProtKB.
CC -!- FUNCTION: Required for ciliogenesis. {ECO:0000256|PIRNR:PIRNR010072}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane
CC {ECO:0000256|ARBA:ARBA00004309, ECO:0000256|PIRNR:PIRNR010072}.
CC Cytoplasm, cytoskeleton, microtubule organizing center, centrosome,
CC centriolar satellite {ECO:0000256|ARBA:ARBA00004607}.
CC -!- SIMILARITY: Belongs to the BBS5 family. {ECO:0000256|ARBA:ARBA00005822,
CC ECO:0000256|PIRNR:PIRNR010072}.
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DR RefSeq; XP_049340811.1; XM_049484854.1.
DR AlphaFoldDB; A0A3B1KI13; -.
DR Ensembl; ENSAMXT00000034563.1; ENSAMXP00000054347.1; ENSAMXG00000005862.2.
DR GeneID; 103043779; -.
DR CTD; 129880; -.
DR GeneTree; ENSGT00390000002753; -.
DR Proteomes; UP000018467; Unassembled WGS sequence.
DR Bgee; ENSAMXG00000005862; Expressed in testis and 12 other cell types or tissues.
DR GO; GO:0034464; C:BBSome; IEA:UniProtKB-UniRule.
DR GO; GO:0034451; C:centriolar satellite; IEA:UniProtKB-SubCell.
DR GO; GO:0036064; C:ciliary basal body; IEA:TreeGrafter.
DR GO; GO:0060170; C:ciliary membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0032266; F:phosphatidylinositol-3-phosphate binding; IEA:TreeGrafter.
DR GO; GO:0060271; P:cilium assembly; IEA:TreeGrafter.
DR FunFam; 2.30.29.30:FF:000232; Bardet-Biedl syndrome 5 isoform 1; 1.
DR Gene3D; 2.30.29.30; Pleckstrin-homology domain (PH domain)/Phosphotyrosine-binding domain (PTB); 1.
DR InterPro; IPR006606; BBL5.
DR InterPro; IPR030804; BBS5/fem-3.
DR InterPro; IPR014003; BBS5_PH.
DR InterPro; IPR011993; PH-like_dom_sf.
DR PANTHER; PTHR21351:SF0; BARDET-BIEDL SYNDROME 5 PROTEIN; 1.
DR PANTHER; PTHR21351; BARDET-BIEDL SYNDROME PROTEIN 5; 1.
DR Pfam; PF07289; BBL5; 1.
DR PIRSF; PIRSF010072; DUF1448; 1.
DR SMART; SM00683; DM16; 2.
PE 3: Inferred from homology;
KW Cell membrane {ECO:0000256|ARBA:ARBA00022475,
KW ECO:0000256|PIRNR:PIRNR010072};
KW Cell projection {ECO:0000256|ARBA:ARBA00023273,
KW ECO:0000256|PIRNR:PIRNR010072};
KW Cilium {ECO:0000256|ARBA:ARBA00023069, ECO:0000256|PIRNR:PIRNR010072};
KW Cytoplasm {ECO:0000256|ARBA:ARBA00022490, ECO:0000256|PIRNR:PIRNR010072};
KW Cytoskeleton {ECO:0000256|ARBA:ARBA00023212,
KW ECO:0000256|PIRNR:PIRNR010072};
KW Membrane {ECO:0000256|ARBA:ARBA00023136, ECO:0000256|PIRNR:PIRNR010072};
KW Reference proteome {ECO:0000313|Proteomes:UP000018467}.
FT DOMAIN 29..83
FT /note="BBSome complex member BBS5 PH"
FT /evidence="ECO:0000259|SMART:SM00683"
FT DOMAIN 159..213
FT /note="BBSome complex member BBS5 PH"
FT /evidence="ECO:0000259|SMART:SM00683"
SQ SEQUENCE 334 AA; 38012 MW; 5B3816A004B01534 CRC64;
MAGVLDALWE DRDVRFDITA QQMKTRPGEV LIDCLDSIED TKGNNGDRGR LLVTNLRIIW
HSIALPRVNL SVGYNSVINI TTRTANSKLR GQTEALYILT KSNNTRFEFI FTNVVPGSPR
LFTSVIAVHR AYETSKMYRD LKLRGALIQN KQLRLLPREQ VYDKINGVWN LSSDQGNLGT
FFITNVRIVW HANMNESFNV SIPYLQIRSI RIRDSKFGLA LVIESSQQTG GYVLGFKIDP
MDKLQDAVKE INSLHKVYSA NPIFGVEYEM EEKPQPLEEL TVEQPPDDVE IEPDEQTDAF
TQQDREPVFS EELGLAVEKL KDGFTLQGLW EVMG
//