BBS5_MACFA
ID BBS5_MACFA Reviewed; 341 AA.
AC Q4R649;
DT 07-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT 07-FEB-2006, sequence version 2.
DT 25-MAY-2022, entry version 70.
DE RecName: Full=Bardet-Biedl syndrome 5 protein homolog;
GN Name=BBS5; ORFNames=QtsA-19140;
OS Macaca fascicularis (Crab-eating macaque) (Cynomolgus monkey).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini;
OC Cercopithecidae; Cercopithecinae; Macaca.
OX NCBI_TaxID=9541;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-341.
RC TISSUE=Testis;
RG International consortium for macaque cDNA sequencing and analysis;
RT "DNA sequences of macaque genes expressed in brain or testis and its
RT evolutionary implications.";
RL Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: The BBSome complex is thought to function as a coat complex
CC required for sorting of specific membrane proteins to the primary
CC cilia. The BBSome complex is required for ciliogenesis but is
CC dispensable for centriolar satellite function. This ciliogenic function
CC is mediated in part by the Rab8 GDP/GTP exchange factor, which
CC localizes to the basal body and contacts the BBSome. Rab8(GTP) enters
CC the primary cilium and promotes extension of the ciliary membrane.
CC Firstly the BBSome associates with the ciliary membrane and binds to
CC RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the
CC Rab8-GTP localizes to the cilium and promotes docking and fusion of
CC carrier vesicles to the base of the ciliary membrane. The BBSome
CC complex, together with the LTZL1, controls SMO ciliary trafficking and
CC contributes to the sonic hedgehog (SHH) pathway regulation. Required
CC for BBSome complex ciliary localization but not for the proper complex
CC assembly (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5,
CC BBS7, BBS8/TTC8, BBS9 and BBIP10 (By similarity). Binds to
CC phosphoinositides (By similarity). Interacts with CCDC28B. Interacts
CC with SMO; the interaction is indicative for the association of SMO with
CC the BBsome complex to facilitate ciliary localization of SMO (By
CC similarity). Interacts with PKD1 (By similarity). Interacts with DLEC1
CC (By similarity). {ECO:0000250|UniProtKB:Q8N3I7}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250}.
CC Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center,
CC centrosome, centriolar satellite {ECO:0000250}. Note=Localizes to basal
CC bodies.
CC -!- SIMILARITY: Belongs to the BBS5 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAE01426.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB169341; BAE01426.1; ALT_INIT; mRNA.
DR RefSeq; NP_001270514.1; NM_001283585.1.
DR RefSeq; XP_015287559.1; XM_015432073.1.
DR RefSeq; XP_015287560.1; XM_015432074.1.
DR AlphaFoldDB; Q4R649; -.
DR SMR; Q4R649; -.
DR STRING; 9541.XP_005573459.1; -.
DR GeneID; 101865542; -.
DR KEGG; mcf:101865542; -.
DR CTD; 129880; -.
DR VEuPathDB; HostDB:ENSMFAG00000040347; -.
DR eggNOG; ENOG502QR2Z; Eukaryota.
DR OMA; PNFGIQY; -.
DR OrthoDB; 1257336at2759; -.
DR Proteomes; UP000233100; Chromosome 12.
DR GO; GO:0034464; C:BBSome; IEA:InterPro.
DR GO; GO:0060170; C:ciliary membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005815; C:microtubule organizing center; IEA:UniProtKB-SubCell.
DR GO; GO:0030030; P:cell projection organization; IEA:UniProtKB-KW.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR006606; BBL5.
DR InterPro; IPR030804; BBS5/fem-3.
DR InterPro; IPR014003; DM16_repeat.
DR InterPro; IPR011993; PH-like_dom_sf.
DR PANTHER; PTHR21351; PTHR21351; 1.
DR Pfam; PF07289; BBL5; 1.
DR PIRSF; PIRSF010072; DUF1448; 1.
DR SMART; SM00683; DM16; 2.
PE 2: Evidence at transcript level;
KW Cell membrane; Cell projection; Cilium; Cilium biogenesis/degradation;
KW Cytoplasm; Cytoskeleton; Membrane; Protein transport; Reference proteome;
KW Transport.
FT CHAIN 1..341
FT /note="Bardet-Biedl syndrome 5 protein homolog"
FT /id="PRO_0000223255"
SQ SEQUENCE 341 AA; 38829 MW; 81531C4B1E39BB6D CRC64;
MSVLDALWED RDVRFDLSSQ QMKTRPGEVL IDCLDSIEDT KGNNGDRGRL LVTNLRILWH
SLALSRVNVS VGYNCILNIT TRTANSKLRG QTEALYILTK CNSTRFEFIF TNLVPGSPRL
FTSVMAVHRA YETSKMYRDF KLRSALIQNK QLRLLPQEHV YDKINGVWNL SSDQGNLGTF
FITNVRIVWH ANMNDSFNVS IPYLQIRSIK IRDSKFGLAL VIESSQQSGG YVLGFKIDPV
EKLQESVKEI NSLHKVYSAS PIFGVDYEME EKPQPLEALT VEQIQDDVEI DSDDHTDAFV
AYFADGNKQQ DREPVFSEEL GLAIEKLKDG FTLQGLWEVM S