BBS2_DANRE
ID BBS2_DANRE Reviewed; 715 AA.
AC Q98SP7;
DT 02-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Bardet-Biedl syndrome 2 protein homolog;
GN Name=bbs2;
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 [MRNA].
RX PubMed=11285252; DOI=10.1093/hmg/10.8.865;
RA Nishimura D.Y., Searby C.C., Carmi R., Elbedour K., Van Maldergem L.,
RA Fulton A.B., Lam B.L., Powell B.R., Swiderski R.E., Bugge K.E.,
RA Haider N.B., Kwitek-Black A.E., Ying L., Duhl D.M., Gorman S.M., Heon E.,
RA Iannaccone A., Bonneau D., Biesecker L.G., Jacobson S.G., Stone E.M.,
RA Sheffield V.C.;
RT "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl
RT syndrome (BBS2).";
RL Hum. Mol. Genet. 10:865-874(2001).
CC -!- FUNCTION: Required for ciliogenesis. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250}.
CC Cytoplasm, cytoskeleton, microtubule organizing center, centrosome,
CC centriolar satellite {ECO:0000250}.
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DR EMBL; AF342739; AAK28555.1; -; mRNA.
DR RefSeq; NP_690843.1; NM_152887.1.
DR AlphaFoldDB; Q98SP7; -.
DR SMR; Q98SP7; -.
DR BioGRID; 79798; 1.
DR STRING; 7955.ENSDARP00000060999; -.
DR PaxDb; Q98SP7; -.
DR Ensembl; ENSDART00000061000; ENSDARP00000060999; ENSDARG00000041621.
DR Ensembl; ENSDART00000182692; ENSDARP00000145245; ENSDARG00000110124.
DR Ensembl; ENSDART00000191308; ENSDARP00000152776; ENSDARG00000041621.
DR GeneID; 259187; -.
DR KEGG; dre:259187; -.
DR CTD; 583; -.
DR ZFIN; ZDB-GENE-020801-1; bbs2.
DR eggNOG; ENOG502QPWU; Eukaryota.
DR GeneTree; ENSGT00390000017113; -.
DR HOGENOM; CLU_023359_0_0_1; -.
DR InParanoid; Q98SP7; -.
DR OMA; IKVDEYH; -.
DR OrthoDB; 327831at2759; -.
DR PhylomeDB; Q98SP7; -.
DR TreeFam; TF313236; -.
DR Reactome; R-DRE-5620922; BBSome-mediated cargo-targeting to cilium.
DR PRO; PR:Q98SP7; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 18.
DR Bgee; ENSDARG00000041621; Expressed in testis and 21 other tissues.
DR GO; GO:0034464; C:BBSome; IBA:GO_Central.
DR GO; GO:0036064; C:ciliary basal body; IBA:GO_Central.
DR GO; GO:0060170; C:ciliary membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0031514; C:motile cilium; IBA:GO_Central.
DR GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR GO; GO:0060271; P:cilium assembly; IMP:BHF-UCL.
DR GO; GO:0007368; P:determination of left/right symmetry; IGI:ZFIN.
DR GO; GO:0007369; P:gastrulation; IMP:ZFIN.
DR GO; GO:0046907; P:intracellular transport; IMP:ZFIN.
DR GO; GO:0070121; P:Kupffer's vesicle development; IMP:ZFIN.
DR GO; GO:0032402; P:melanosome transport; IMP:BHF-UCL.
DR GO; GO:1905515; P:non-motile cilium assembly; IEA:InterPro.
DR GO; GO:0051877; P:pigment granule aggregation in cell center; IMP:ZFIN.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR016616; Bardet-Biedl_syndrome_2_prot.
DR InterPro; IPR029333; BBS2_C.
DR InterPro; IPR029429; BBS2_Mid.
DR InterPro; IPR029430; BBS2_N.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR32465; PTHR32465; 1.
DR Pfam; PF14782; BBS2_C; 1.
DR Pfam; PF14783; BBS2_Mid; 1.
DR Pfam; PF14781; BBS2_N; 1.
DR PIRSF; PIRSF013684; BBS2; 1.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Cell projection; Cilium; Cytoplasm; Cytoskeleton; Membrane;
KW Reference proteome.
FT CHAIN 1..715
FT /note="Bardet-Biedl syndrome 2 protein homolog"
FT /id="PRO_0000064842"
SQ SEQUENCE 715 AA; 79126 MW; 326770AC45B36C90 CRC64;
MLVPIFTLKL NHKINPRMVA IGKYDGIHPC LTAATQAGKV FIHNPHTRAQ RPTAHRLSQS
TQDSDISLLN INQSVSCLTA GTLGPKSTGD TLLVGSQTNL LAYDVHDNTD VFYKEVTDGA
NAIVLGKLGD IQSPLAIIGG NCALQGFDYE GNDLFWTVTG DNVRSLVLCD FTADGKNELL
VGSEDFDIRV FKEDELVTEM AENETVTSLC HMHGSRFGYA LANGTVGVYD RTARYWRIKS
KNHAMSIHAF DLNADGVVEL ITGWSNGKID ARSDRTGEVI FKDNFSSSVA GVVEGDYRMD
GQIQLICTSV EGEVRGYLPA SKEMKGNLMD SSIEQDLIRE LSQRKQNLML ELRNYEENAK
ALPGLSEGES KMGVIPANTQ LQTALSVRRA SESQKAHIEL NISTPNETII RAVLIFAEGI
FEGESHVVHP SAQNLSGCVR VPIIPPKDIP VDLHIKAFVG GKTSTQFHVF EITRQLPRFS
MYDLNVDPSA PEPTGKVTFC INDRPQRVVM WLNQNFLLPE GIDSPDVTFS ALRGGGLLRI
SLQTSGEITL RTDDIDLAGD LVQSLASFLA IEDLQAESDF PVYFKELRAT LTEVDEFHSV
HQKLTAAMAD HSNYIRNMLV QAEDARLMGD WRNMKKRYIE LYDLNRDLVN EYKIRSNNHN
ALLARLKSVN QAIQRAGRLR VGKPKSQVIT ACRDAIKNNN INALFKIMRA GTTSS