BBS12_MOUSE
ID BBS12_MOUSE Reviewed; 708 AA.
AC Q5SUD9; A2AGT2;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-SEP-2007, sequence version 2.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=Bardet-Biedl syndrome 12 protein homolog;
GN Name=Bbs12; Synonyms=Gm1805;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
CC -!- FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a
CC molecular chaperone complex that assists the folding of proteins upon
CC ATP hydrolysis. As part of the TRiC complex may play a role in the
CC assembly of BBSome, a complex involved in ciliogenesis regulating
CC transports vesicles to the cilia. Involved in adipogenic
CC differentiation. {ECO:0000250|UniProtKB:Q6ZW61}.
CC -!- SUBUNIT: Component of the chaperonin-containing T-complex (TRiC), a
CC heterooligomeric complex of about 850 to 900 kDa that forms two stacked
CC rings, 12 to 16 nm in diameter. Interacts with MKKS.
CC {ECO:0000250|UniProtKB:Q6ZW61}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q6ZW61}. Note=Located within the basal body of
CC the primary cilium of differentiating preadipocytes.
CC {ECO:0000250|UniProtKB:Q6ZW61}.
CC -!- SIMILARITY: Belongs to the TCP-1 chaperonin family. BBS12 subfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAI26237.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAM14822.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL645982; CAI26237.1; ALT_INIT; Genomic_DNA.
DR EMBL; AL691478; CAM14822.1; ALT_INIT; Genomic_DNA.
DR CCDS; CCDS38417.1; -.
DR RefSeq; NP_001008502.2; NM_001008502.2.
DR RefSeq; XP_006535543.1; XM_006535480.1.
DR RefSeq; XP_011247984.1; XM_011249682.1.
DR RefSeq; XP_011247985.1; XM_011249683.1.
DR AlphaFoldDB; Q5SUD9; -.
DR STRING; 10090.ENSMUSP00000052179; -.
DR iPTMnet; Q5SUD9; -.
DR PhosphoSitePlus; Q5SUD9; -.
DR PaxDb; Q5SUD9; -.
DR PRIDE; Q5SUD9; -.
DR ProteomicsDB; 273546; -.
DR Antibodypedia; 26856; 44 antibodies from 14 providers.
DR DNASU; 241950; -.
DR Ensembl; ENSMUST00000057975; ENSMUSP00000052179; ENSMUSG00000051444.
DR GeneID; 241950; -.
DR KEGG; mmu:241950; -.
DR UCSC; uc008pan.2; mouse.
DR CTD; 166379; -.
DR MGI; MGI:2686651; Bbs12.
DR VEuPathDB; HostDB:ENSMUSG00000051444; -.
DR eggNOG; ENOG502QUYD; Eukaryota.
DR GeneTree; ENSGT00390000008984; -.
DR HOGENOM; CLU_025269_0_0_1; -.
DR InParanoid; Q5SUD9; -.
DR OMA; TYRHLGF; -.
DR OrthoDB; 429087at2759; -.
DR PhylomeDB; Q5SUD9; -.
DR TreeFam; TF330844; -.
DR Reactome; R-MMU-5620922; BBSome-mediated cargo-targeting to cilium.
DR BioGRID-ORCS; 241950; 4 hits in 73 CRISPR screens.
DR PRO; PR:Q5SUD9; -.
DR Proteomes; UP000000589; Chromosome 3.
DR RNAct; Q5SUD9; protein.
DR Bgee; ENSMUSG00000051444; Expressed in metanephric proximal tubule and 168 other tissues.
DR ExpressionAtlas; Q5SUD9; baseline and differential.
DR Genevisible; Q5SUD9; MM.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0005524; F:ATP binding; IEA:InterPro.
DR GO; GO:0051131; P:chaperone-mediated protein complex assembly; ISO:MGI.
DR GO; GO:0042755; P:eating behavior; IMP:MGI.
DR GO; GO:0045444; P:fat cell differentiation; IMP:MGI.
DR GO; GO:0042073; P:intraciliary transport; IMP:MGI.
DR GO; GO:0045599; P:negative regulation of fat cell differentiation; IMP:MGI.
DR GO; GO:2000737; P:negative regulation of stem cell differentiation; IMP:MGI.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:MGI.
DR GO; GO:0048863; P:stem cell differentiation; IMP:MGI.
DR Gene3D; 1.10.560.10; -; 2.
DR Gene3D; 3.30.260.10; -; 1.
DR Gene3D; 3.50.7.10; -; 1.
DR InterPro; IPR042984; BBS12.
DR InterPro; IPR002423; Cpn60/GroEL/TCP-1.
DR InterPro; IPR027409; GroEL-like_apical_dom_sf.
DR InterPro; IPR027413; GROEL-like_equatorial_sf.
DR InterPro; IPR027410; TCP-1-like_intermed_sf.
DR PANTHER; PTHR46883; PTHR46883; 1.
DR Pfam; PF00118; Cpn60_TCP1; 1.
DR SUPFAM; SSF48592; SSF48592; 1.
DR SUPFAM; SSF52029; SSF52029; 1.
PE 3: Inferred from homology;
KW Cell projection; Cilium; Reference proteome.
FT CHAIN 1..708
FT /note="Bardet-Biedl syndrome 12 protein homolog"
FT /id="PRO_0000301982"
FT CONFLICT 136
FT /note="N -> S (in Ref. 1; CAI26237)"
FT /evidence="ECO:0000305"
FT CONFLICT 174
FT /note="R -> H (in Ref. 1; CAI26237)"
FT /evidence="ECO:0000305"
FT CONFLICT 262
FT /note="V -> I (in Ref. 1; CAI26237)"
FT /evidence="ECO:0000305"
FT CONFLICT 425
FT /note="K -> R (in Ref. 1; CAI26237)"
FT /evidence="ECO:0000305"
FT CONFLICT 588
FT /note="S -> C (in Ref. 1; CAI26237)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 708 AA; 78335 MW; 31FDD3875222EEAF CRC64;
MEMACRVINR RRHVGLQQLL SFAQTGRSFL GPVKATKFIT DAECHESVLI SSTVRLLEGL
DLTCAVGHLL NEAVQAQNNT YKIGTSTLLF LVGAWSRAVE DCLHLGIPTT VIVSVMSEGL
NSCIEAVVSL QVPIHNVFDH MDNTSTVYKL ETVNATLCPF LQDPSGSGLL QEKRDFKDAT
SPLLSTYSLS GRHAESPKFF KPQNNLETEK NTLQVLKNNL YTDSFCKKSA LAHSRHFNRT
DNSHWISRHD GFLEQLESTP KVLRCNDFGE LAVGLSHGDH SSMALAKAAV RLQWQSLCLQ
QANWMAPFMF DISRLLTCCI PGLPETFSRV GLGYVTFVTM SSITLIKELQ DQPFRVILIE
GDLTESYRHL GFNKSVNIKT KLDSGELSED SAEELWTNHV LQVLIQFNVT LILVQGSVSE
HLTEKCMHSK RLVIGAVNGS VLQAFAEATR AVPVAYVTQV NEDCVGSGVS VTFWMSPHDI
NRSNRIAILL TAEGINLITA VLTSPASAQM ETKEDRFWSC VYRLYHALKE EKVFLGGGAV
EFLCLSHLQI LAEQSLNRGN HACLGWLPDS SSWMASSLSV YRPTVLKSLA GGWHEFLSAI
MCNTATHPSA VEARTFIQQH VQNAIDSGSP SSYILSEYSK LSSGVFHSGI SDNLELVPRV
YDTVTPKIEA WRRALDVVLL VLQTDSEIIT GLVHTEMNSQ ELDGVLFL
