ID BBS12_HUMAN Reviewed; 710 AA. AC Q6ZW61; D3DNX5; Q7Z342; Q7Z482; Q8NAB8; DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot. DT 18-MAY-2010, sequence version 2. DT 24-JAN-2024, entry version 156. DE RecName: Full=Bardet-Biedl syndrome 12 protein; GN Name=BBS12; Synonyms=C4orf24; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLN-386 AND ASN-467. RC TISSUE=Spleen, and Tongue; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., RA Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-386. RC TISSUE=Fetal kidney; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., RA Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15815621; DOI=10.1038/nature03466; RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., RA Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 and RT 4."; RL Nature 434:724-731(2005). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLN-386. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ARG-195; GLN-386; RP ASN-467 AND VAL-615. RC TISSUE=Brain; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP FUNCTION, AND SUBCELLULAR LOCATION. RX PubMed=19190184; DOI=10.1073/pnas.0812518106; RA Marion V., Stoetzel C., Schlicht D., Messaddeq N., Koch M., Flori E., RA Danse J.M., Mandel J.-L., Dollfus H.; RT "Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a RT fundamental characteristic of adipogenic differentiation."; RL Proc. Natl. Acad. Sci. U.S.A. 106:1820-1825(2009). RN [7] RP FUNCTION, IDENTIFICATION IN THE CHAPERONIN-CONTAINING T-COMPLEX, AND RP CHARACTERIZATION OF VARIANTS BBS12 VAL-113 DEL; LEU-159; PRO-289; THR-346; RP MET-501 AND VAL-540. RX PubMed=20080638; DOI=10.1073/pnas.0910268107; RA Seo S., Baye L.M., Schulz N.P., Beck J.S., Zhang Q., Slusarski D.C., RA Sheffield V.C.; RT "BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and RT mediate BBSome assembly."; RL Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010). RN [8] RP INTERACTION WITH MKKS. RX PubMed=26900326; RA Hulleman J.D., Nguyen A., Ramprasad V.L., Murugan S., Gupta R., RA Mahindrakar A., Angara R., Sankurathri C., Mootha V.V.; RT "A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and RT polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman RT syndrome."; RL Mol. Vis. 22:73-81(2016). RN [9] RP VARIANTS BBS12 VAL-113 DEL; LEU-159; PRO-289; THR-346; MET-501 AND VAL-540, RP AND VARIANTS THR-39 AND VAL-170. RX PubMed=17160889; DOI=10.1086/510256; RA Stoetzel C., Muller J., Laurier V., Davis E.E., Zaghloul N.A., Vicaire S., RA Jacquelin C., Plewniak F., Leitch C.C., Sarda P., Hamel C., de Ravel T.J., RA Lewis R.A., Friederich E., Thibault C., Danse J.-M., Verloes A., RA Bonneau D., Katsanis N., Poch O., Mandel J.-L., Dollfus H.; RT "Identification of a novel BBS gene (BBS12) highlights the major role of a RT vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl RT syndrome."; RL Am. J. Hum. Genet. 80:1-11(2007). RN [10] RP VARIANT BBS12 511-GLN--GLN-513 DEL, AND VARIANTS THR-39; ARG-408 AND RP CYS-524. RX PubMed=20120035; DOI=10.1002/humu.21204; RA Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Riise R., RA Sheffield V.C., Rosenberg T., Brondum-Nielsen K.; RT "Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations RT in six genes."; RL Hum. Mutat. 31:429-436(2010). RN [11] RP VARIANTS THR-39; SER-119 AND HIS-263, AND VARIANTS BBS12 ARG-88; GLU-293; RP GLN-355; MET-400; MET-501; HIS-525; ASP-539 AND CYS-674. RX PubMed=21344540; DOI=10.1002/humu.21480; RA Deveault C., Billingsley G., Duncan J.L., Bin J., Theal R., Vincent A., RA Fieggen K.J., Gerth C., Noordeh N., Traboulsi E.I., Fishman G.A., RA Chitayat D., Knueppel T., Millan J.M., Munier F.L., Kennedy D., RA Jacobson S.G., Innes A.M., Mitchell G.A., Boycott K., Heon E.; RT "BBS genotype-phenotype assessment of a multiethnic patient cohort calls RT for a revision of the disease definition."; RL Hum. Mutat. 32:610-619(2011). 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 (PubMed:20080638). Involved in CC adipogenic differentiation (PubMed:19190184). CC {ECO:0000269|PubMed:19190184, ECO:0000269|PubMed:20080638}. 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 (PubMed:20080638). Interacts with MKKS CC (PubMed:26900326). {ECO:0000269|PubMed:20080638, CC ECO:0000269|PubMed:26900326}. CC -!- INTERACTION: CC Q6ZW61; Q8TAM1: BBS10; NbExp=5; IntAct=EBI-6128352, EBI-6128013; CC Q6ZW61; Q9BXC9: BBS2; NbExp=2; IntAct=EBI-6128352, EBI-748297; CC Q6ZW61; Q8IWZ6: BBS7; NbExp=7; IntAct=EBI-6128352, EBI-1806001; CC Q6ZW61; Q3SYG4: BBS9; NbExp=2; IntAct=EBI-6128352, EBI-2826852; CC Q6ZW61; Q9NPJ1: MKKS; NbExp=14; IntAct=EBI-6128352, EBI-721319; CC -!- SUBCELLULAR LOCATION: Cell projection, cilium CC {ECO:0000269|PubMed:19190184}. Note=Located within the basal body of CC the primary cilium of differentiating preadipocytes. CC {ECO:0000269|PubMed:19190184}. CC -!- DISEASE: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]: A syndrome CC characterized by usually severe pigmentary retinopathy, early-onset CC obesity, polydactyly, hypogenitalism, renal malformation and CC intellectual disability. Secondary features include diabetes mellitus, CC hypertension and congenital heart disease. Bardet-Biedl syndrome CC inheritance is autosomal recessive, but three mutated alleles (two at CC one locus, and a third at a second locus) may be required for clinical CC manifestation of some forms of the disease. CC {ECO:0000269|PubMed:17160889, ECO:0000269|PubMed:20080638, CC ECO:0000269|PubMed:20120035, ECO:0000269|PubMed:21344540}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- MISCELLANEOUS: Adipocytes derived from BBS-patients' dermal fibroblasts CC in culture exhibit higher propensity for fat accumulation when compared CC to controls. This strongly suggests that a peripheral primary CC dysfunction of adipogenesis participates in the pathogenesis of obesity CC in BBS. CC -!- SIMILARITY: Belongs to the TCP-1 chaperonin family. BBS12 subfamily. CC {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAC04006.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AK092949; BAC04006.1; ALT_INIT; mRNA. DR EMBL; AK123553; BAC85644.1; -; mRNA. DR EMBL; BX538148; CAD98035.1; -; mRNA. DR EMBL; AC053545; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471056; EAX05223.1; -; Genomic_DNA. DR EMBL; CH471056; EAX05224.1; -; Genomic_DNA. DR EMBL; BC055426; AAH55426.1; -; mRNA. DR CCDS; CCDS3728.1; -. DR RefSeq; NP_001171478.1; NM_001178007.1. DR RefSeq; NP_689831.2; NM_152618.2. DR RefSeq; XP_011529982.1; XM_011531680.2. DR RefSeq; XP_016863320.1; XM_017007831.1. DR AlphaFoldDB; Q6ZW61; -. DR BioGRID; 127928; 11. DR CORUM; Q6ZW61; -. DR DIP; DIP-60348N; -. DR IntAct; Q6ZW61; 9. DR STRING; 9606.ENSP00000438273; -. DR iPTMnet; Q6ZW61; -. DR PhosphoSitePlus; Q6ZW61; -. DR BioMuta; BBS12; -. DR DMDM; 296434408; -. DR MassIVE; Q6ZW61; -. DR PaxDb; 9606-ENSP00000438273; -. DR PeptideAtlas; Q6ZW61; -. DR ProteomicsDB; 68466; -. DR Antibodypedia; 26856; 52 antibodies from 14 providers. DR DNASU; 166379; -. DR Ensembl; ENST00000314218.8; ENSP00000319062.3; ENSG00000181004.10. DR Ensembl; ENST00000542236.5; ENSP00000438273.1; ENSG00000181004.10. DR GeneID; 166379; -. DR KEGG; hsa:166379; -. DR MANE-Select; ENST00000314218.8; ENSP00000319062.3; NM_152618.3; NP_689831.2. DR UCSC; uc003ieu.3; human. DR AGR; HGNC:26648; -. DR CTD; 166379; -. DR DisGeNET; 166379; -. DR GeneCards; BBS12; -. DR GeneReviews; BBS12; -. DR HGNC; HGNC:26648; BBS12. DR HPA; ENSG00000181004; Tissue enhanced (retina). DR MalaCards; BBS12; -. DR MIM; 610683; gene. DR MIM; 615989; phenotype. DR neXtProt; NX_Q6ZW61; -. DR OpenTargets; ENSG00000181004; -. DR Orphanet; 110; Bardet-Biedl syndrome. DR PharmGKB; PA162377350; -. DR VEuPathDB; HostDB:ENSG00000181004; -. DR eggNOG; ENOG502QUYD; Eukaryota. DR GeneTree; ENSGT00390000008984; -. DR HOGENOM; CLU_025269_0_0_1; -. DR InParanoid; Q6ZW61; -. DR OMA; TYRHLGF; -. DR OrthoDB; 2918934at2759; -. DR PhylomeDB; Q6ZW61; -. DR TreeFam; TF330844; -. DR PathwayCommons; Q6ZW61; -. DR Reactome; R-HSA-5620922; BBSome-mediated cargo-targeting to cilium. DR SignaLink; Q6ZW61; -. DR BioGRID-ORCS; 166379; 12 hits in 1157 CRISPR screens. DR ChiTaRS; BBS12; human. DR GeneWiki; BBS12; -. DR GenomeRNAi; 166379; -. DR Pharos; Q6ZW61; Tbio. DR PRO; PR:Q6ZW61; -. DR Proteomes; UP000005640; Chromosome 4. DR RNAct; Q6ZW61; Protein. DR Bgee; ENSG00000181004; Expressed in primordial germ cell in gonad and 141 other cell types or tissues. DR ExpressionAtlas; Q6ZW61; baseline and differential. 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; IMP:MGI. DR GO; GO:0042755; P:eating behavior; IEA:Ensembl. DR GO; GO:0045444; P:fat cell differentiation; IEA:Ensembl. DR GO; GO:0042073; P:intraciliary transport; IEA:Ensembl. DR GO; GO:0045599; P:negative regulation of fat cell differentiation; IMP:MGI. DR GO; GO:2000737; P:negative regulation of stem cell differentiation; IEA:Ensembl. DR GO; GO:0045494; P:photoreceptor cell maintenance; IBA:GO_Central. DR GO; GO:0048863; P:stem cell differentiation; IEA:Ensembl. DR Gene3D; 3.50.7.10; GroEL; 1. DR Gene3D; 1.10.560.10; GroEL-like equatorial domain; 2. DR Gene3D; 3.30.260.10; TCP-1-like chaperonin intermediate domain; 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; BARDET-BIEDL SYNDROME 12 PROTEIN; 1. DR PANTHER; PTHR46883:SF1; BARDET-BIEDL SYNDROME 12 PROTEIN; 1. DR Pfam; PF00118; Cpn60_TCP1; 1. DR SUPFAM; SSF52029; GroEL apical domain-like; 1. DR SUPFAM; SSF48592; GroEL equatorial domain-like; 1. DR Genevisible; Q6ZW61; HS. PE 1: Evidence at protein level; KW Bardet-Biedl syndrome; Cell projection; Ciliopathy; Cilium; KW Disease variant; Intellectual disability; Obesity; Reference proteome. FT CHAIN 1..710 FT /note="Bardet-Biedl syndrome 12 protein" FT /id="PRO_0000301981" FT VARIANT 39 FT /note="I -> T (in dbSNP:rs138036823)" FT /evidence="ECO:0000269|PubMed:17160889, FT ECO:0000269|PubMed:20120035, ECO:0000269|PubMed:21344540" FT /id="VAR_034919" FT VARIANT 88 FT /note="L -> R (in BBS12; dbSNP:rs746271266)" FT /evidence="ECO:0000269|PubMed:21344540" FT /id="VAR_066266" FT VARIANT 113 FT /note="Missing (in BBS12; significantly reduces the FT interaction with MKKS; shows significantly decreased FT interaction with BBS7; the interaction with BBS10 is not FT affected by this mutation)" FT /evidence="ECO:0000269|PubMed:17160889, FT ECO:0000269|PubMed:20080638" FT /id="VAR_034920" FT VARIANT 119 FT /note="G -> S (associated with H-263 in a patient with FT Bardet-Biedl syndrome compound heterozygote for mutations FT in BBS10; dbSNP:rs77731085)" FT /evidence="ECO:0000269|PubMed:21344540" FT /id="VAR_066267" FT VARIANT 126 FT /note="E -> D (in dbSNP:rs309369)" FT /id="VAR_034921" FT VARIANT 159 FT /note="P -> L (in BBS12; uncertain significance; FT significantly reduces the interaction with MKKS; the FT interaction with BBS10 is not affected by this mutation; FT dbSNP:rs1450190654)" FT /evidence="ECO:0000269|PubMed:17160889, FT ECO:0000269|PubMed:20080638" FT /id="VAR_034922" FT VARIANT 170 FT /note="I -> V (in dbSNP:rs1218692709)" FT /evidence="ECO:0000269|PubMed:17160889" FT /id="VAR_034923" FT VARIANT 195 FT /note="K -> R (in dbSNP:rs17854892)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_034924" FT VARIANT 238 FT /note="N -> K (in dbSNP:rs17006082)" FT /id="VAR_034925" FT VARIANT 263 FT /note="Y -> H (associated with S-119 in a patient with FT Bardet-Biedl syndrome compound heterozygote for mutations FT in BBS10; dbSNP:rs150040166)" FT /evidence="ECO:0000269|PubMed:21344540" FT /id="VAR_066268" FT VARIANT 289 FT /note="A -> P (in BBS12; significantly reduces the FT interaction with MKKS; shows significantly decreased FT interaction with BBS7; the interaction with BBS10 is not FT affected by this mutation; dbSNP:rs121918328)" FT /evidence="ECO:0000269|PubMed:17160889, FT ECO:0000269|PubMed:20080638" FT /id="VAR_034926" FT VARIANT 293 FT /note="Q -> E (in BBS12)" FT /evidence="ECO:0000269|PubMed:21344540" FT /id="VAR_066269" FT VARIANT 346 FT /note="I -> T (in BBS12; significantly reduces the FT interaction with MKKS; shows significantly decreased FT interaction with BBS7; the interaction with BBS10 is not FT affected by this mutation; dbSNP:rs1553941373)" FT /evidence="ECO:0000269|PubMed:17160889, FT ECO:0000269|PubMed:20080638" FT /id="VAR_062964" FT VARIANT 355 FT /note="R -> Q (in BBS12; dbSNP:rs1474900361)" FT /evidence="ECO:0000269|PubMed:21344540" FT /id="VAR_066270" FT VARIANT 386 FT /note="R -> Q (in dbSNP:rs309370)" FT /evidence="ECO:0000269|PubMed:14702039, FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, FT ECO:0000269|Ref.4" FT /id="VAR_034927" FT VARIANT 400 FT /note="V -> M (in BBS12; dbSNP:rs771136797)" FT /evidence="ECO:0000269|PubMed:21344540" FT /id="VAR_066271" FT VARIANT 408 FT /note="K -> R (in a patient with Bardet-Biedl syndrome FT compound heterozygote for BBS2 mutations; uncertain FT significance)" FT /evidence="ECO:0000269|PubMed:20120035" FT /id="VAR_066272" FT VARIANT 429 FT /note="S -> T (in dbSNP:rs7665271)" FT /id="VAR_034928" FT VARIANT 461 FT /note="N -> H (in dbSNP:rs10027479)" FT /id="VAR_034929" FT VARIANT 467 FT /note="D -> N (in dbSNP:rs13135778)" FT /evidence="ECO:0000269|PubMed:14702039, FT ECO:0000269|PubMed:15489334" FT /id="VAR_034930" FT VARIANT 484 FT /note="R -> K (in dbSNP:rs35690634)" FT /id="VAR_034931" FT VARIANT 501 FT /note="T -> M (in BBS12; significantly reduces the FT interaction with MKKS; shows significantly decreased FT interaction with BBS7; the interaction with BBS10 is not FT affected by this mutation; dbSNP:rs138011813)" FT /evidence="ECO:0000269|PubMed:17160889, FT ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:21344540" FT /id="VAR_062965" FT VARIANT 511..513 FT /note="Missing (in BBS12)" FT /evidence="ECO:0000269|PubMed:20120035" FT /id="VAR_066273" FT VARIANT 524 FT /note="Y -> C (in a patient with Bardet-Biedl syndrome FT homozygous for a mutation in BBS2; uncertain significance; FT dbSNP:rs770746493)" FT /evidence="ECO:0000269|PubMed:20120035" FT /id="VAR_066274" FT VARIANT 525 FT /note="R -> H (in BBS12; uncertain significance; FT dbSNP:rs776730549)" FT /evidence="ECO:0000269|PubMed:21344540" FT /id="VAR_066275" FT VARIANT 539 FT /note="G -> D (in BBS12)" FT /evidence="ECO:0000269|PubMed:21344540" FT /id="VAR_066276" FT VARIANT 540 FT /note="G -> V (in BBS12; significantly reduces the FT interaction with MKKS; shows significantly decreased FT interaction with BBS7; the interaction with BBS10 is not FT affected by this mutation; dbSNP:rs1010403072)" FT /evidence="ECO:0000269|PubMed:17160889, FT ECO:0000269|PubMed:20080638" FT /id="VAR_034932" FT VARIANT 615 FT /note="A -> V (in dbSNP:rs17857451)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_034933" FT VARIANT 674 FT /note="R -> C (in BBS12; dbSNP:rs759088490)" FT /evidence="ECO:0000269|PubMed:21344540" FT /id="VAR_066277" FT CONFLICT 462 FT /note="E -> G (in Ref. 2; CAD98035)" FT /evidence="ECO:0000305" FT CONFLICT 597 FT /note="K -> R (in Ref. 1; BAC04006)" FT /evidence="ECO:0000305" SQ SEQUENCE 710 AA; 79085 MW; F441A12526A23B40 CRC64; MVMACRVVNK RRHMGLQQLS SFAETGRTFL GPLKSSKFII DEECHESVLI SSTVRLLESL DLTSAVGQLL NEAVQAQNNT YRTGISTLLF LVGAWSSAVE ECLHLGVPIS IIVSVMSEGL NFCSEEVVSL HVPVHNIFDC MDSTKTFSQL ETFSVSLCPF LQVPSDTDLI EELHGLKDVA SQTLTISNLS GRPLKSYELF KPQTKVEADN NTSRTLKNSL LADTCCRQSI LIHSRHFNRT DNTEGVSKPD GFQEHVTATH KTYRCNDLVE LAVGLSHGDH SSMKLVEEAV QLQYQNACVQ QGNCTKPFMF DISRIFTCCL PGLPETSSCV CPGYITVVSV SNNPVIKELQ NQPVRIVLIE GDLTENYRHL GFNKSANIKT VLDSMRLQED SSEELWANHV LQVLIQFKVN LVLVQGNVSE RLIEKCINSK RLVIGSVNGS VMQAFAEAAG AVQVAYITQV NEDCVGDGVC VTFWRSSPLD VVDRNNRIAI LLKTEGINLV TAVLTNPVTA QMQIKEDRFW TCAYRLYYAL KEEKVFLGGG AVEFLCLSCL HILAEQSLKK ENHACSGWLH NTSSWLASSL AIYRPTVLKF LANGWQKYLS TLLYNTANYS SEFEASTYIQ HHLQNATDSG SPSSYILNEY SKLNSRIFNS DISNKLEQIP RVYDVVTPKI EAWRRALDLV LLVLQTDSEI ITGHGHTQIN SQELTGFLFL //