BBS12_HUMAN
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 03-AUG-2022, entry version 150.
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=4; IntAct=EBI-6128352, EBI-6128013;
CC Q6ZW61; Q8IWZ6: BBS7; NbExp=8; 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};
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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; 15.
DR STRING; 9606.ENSP00000438273; -.
DR iPTMnet; Q6ZW61; -.
DR PhosphoSitePlus; Q6ZW61; -.
DR BioMuta; BBS12; -.
DR DMDM; 296434408; -.
DR MassIVE; Q6ZW61; -.
DR PaxDb; Q6ZW61; -.
DR PeptideAtlas; Q6ZW61; -.
DR PRIDE; Q6ZW61; -.
DR ProteomicsDB; 68466; -.
DR Antibodypedia; 26856; 44 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 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; 429087at2759; -.
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; 10 hits in 1077 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 sperm and 140 other tissues.
DR ExpressionAtlas; Q6ZW61; baseline and differential.
DR Genevisible; Q6ZW61; HS.
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; 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 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; unknown pathological 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; unknown
FT pathological 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; unknown pathological
FT significance; dbSNP:rs770746493)"
FT /evidence="ECO:0000269|PubMed:20120035"
FT /id="VAR_066274"
FT VARIANT 525
FT /note="R -> H (in BBS12; unknown pathological 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
