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Q6ZW61 (BBS12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Bardet-Biedl syndrome 12 protein
Gene names
Name:BBS12
Synonyms:C4orf24
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length710 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation. Ref.6 Ref.7

Subunit structure

Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. Ref.7

Subcellular location

Cell projectioncilium. Note: Located within the basal body of the primary cilium of differentiating preadipocytes. Ref.6

Involvement in disease

Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8 Ref.9 Ref.10

Miscellaneous

Adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fat accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS.

Sequence similarities

Belongs to the TCP-1 chaperonin family. BBS12 subfamily.

Sequence caution

The sequence BAC04006.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 710710Bardet-Biedl syndrome 12 protein
PRO_0000301981

Natural variations

Natural variant391I → T. Ref.8 Ref.9 Ref.10
Corresponds to variant rs138036823 [ dbSNP | Ensembl ].
VAR_034919
Natural variant881L → R in BBS12. Ref.10
VAR_066266
Natural variant1131Missing in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. Ref.7 Ref.8
VAR_034920
Natural variant1191G → S Associated with H-263 in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10. Ref.10
Corresponds to variant rs77731085 [ dbSNP | Ensembl ].
VAR_066267
Natural variant1261E → D.
Corresponds to variant rs309369 [ dbSNP | Ensembl ].
VAR_034921
Natural variant1591P → L in BBS12; pathogenicity uncertain; significantly reduces the interaction with MKKS; the interaction with BBS10 is not affected by this mutation. Ref.7 Ref.8
VAR_034922
Natural variant1701I → V. Ref.8
VAR_034923
Natural variant1951K → R. Ref.5
Corresponds to variant rs17854892 [ dbSNP | Ensembl ].
VAR_034924
Natural variant2381N → K.
Corresponds to variant rs17006082 [ dbSNP | Ensembl ].
VAR_034925
Natural variant2631Y → H Associated with S-119 in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10. Ref.10
Corresponds to variant rs150040166 [ dbSNP | Ensembl ].
VAR_066268
Natural variant2891A → P in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. Ref.7 Ref.8
VAR_034926
Natural variant2931Q → E in BBS12. Ref.10
VAR_066269
Natural variant3461I → T in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. Ref.7 Ref.8
VAR_062964
Natural variant3551R → Q in BBS12. Ref.10
VAR_066270
Natural variant3861R → Q. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs309370 [ dbSNP | Ensembl ].
VAR_034927
Natural variant4001V → M in BBS12. Ref.10
VAR_066271
Natural variant4081K → R in a patient with Bardet-Biedl syndrome compound heterozygote for BBS2 mutations; uncertain pathological role. Ref.9
VAR_066272
Natural variant4291S → T.
Corresponds to variant rs7665271 [ dbSNP | Ensembl ].
VAR_034928
Natural variant4611N → H.
Corresponds to variant rs10027479 [ dbSNP | Ensembl ].
VAR_034929
Natural variant4671D → N. Ref.1 Ref.5
Corresponds to variant rs13135778 [ dbSNP | Ensembl ].
VAR_034930
Natural variant4841R → K.
Corresponds to variant rs35690634 [ dbSNP | Ensembl ].
VAR_034931
Natural variant5011T → M in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. Ref.7 Ref.8 Ref.10
VAR_062965
Natural variant511 – 5133Missing in BBS12.
VAR_066273
Natural variant5241Y → C in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2; uncertain pathological role. Ref.9
VAR_066274
Natural variant5251R → H in BBS12. Ref.10
VAR_066275
Natural variant5391G → D in BBS12. Ref.10
VAR_066276
Natural variant5401G → V in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. Ref.7 Ref.8
VAR_034932
Natural variant6151A → V. Ref.5
Corresponds to variant rs17857451 [ dbSNP | Ensembl ].
VAR_034933
Natural variant6741R → C in BBS12. Ref.10
VAR_066277

Experimental info

Sequence conflict4621E → G in CAD98035. Ref.2
Sequence conflict5971K → R in BAC04006. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q6ZW61 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: F441A12526A23B40

FASTA71079,085
        10         20         30         40         50         60 
MVMACRVVNK RRHMGLQQLS SFAETGRTFL GPLKSSKFII DEECHESVLI SSTVRLLESL 

        70         80         90        100        110        120 
DLTSAVGQLL NEAVQAQNNT YRTGISTLLF LVGAWSSAVE ECLHLGVPIS IIVSVMSEGL 

       130        140        150        160        170        180 
NFCSEEVVSL HVPVHNIFDC MDSTKTFSQL ETFSVSLCPF LQVPSDTDLI EELHGLKDVA 

       190        200        210        220        230        240 
SQTLTISNLS GRPLKSYELF KPQTKVEADN NTSRTLKNSL LADTCCRQSI LIHSRHFNRT 

       250        260        270        280        290        300 
DNTEGVSKPD GFQEHVTATH KTYRCNDLVE LAVGLSHGDH SSMKLVEEAV QLQYQNACVQ 

       310        320        330        340        350        360 
QGNCTKPFMF DISRIFTCCL PGLPETSSCV CPGYITVVSV SNNPVIKELQ NQPVRIVLIE 

       370        380        390        400        410        420 
GDLTENYRHL GFNKSANIKT VLDSMRLQED SSEELWANHV LQVLIQFKVN LVLVQGNVSE 

       430        440        450        460        470        480 
RLIEKCINSK RLVIGSVNGS VMQAFAEAAG AVQVAYITQV NEDCVGDGVC VTFWRSSPLD 

       490        500        510        520        530        540 
VVDRNNRIAI LLKTEGINLV TAVLTNPVTA QMQIKEDRFW TCAYRLYYAL KEEKVFLGGG 

       550        560        570        580        590        600 
AVEFLCLSCL HILAEQSLKK ENHACSGWLH NTSSWLASSL AIYRPTVLKF LANGWQKYLS 

       610        620        630        640        650        660 
TLLYNTANYS SEFEASTYIQ HHLQNATDSG SPSSYILNEY SKLNSRIFNS DISNKLEQIP 

       670        680        690        700        710 
RVYDVVTPKI EAWRRALDLV LLVLQTDSEI ITGHGHTQIN SQELTGFLFL 

« Hide

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLN-386 AND ASN-467.
Tissue: Spleen and Tongue.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-386.
Tissue: Fetal kidney.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLN-386.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ARG-195; GLN-386; ASN-467 AND VAL-615.
Tissue: Brain.
[6]"Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation."
Marion V., Stoetzel C., Schlicht D., Messaddeq N., Koch M., Flori E., Danse J.M., Mandel J.-L., Dollfus H.
Proc. Natl. Acad. Sci. U.S.A. 106:1820-1825(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[7]"BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly."
Seo S., Baye L.M., Schulz N.P., Beck J.S., Zhang Q., Slusarski D.C., Sheffield V.C.
Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, IDENTIFICATION IN BBS/CCT COMPLEX, CHARACTERIZATION OF VARIANTS BBS12 VAL-113 DEL; LEU-159; PRO-289; THR-346; MET-501 AND VAL-540.
[8]"Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome."
Stoetzel C., Muller J., Laurier V., Davis E.E., Zaghloul N.A., Vicaire S., Jacquelin C., Plewniak F., Leitch C.C., Sarda P., Hamel C., de Ravel T.J., Lewis R.A., Friederich E., Thibault C., Danse J.-M., Verloes A., Bonneau D. expand/collapse author list , Katsanis N., Poch O., Mandel J.-L., Dollfus H.
Am. J. Hum. Genet. 80:1-11(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS BBS12 VAL-113 DEL; LEU-159; PRO-289; THR-346; MET-501 AND VAL-540, VARIANTS THR-39 AND VAL-170.
[9]"Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes."
Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Riise R., Sheffield V.C., Rosenberg T., Brondum-Nielsen K.
Hum. Mutat. 31:429-436(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BBS12 511-GLN--GLN-513 DEL, VARIANTS THR-39; ARG-408 AND CYS-524.
[10]"BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition."
Deveault C., Billingsley G., Duncan J.L., Bin J., Theal R., Vincent A., Fieggen K.J., Gerth C., Noordeh N., Traboulsi E.I., Fishman G.A., Chitayat D., Knueppel T., Millan J.M., Munier F.L., Kennedy D., Jacobson S.G., Innes A.M. expand/collapse author list , Mitchell G.A., Boycott K., Heon E.
Hum. Mutat. 32:610-619(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS THR-39; SER-119 AND HIS-263, VARIANTS BBS12 ARG-88; GLU-293; GLN-355; MET-400; MET-501; HIS-525; ASP-539 AND CYS-674.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK092949 mRNA. Translation: BAC04006.1. Different initiation.
AK123553 mRNA. Translation: BAC85644.1.
BX538148 mRNA. Translation: CAD98035.1.
AC053545 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX05223.1.
CH471056 Genomic DNA. Translation: EAX05224.1.
BC055426 mRNA. Translation: AAH55426.1.
CCDSCCDS3728.1.
RefSeqNP_001171478.1. NM_001178007.1.
NP_689831.2. NM_152618.2.
UniGeneHs.400698.

3D structure databases

ProteinModelPortalQ6ZW61.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

DIPDIP-60348N.
IntActQ6ZW61. 7 interactions.
STRING9606.ENSP00000319062.

PTM databases

PhosphoSiteQ6ZW61.

Polymorphism databases

DMDM296434408.

Proteomic databases

PaxDbQ6ZW61.
PRIDEQ6ZW61.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000314218; ENSP00000319062; ENSG00000181004.
ENST00000542236; ENSP00000438273; ENSG00000181004.
GeneID166379.
KEGGhsa:166379.
UCSCuc003ieu.3. human.

Organism-specific databases

CTD166379.
GeneCardsGC04P123653.
GeneReviewsBBS12.
H-InvDBHIX0018635.
HGNCHGNC:26648. BBS12.
MIM209900. phenotype.
610683. gene.
neXtProtNX_Q6ZW61.
Orphanet110. Bardet-Biedl syndrome.
PharmGKBPA162377350.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39264.
HOGENOMHOG000294113.
HOVERGENHBG107495.
InParanoidQ6ZW61.
OMAHESVLIS.
OrthoDBEOG7T1RB6.
PhylomeDBQ6ZW61.
TreeFamTF330844.

Gene expression databases

ArrayExpressQ6ZW61.
BgeeQ6ZW61.
CleanExHS_BBS12.
GenevestigatorQ6ZW61.

Family and domain databases

Gene3D1.10.560.10. 2 hits.
3.50.7.10. 1 hit.
InterProIPR002423. Cpn60/TCP-1.
IPR027409. GroEL-like_apical_dom.
IPR027413. GROEL-like_equatorial.
[Graphical view]
PANTHERPTHR11353. PTHR11353. 1 hit.
PfamPF00118. Cpn60_TCP1. 2 hits.
[Graphical view]
SUPFAMSSF48592. SSF48592. 2 hits.
SSF52029. SSF52029. 1 hit.
ProtoNetSearch...

Other

GeneWikiBBS12.
GenomeRNAi166379.
NextBio88593.
PROQ6ZW61.
SOURCESearch...

Entry information

Entry nameBBS12_HUMAN
AccessionPrimary (citable) accession number: Q6ZW61
Secondary accession number(s): D3DNX5 expand/collapse secondary AC list , Q7Z342, Q7Z482, Q8NAB8
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 90 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM