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Q6ZW61

- BBS12_HUMAN

UniProt

Q6ZW61 - BBS12_HUMAN

Protein

Bardet-Biedl syndrome 12 protein

Gene

BBS12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    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.2 Publications

    GO - Molecular functioni

    1. ATP binding Source: InterPro
    2. protein binding Source: IntAct

    GO - Biological processi

    1. cellular protein metabolic process Source: InterPro
    2. chaperone-mediated protein complex assembly Source: MGI
    3. negative regulation of fat cell differentiation Source: MGI

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bardet-Biedl syndrome 12 protein
    Gene namesi
    Name:BBS12
    Synonyms:C4orf24
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:26648. BBS12.

    Subcellular locationi

    Cell projectioncilium 1 Publication
    Note: Located within the basal body of the primary cilium of differentiating preadipocytes.

    GO - Cellular componenti

    1. cilium Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cilium

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti88 – 881L → R in BBS12. 1 Publication
    VAR_066266
    Natural varianti113 – 1131Missing in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 1 Publication
    VAR_034920
    Natural varianti159 – 1591P → L in BBS12; pathogenicity uncertain; significantly reduces the interaction with MKKS; the interaction with BBS10 is not affected by this mutation. 1 Publication
    VAR_034922
    Natural varianti289 – 2891A → 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. 1 Publication
    VAR_034926
    Natural varianti293 – 2931Q → E in BBS12. 1 Publication
    VAR_066269
    Natural varianti346 – 3461I → 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. 1 Publication
    VAR_062964
    Natural varianti355 – 3551R → Q in BBS12. 1 Publication
    VAR_066270
    Natural varianti400 – 4001V → M in BBS12. 1 Publication
    VAR_066271
    Natural varianti501 – 5011T → 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. 2 Publications
    VAR_062965
    Natural varianti511 – 5133Missing in BBS12. 1 Publication
    VAR_066273
    Natural varianti525 – 5251R → H in BBS12. 1 Publication
    VAR_066275
    Natural varianti539 – 5391G → D in BBS12. 1 Publication
    VAR_066276
    Natural varianti540 – 5401G → 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. 1 Publication
    VAR_034932
    Natural varianti674 – 6741R → C in BBS12. 1 Publication
    VAR_066277

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

    Organism-specific databases

    MIMi209900. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    PharmGKBiPA162377350.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 710710Bardet-Biedl syndrome 12 proteinPRO_0000301981Add
    BLAST

    Proteomic databases

    PaxDbiQ6ZW61.
    PRIDEiQ6ZW61.

    PTM databases

    PhosphoSiteiQ6ZW61.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6ZW61.
    BgeeiQ6ZW61.
    CleanExiHS_BBS12.
    GenevestigatoriQ6ZW61.

    Interactioni

    Subunit structurei

    Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BBS10Q8TAM15EBI-6128352,EBI-6128013
    BBS7Q8IWZ66EBI-6128352,EBI-1806001
    BBS9Q3SYG42EBI-6128352,EBI-2826852
    MKKSQ9NPJ110EBI-6128352,EBI-721319

    Protein-protein interaction databases

    DIPiDIP-60348N.
    IntActiQ6ZW61. 7 interactions.
    STRINGi9606.ENSP00000319062.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZW61.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG39264.
    HOGENOMiHOG000294113.
    HOVERGENiHBG107495.
    InParanoidiQ6ZW61.
    OMAiHESVLIS.
    OrthoDBiEOG7T1RB6.
    PhylomeDBiQ6ZW61.
    TreeFamiTF330844.

    Family and domain databases

    Gene3Di1.10.560.10. 2 hits.
    3.50.7.10. 1 hit.
    InterProiIPR002423. Cpn60/TCP-1.
    IPR027409. GroEL-like_apical_dom.
    IPR027413. GROEL-like_equatorial.
    [Graphical view]
    PANTHERiPTHR11353. PTHR11353. 1 hit.
    PfamiPF00118. Cpn60_TCP1. 2 hits.
    [Graphical view]
    SUPFAMiSSF48592. SSF48592. 2 hits.
    SSF52029. SSF52029. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q6ZW61-1 [UniParc]FASTAAdd to Basket

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    MVMACRVVNK RRHMGLQQLS SFAETGRTFL GPLKSSKFII DEECHESVLI    50
    SSTVRLLESL DLTSAVGQLL NEAVQAQNNT YRTGISTLLF LVGAWSSAVE 100
    ECLHLGVPIS IIVSVMSEGL NFCSEEVVSL HVPVHNIFDC MDSTKTFSQL 150
    ETFSVSLCPF LQVPSDTDLI EELHGLKDVA SQTLTISNLS GRPLKSYELF 200
    KPQTKVEADN NTSRTLKNSL LADTCCRQSI LIHSRHFNRT DNTEGVSKPD 250
    GFQEHVTATH KTYRCNDLVE LAVGLSHGDH SSMKLVEEAV QLQYQNACVQ 300
    QGNCTKPFMF DISRIFTCCL PGLPETSSCV CPGYITVVSV SNNPVIKELQ 350
    NQPVRIVLIE GDLTENYRHL GFNKSANIKT VLDSMRLQED SSEELWANHV 400
    LQVLIQFKVN LVLVQGNVSE RLIEKCINSK RLVIGSVNGS VMQAFAEAAG 450
    AVQVAYITQV NEDCVGDGVC VTFWRSSPLD VVDRNNRIAI LLKTEGINLV 500
    TAVLTNPVTA QMQIKEDRFW TCAYRLYYAL KEEKVFLGGG AVEFLCLSCL 550
    HILAEQSLKK ENHACSGWLH NTSSWLASSL AIYRPTVLKF LANGWQKYLS 600
    TLLYNTANYS SEFEASTYIQ HHLQNATDSG SPSSYILNEY SKLNSRIFNS 650
    DISNKLEQIP RVYDVVTPKI EAWRRALDLV LLVLQTDSEI ITGHGHTQIN 700
    SQELTGFLFL 710
    Length:710
    Mass (Da):79,085
    Last modified:May 18, 2010 - v2
    Checksum:iF441A12526A23B40
    GO

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti462 – 4621E → G in CAD98035. (PubMed:17974005)Curated
    Sequence conflicti597 – 5971K → R in BAC04006. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391I → T.3 Publications
    Corresponds to variant rs138036823 [ dbSNP | Ensembl ].
    VAR_034919
    Natural varianti88 – 881L → R in BBS12. 1 Publication
    VAR_066266
    Natural varianti113 – 1131Missing in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 1 Publication
    VAR_034920
    Natural varianti119 – 1191G → S Associated with H-263 in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10. 1 Publication
    Corresponds to variant rs77731085 [ dbSNP | Ensembl ].
    VAR_066267
    Natural varianti126 – 1261E → D.
    Corresponds to variant rs309369 [ dbSNP | Ensembl ].
    VAR_034921
    Natural varianti159 – 1591P → L in BBS12; pathogenicity uncertain; significantly reduces the interaction with MKKS; the interaction with BBS10 is not affected by this mutation. 1 Publication
    VAR_034922
    Natural varianti170 – 1701I → V.1 Publication
    VAR_034923
    Natural varianti195 – 1951K → R.1 Publication
    Corresponds to variant rs17854892 [ dbSNP | Ensembl ].
    VAR_034924
    Natural varianti238 – 2381N → K.
    Corresponds to variant rs17006082 [ dbSNP | Ensembl ].
    VAR_034925
    Natural varianti263 – 2631Y → H Associated with S-119 in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10. 1 Publication
    Corresponds to variant rs150040166 [ dbSNP | Ensembl ].
    VAR_066268
    Natural varianti289 – 2891A → 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. 1 Publication
    VAR_034926
    Natural varianti293 – 2931Q → E in BBS12. 1 Publication
    VAR_066269
    Natural varianti346 – 3461I → 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. 1 Publication
    VAR_062964
    Natural varianti355 – 3551R → Q in BBS12. 1 Publication
    VAR_066270
    Natural varianti386 – 3861R → Q.4 Publications
    Corresponds to variant rs309370 [ dbSNP | Ensembl ].
    VAR_034927
    Natural varianti400 – 4001V → M in BBS12. 1 Publication
    VAR_066271
    Natural varianti408 – 4081K → R in a patient with Bardet-Biedl syndrome compound heterozygote for BBS2 mutations; uncertain pathological role. 1 Publication
    VAR_066272
    Natural varianti429 – 4291S → T.
    Corresponds to variant rs7665271 [ dbSNP | Ensembl ].
    VAR_034928
    Natural varianti461 – 4611N → H.
    Corresponds to variant rs10027479 [ dbSNP | Ensembl ].
    VAR_034929
    Natural varianti467 – 4671D → N.2 Publications
    Corresponds to variant rs13135778 [ dbSNP | Ensembl ].
    VAR_034930
    Natural varianti484 – 4841R → K.
    Corresponds to variant rs35690634 [ dbSNP | Ensembl ].
    VAR_034931
    Natural varianti501 – 5011T → 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. 2 Publications
    VAR_062965
    Natural varianti511 – 5133Missing in BBS12. 1 Publication
    VAR_066273
    Natural varianti524 – 5241Y → C in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2; uncertain pathological role. 1 Publication
    VAR_066274
    Natural varianti525 – 5251R → H in BBS12. 1 Publication
    VAR_066275
    Natural varianti539 – 5391G → D in BBS12. 1 Publication
    VAR_066276
    Natural varianti540 – 5401G → 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. 1 Publication
    VAR_034932
    Natural varianti615 – 6151A → V.1 Publication
    Corresponds to variant rs17857451 [ dbSNP | Ensembl ].
    VAR_034933
    Natural varianti674 – 6741R → C in BBS12. 1 Publication
    VAR_066277

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS3728.1.
    RefSeqiNP_001171478.1. NM_001178007.1.
    NP_689831.2. NM_152618.2.
    UniGeneiHs.400698.

    Genome annotation databases

    EnsembliENST00000314218; ENSP00000319062; ENSG00000181004.
    ENST00000542236; ENSP00000438273; ENSG00000181004.
    GeneIDi166379.
    KEGGihsa:166379.
    UCSCiuc003ieu.3. human.

    Polymorphism databases

    DMDMi296434408.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS3728.1.
    RefSeqi NP_001171478.1. NM_001178007.1.
    NP_689831.2. NM_152618.2.
    UniGenei Hs.400698.

    3D structure databases

    ProteinModelPortali Q6ZW61.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    DIPi DIP-60348N.
    IntActi Q6ZW61. 7 interactions.
    STRINGi 9606.ENSP00000319062.

    PTM databases

    PhosphoSitei Q6ZW61.

    Polymorphism databases

    DMDMi 296434408.

    Proteomic databases

    PaxDbi Q6ZW61.
    PRIDEi Q6ZW61.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000314218 ; ENSP00000319062 ; ENSG00000181004 .
    ENST00000542236 ; ENSP00000438273 ; ENSG00000181004 .
    GeneIDi 166379.
    KEGGi hsa:166379.
    UCSCi uc003ieu.3. human.

    Organism-specific databases

    CTDi 166379.
    GeneCardsi GC04P123653.
    GeneReviewsi BBS12.
    H-InvDB HIX0018635.
    HGNCi HGNC:26648. BBS12.
    MIMi 209900. phenotype.
    610683. gene.
    neXtProti NX_Q6ZW61.
    Orphaneti 110. Bardet-Biedl syndrome.
    PharmGKBi PA162377350.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39264.
    HOGENOMi HOG000294113.
    HOVERGENi HBG107495.
    InParanoidi Q6ZW61.
    OMAi HESVLIS.
    OrthoDBi EOG7T1RB6.
    PhylomeDBi Q6ZW61.
    TreeFami TF330844.

    Miscellaneous databases

    GeneWikii BBS12.
    GenomeRNAii 166379.
    NextBioi 88593.
    PROi Q6ZW61.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6ZW61.
    Bgeei Q6ZW61.
    CleanExi HS_BBS12.
    Genevestigatori Q6ZW61.

    Family and domain databases

    Gene3Di 1.10.560.10. 2 hits.
    3.50.7.10. 1 hit.
    InterProi IPR002423. Cpn60/TCP-1.
    IPR027409. GroEL-like_apical_dom.
    IPR027413. GROEL-like_equatorial.
    [Graphical view ]
    PANTHERi PTHR11353. PTHR11353. 1 hit.
    Pfami PF00118. Cpn60_TCP1. 2 hits.
    [Graphical view ]
    SUPFAMi SSF48592. SSF48592. 2 hits.
    SSF52029. SSF52029. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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.
      , 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. 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.
      , 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. 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.

    Entry informationi

    Entry nameiBBS12_HUMAN
    AccessioniPrimary (citable) accession number: Q6ZW61
    Secondary accession number(s): D3DNX5
    , Q7Z342, Q7Z482, Q8NAB8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 91 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    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.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3