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Q8TAM1

- BBS10_HUMAN

UniProt

Q8TAM1 - BBS10_HUMAN

Protein

Bardet-Biedl syndrome 10 protein

Gene

BBS10

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (16 May 2006)
      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: UniProtKB-KW
    2. protein binding Source: IntAct
    3. RNA polymerase II repressing transcription factor binding Source: MGI

    GO - Biological processi

    1. cellular protein metabolic process Source: InterPro
    2. chaperone-mediated protein complex assembly Source: MGI
    3. nonmotile primary cilium assembly Source: BHF-UCL
    4. photoreceptor cell maintenance Source: BHF-UCL
    5. regulation of protein complex assembly Source: MGI
    6. response to stimulus Source: UniProtKB-KW
    7. retina homeostasis Source: BHF-UCL
    8. visual perception Source: UniProtKB-KW

    Keywords - Molecular functioni

    Chaperone

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bardet-Biedl syndrome 10 protein
    Gene namesi
    Name:BBS10
    Synonyms:C12orf58
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:26291. BBS10.

    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

    Pathology & Biotechi

    Involvement in diseasei

    Bardet-Biedl syndrome 10 (BBS10) [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 varianti34 – 341R → P in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    VAR_026391
    Natural varianti49 – 491R → W in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 3 Publications
    VAR_026392
    Natural varianti55 – 551L → P in BBS10. 1 Publication
    VAR_066252
    Natural varianti91 – 911C → W in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 Publications
    VAR_026393
    Natural varianti170 – 1701L → S in BBS10. 1 Publication
    VAR_026394
    Natural varianti188 – 1881K → T in BBS10; associated with V-636. 1 Publication
    VAR_066254
    Natural varianti195 – 1951C → W in BBS10. 1 Publication
    VAR_026395
    Natural varianti197 – 1971Y → C in BBS10. 1 Publication
    VAR_026396
    Natural varianti240 – 2401V → G in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (8% of wild-type). 1 Publication
    VAR_026397
    Natural varianti308 – 3081L → F in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    VAR_026398
    Natural varianti311 – 3111S → A in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (19% of wild-type). 1 Publication
    VAR_026399
    Natural varianti329 – 3291S → L in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (15% of wild-type). 1 Publication
    VAR_026400
    Natural varianti363 – 3631P → L in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    VAR_026401
    Natural varianti410 – 4101H → Q in BBS10. 1 Publication
    VAR_066257
    Natural varianti414 – 4141L → S in BBS10. 2 Publications
    VAR_026403
    Natural varianti579 – 5791K → R in BBS10. 1 Publication
    Corresponds to variant rs141521925 [ dbSNP | Ensembl ].
    VAR_026404
    Natural varianti600 – 6001L → S in BBS10. 1 Publication
    VAR_066258
    Natural varianti613 – 6131Y → C in BBS10. 1 Publication
    VAR_026405
    Natural varianti613 – 6131Y → H in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    Corresponds to variant rs141647931 [ dbSNP | Ensembl ].
    VAR_026406
    Natural varianti636 – 6361A → V in BBS10; associated with T-188. 1 Publication
    Corresponds to variant rs113224628 [ dbSNP | Ensembl ].
    VAR_066259
    Natural varianti677 – 6771G → V in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    VAR_026407
    Natural varianti687 – 6871L → P in BBS10. 1 Publication
    VAR_066260
    Natural varianti689 – 6891T → P in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    VAR_026408

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi81 – 811D → N: Greatly decreases all interactions with BBS7, BBS9 and BBS12 indicating that this residue may be required for overall protein conformation rather than required for ATP binding and substrate folding. 1 Publication

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi209900. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    PharmGKBiPA143485387.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 723723Bardet-Biedl syndrome 10 proteinPRO_0000235272Add
    BLAST

    Proteomic databases

    PaxDbiQ8TAM1.
    PRIDEiQ8TAM1.

    PTM databases

    PhosphoSiteiQ8TAM1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8TAM1.
    BgeeiQ8TAM1.
    CleanExiHS_BBS10.
    GenevestigatoriQ8TAM1.

    Organism-specific databases

    HPAiHPA047954.
    HPA058743.

    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
    BBS12Q6ZW615EBI-6128013,EBI-6128352
    BBS7Q8IWZ64EBI-6128013,EBI-1806001
    BBS9Q3SYG42EBI-6128013,EBI-2826852

    Protein-protein interaction databases

    BioGridi122851. 13 interactions.
    DIPiDIP-60347N.
    IntActiQ8TAM1. 19 interactions.
    MINTiMINT-8247383.
    STRINGi9606.ENSP00000376946.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TAM1.
    SMRiQ8TAM1. Positions 12-430.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TCP-1 chaperonin family.Curated

    Phylogenomic databases

    eggNOGiCOG0459.
    HOGENOMiHOG000050242.
    HOVERGENiHBG055802.
    InParanoidiQ8TAM1.
    OMAiCVLPVGG.
    OrthoDBiEOG7SXW5J.
    PhylomeDBiQ8TAM1.
    TreeFamiTF335867.

    Family and domain databases

    Gene3Di1.10.560.10. 2 hits.
    InterProiIPR002423. Cpn60/TCP-1.
    IPR027413. GROEL-like_equatorial.
    [Graphical view]
    PfamiPF00118. Cpn60_TCP1. 2 hits.
    [Graphical view]
    SUPFAMiSSF48592. SSF48592. 2 hits.

    Sequencei

    Sequence statusi: Complete.

    Q8TAM1-1 [UniParc]FASTAAdd to Basket

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    MLSSMAAAGS VKAALQVAEV LEAIVSCCVG PEGRQVLCTK PTGEVLLSRN    50
    GGRLLEALHL EHPIARMIVD CVSSHLKKTG DGAKTFIIFL CHLLRGLHAI 100
    TDREKDPLMC ENIQTHGRHW KNCSRWKFIS QALLTFQTQI LDGIMDQYLS 150
    RHFLSIFSSA KERTLCRSSL ELLLEAYFCG RVGRNNHKFI SQLMCDYFFK 200
    CMTCKSGIGV FELVDDHFVE LNVGVTGLPV SDSRIIAGLV LQKDFSVYRP 250
    ADGDMRMVIV TETIQPLFST SGSEFILNSE AQFQTSQFWI MEKTKAIMKH 300
    LHSQNVKLLI SSVKQPDLVS YYAGVNGISV VECLSSEEVS LIRRIIGLSP 350
    FVPPQAFSQC EIPNTALVKF CKPLILRSKR YVHLGLISTC AFIPHSIVLC 400
    GPVHGLIEQH EDALHGALKM LRQLFKDLDL NYMTQTNDQN GTSSLFIYKN 450
    SGESYQAPDP GNGSIQRPYQ DTVAENKDAL EKTQTYLKVH SNLVIPDVEL 500
    ETYIPYSTPT LTPTDTFQTV ETLTCLSLER NRLTDYYEPL LKNNSTAYST 550
    RGNRIEISYE NLQVTNITRK GSMLPVSCKL PNMGTSQSYL SSSMPAGCVL 600
    PVGGNFEILL HYYLLNYAKK CHQSEETMVS MIIANALLGI PKVLYKSKTG 650
    KYSFPHTYIR AVHALQTNQP LVSSQTGLES VMGKYQLLTS VLQCLTKILT 700
    IDMVITVKRH PQKVHNQDSE DEL 723
    Length:723
    Mass (Da):80,838
    Last modified:May 16, 2006 - v2
    Checksum:i558143FFA5F191DD
    GO

    Sequence cautioni

    The sequence AAH13795.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAB15695.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti514 – 5141T → S in BAB15695. (PubMed:14702039)Curated
    Sequence conflicti586 – 5861S → Y in BAB15695. (PubMed:14702039)Curated
    Sequence conflicti607 – 6071E → D in AAH26355. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341R → P in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    VAR_026391
    Natural varianti49 – 491R → W in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 3 Publications
    VAR_026392
    Natural varianti55 – 551L → P in BBS10. 1 Publication
    VAR_066252
    Natural varianti91 – 911C → W in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 Publications
    VAR_026393
    Natural varianti142 – 1421D → N.1 Publication
    Corresponds to variant rs142863601 [ dbSNP | Ensembl ].
    VAR_066253
    Natural varianti170 – 1701L → S in BBS10. 1 Publication
    VAR_026394
    Natural varianti188 – 1881K → T in BBS10; associated with V-636. 1 Publication
    VAR_066254
    Natural varianti195 – 1951C → W in BBS10. 1 Publication
    VAR_026395
    Natural varianti197 – 1971Y → C in BBS10. 1 Publication
    VAR_026396
    Natural varianti240 – 2401V → G in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (8% of wild-type). 1 Publication
    VAR_026397
    Natural varianti255 – 2551M → I in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2; uncertain pathological role. 1 Publication
    Corresponds to variant rs139658279 [ dbSNP | Ensembl ].
    VAR_066255
    Natural varianti296 – 2961A → T Rare variant found in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS1. 1 Publication
    Corresponds to variant rs150587582 [ dbSNP | Ensembl ].
    VAR_066256
    Natural varianti308 – 3081L → F in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    VAR_026398
    Natural varianti311 – 3111S → A in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (19% of wild-type). 1 Publication
    VAR_026399
    Natural varianti329 – 3291S → L in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (15% of wild-type). 1 Publication
    VAR_026400
    Natural varianti363 – 3631P → L in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    VAR_026401
    Natural varianti376 – 3761L → F.
    Corresponds to variant rs11109474 [ dbSNP | Ensembl ].
    VAR_026402
    Natural varianti410 – 4101H → Q in BBS10. 1 Publication
    VAR_066257
    Natural varianti414 – 4141L → S in BBS10. 2 Publications
    VAR_026403
    Natural varianti539 – 5391P → L.1 Publication
    Corresponds to variant rs35676114 [ dbSNP | Ensembl ].
    VAR_052272
    Natural varianti579 – 5791K → R in BBS10. 1 Publication
    Corresponds to variant rs141521925 [ dbSNP | Ensembl ].
    VAR_026404
    Natural varianti600 – 6001L → S in BBS10. 1 Publication
    VAR_066258
    Natural varianti613 – 6131Y → C in BBS10. 1 Publication
    VAR_026405
    Natural varianti613 – 6131Y → H in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    Corresponds to variant rs141647931 [ dbSNP | Ensembl ].
    VAR_026406
    Natural varianti636 – 6361A → V in BBS10; associated with T-188. 1 Publication
    Corresponds to variant rs113224628 [ dbSNP | Ensembl ].
    VAR_066259
    Natural varianti677 – 6771G → V in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    VAR_026407
    Natural varianti687 – 6871L → P in BBS10. 1 Publication
    VAR_066260
    Natural varianti689 – 6891T → P in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 1 Publication
    VAR_026408
    Natural varianti715 – 7151H → R.1 Publication
    VAR_066261

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC013795 mRNA. Translation: AAH13795.1. Different initiation.
    BC026355 mRNA. Translation: AAH26355.2.
    AK027213 mRNA. Translation: BAB15695.1. Different initiation.
    CCDSiCCDS9014.2.
    RefSeqiNP_078961.3. NM_024685.3.
    UniGeneiHs.96322.

    Genome annotation databases

    EnsembliENST00000393262; ENSP00000376946; ENSG00000179941.
    GeneIDi79738.
    KEGGihsa:79738.
    UCSCiuc001syd.1. human.

    Polymorphism databases

    DMDMi97043964.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC013795 mRNA. Translation: AAH13795.1 . Different initiation.
    BC026355 mRNA. Translation: AAH26355.2 .
    AK027213 mRNA. Translation: BAB15695.1 . Different initiation.
    CCDSi CCDS9014.2.
    RefSeqi NP_078961.3. NM_024685.3.
    UniGenei Hs.96322.

    3D structure databases

    ProteinModelPortali Q8TAM1.
    SMRi Q8TAM1. Positions 12-430.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122851. 13 interactions.
    DIPi DIP-60347N.
    IntActi Q8TAM1. 19 interactions.
    MINTi MINT-8247383.
    STRINGi 9606.ENSP00000376946.

    PTM databases

    PhosphoSitei Q8TAM1.

    Polymorphism databases

    DMDMi 97043964.

    Proteomic databases

    PaxDbi Q8TAM1.
    PRIDEi Q8TAM1.

    Protocols and materials databases

    DNASUi 79738.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000393262 ; ENSP00000376946 ; ENSG00000179941 .
    GeneIDi 79738.
    KEGGi hsa:79738.
    UCSCi uc001syd.1. human.

    Organism-specific databases

    CTDi 79738.
    GeneCardsi GC12M076738.
    GeneReviewsi BBS10.
    H-InvDB HIX0010839.
    HGNCi HGNC:26291. BBS10.
    HPAi HPA047954.
    HPA058743.
    MIMi 209900. phenotype.
    610148. gene.
    neXtProti NX_Q8TAM1.
    Orphaneti 110. Bardet-Biedl syndrome.
    PharmGKBi PA143485387.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0459.
    HOGENOMi HOG000050242.
    HOVERGENi HBG055802.
    InParanoidi Q8TAM1.
    OMAi CVLPVGG.
    OrthoDBi EOG7SXW5J.
    PhylomeDBi Q8TAM1.
    TreeFami TF335867.

    Miscellaneous databases

    ChiTaRSi BBS10. human.
    GeneWikii BBS10.
    GenomeRNAii 79738.
    NextBioi 69134.
    PROi Q8TAM1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TAM1.
    Bgeei Q8TAM1.
    CleanExi HS_BBS10.
    Genevestigatori Q8TAM1.

    Family and domain databases

    Gene3Di 1.10.560.10. 2 hits.
    InterProi IPR002423. Cpn60/TCP-1.
    IPR027413. GROEL-like_equatorial.
    [Graphical view ]
    Pfami PF00118. Cpn60_TCP1. 2 hits.
    [Graphical view ]
    SUPFAMi SSF48592. SSF48592. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "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].
      Tissue: Hippocampus and Skin.
    2. "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] OF 512-723.
      Tissue: Lung.
    3. "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.
    4. "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 BBS10 PRO-34; TRP-49; TRP-91; GLY-240; PHE-308; ALA-311; LEU-329; LEU-363; HIS-613; VAL-677 AND PRO-689, MUTAGENESIS OF ASP-81.
    5. Cited for: VARIANTS BBS10 PRO-34; TRP-49; TRP-91; SER-170; TRP-195; CYS-197; GLY-240; PHE-308; ALA-311; LEU-329; LEU-363; SER-414; ARG-579; HIS-613; CYS-613; VAL-677 AND PRO-689.
    6. "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: VARIANTS BBS10 TRP-49 AND PRO-687, VARIANTS ASN-142; ILE-255 AND LEU-539.
    7. Cited for: VARIANTS BBS10 TRP-49; PRO-55; TRP-91; THR-188; GLN-410; SER-414; SER-600 AND VAL-636, VARIANTS THR-296 AND ARG-715.

    Entry informationi

    Entry nameiBBS10_HUMAN
    AccessioniPrimary (citable) accession number: Q8TAM1
    Secondary accession number(s): Q96CW2, Q9H5D2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: May 16, 2006
    Last modified: October 1, 2014
    This is version 106 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 12
      Human chromosome 12: 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