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Q8TAM1 (BBS10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 105. 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 10 protein
Gene names
Name:BBS10
Synonyms:C12orf58
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length723 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.3 Ref.4

Subunit structure

Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. Ref.4

Subcellular location

Cell projectioncilium. Note: Located within the basal body of the primary cilium of differentiating preadipocytes. Ref.3

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.5 Ref.6 Ref.7

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.

Sequence caution

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

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

Ontologies

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 723723Bardet-Biedl syndrome 10 protein
PRO_0000235272

Natural variations

Natural variant341R → P in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. Ref.4 Ref.5
VAR_026391
Natural variant491R → W in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. Ref.4 Ref.5 Ref.6 Ref.7
VAR_026392
Natural variant551L → P in BBS10. Ref.7
VAR_066252
Natural variant911C → W in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. Ref.4 Ref.5 Ref.7
VAR_026393
Natural variant1421D → N. Ref.6
Corresponds to variant rs142863601 [ dbSNP | Ensembl ].
VAR_066253
Natural variant1701L → S in BBS10. Ref.5
VAR_026394
Natural variant1881K → T in BBS10; associated with V-636. Ref.7
VAR_066254
Natural variant1951C → W in BBS10. Ref.5
VAR_026395
Natural variant1971Y → C in BBS10. Ref.5
VAR_026396
Natural variant2401V → G in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (8% of wild-type). Ref.4 Ref.5
VAR_026397
Natural variant2551M → I in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2; uncertain pathological role. Ref.6
Corresponds to variant rs139658279 [ dbSNP | Ensembl ].
VAR_066255
Natural variant2961A → T Rare variant found in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS1. Ref.7
Corresponds to variant rs150587582 [ dbSNP | Ensembl ].
VAR_066256
Natural variant3081L → F in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. Ref.4 Ref.5
VAR_026398
Natural variant3111S → A in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (19% of wild-type). Ref.4 Ref.5
VAR_026399
Natural variant3291S → L in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (15% of wild-type). Ref.4 Ref.5
VAR_026400
Natural variant3631P → L in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. Ref.4 Ref.5
VAR_026401
Natural variant3761L → F.
Corresponds to variant rs11109474 [ dbSNP | Ensembl ].
VAR_026402
Natural variant4101H → Q in BBS10. Ref.7
VAR_066257
Natural variant4141L → S in BBS10. Ref.5 Ref.7
VAR_026403
Natural variant5391P → L. Ref.6
Corresponds to variant rs35676114 [ dbSNP | Ensembl ].
VAR_052272
Natural variant5791K → R in BBS10. Ref.5
Corresponds to variant rs141521925 [ dbSNP | Ensembl ].
VAR_026404
Natural variant6001L → S in BBS10. Ref.7
VAR_066258
Natural variant6131Y → C in BBS10. Ref.5
VAR_026405
Natural variant6131Y → H in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. Ref.4 Ref.5
Corresponds to variant rs141647931 [ dbSNP | Ensembl ].
VAR_026406
Natural variant6361A → V in BBS10; associated with T-188. Ref.7
Corresponds to variant rs113224628 [ dbSNP | Ensembl ].
VAR_066259
Natural variant6771G → V in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. Ref.4 Ref.5
VAR_026407
Natural variant6871L → P in BBS10. Ref.6
VAR_066260
Natural variant6891T → P in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. Ref.4 Ref.5
VAR_026408
Natural variant7151H → R. Ref.7
VAR_066261

Experimental info

Mutagenesis811D → 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. Ref.4
Sequence conflict5141T → S in BAB15695. Ref.2
Sequence conflict5861S → Y in BAB15695. Ref.2
Sequence conflict6071E → D in AAH26355. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q8TAM1 [UniParc].

Last modified May 16, 2006. Version 2.
Checksum: 558143FFA5F191DD

FASTA72380,838
        10         20         30         40         50         60 
MLSSMAAAGS VKAALQVAEV LEAIVSCCVG PEGRQVLCTK PTGEVLLSRN GGRLLEALHL 

        70         80         90        100        110        120 
EHPIARMIVD CVSSHLKKTG DGAKTFIIFL CHLLRGLHAI TDREKDPLMC ENIQTHGRHW 

       130        140        150        160        170        180 
KNCSRWKFIS QALLTFQTQI LDGIMDQYLS RHFLSIFSSA KERTLCRSSL ELLLEAYFCG 

       190        200        210        220        230        240 
RVGRNNHKFI SQLMCDYFFK CMTCKSGIGV FELVDDHFVE LNVGVTGLPV SDSRIIAGLV 

       250        260        270        280        290        300 
LQKDFSVYRP ADGDMRMVIV TETIQPLFST SGSEFILNSE AQFQTSQFWI MEKTKAIMKH 

       310        320        330        340        350        360 
LHSQNVKLLI SSVKQPDLVS YYAGVNGISV VECLSSEEVS LIRRIIGLSP FVPPQAFSQC 

       370        380        390        400        410        420 
EIPNTALVKF CKPLILRSKR YVHLGLISTC AFIPHSIVLC GPVHGLIEQH EDALHGALKM 

       430        440        450        460        470        480 
LRQLFKDLDL NYMTQTNDQN GTSSLFIYKN SGESYQAPDP GNGSIQRPYQ DTVAENKDAL 

       490        500        510        520        530        540 
EKTQTYLKVH SNLVIPDVEL ETYIPYSTPT LTPTDTFQTV ETLTCLSLER NRLTDYYEPL 

       550        560        570        580        590        600 
LKNNSTAYST RGNRIEISYE NLQVTNITRK GSMLPVSCKL PNMGTSQSYL SSSMPAGCVL 

       610        620        630        640        650        660 
PVGGNFEILL HYYLLNYAKK CHQSEETMVS MIIANALLGI PKVLYKSKTG KYSFPHTYIR 

       670        680        690        700        710        720 
AVHALQTNQP LVSSQTGLES VMGKYQLLTS VLQCLTKILT IDMVITVKRH PQKVHNQDSE 


DEL 

« Hide

References

« Hide 'large scale' references
[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. 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] 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]"BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus."
Stoetzel C., Laurier V., Davis E.E., Muller J., Rix S., Badano J.L., Leitch C.C., Salem N., Chouery E., Corbani S., Jalk N., Vicaire S., Sarda P., Hamel C., Lacombe D., Holder M., Odent S., Holder S. expand/collapse author list , Brooks A.S., Elcioglu N.H., Da Silva E., Rossillion B., Sigaudy S., de Ravel T.J., Alan Lewis R., Leheup B., Verloes A., Amati-Bonneau P., Megarbane A., Poch O., Bonneau D., Beales P.L., Mandel J.-L., Katsanis N., Dollfus H.
Nat. Genet. 38:521-524(2006) [PubMed] [Europe PMC] [Abstract]
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]"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 BBS10 TRP-49; PRO-55; TRP-91; THR-188; GLN-410; SER-414; SER-600 AND VAL-636, VARIANTS THR-296 AND ARG-715.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BC013795 mRNA. Translation: AAH13795.1. Different initiation.
BC026355 mRNA. Translation: AAH26355.2.
AK027213 mRNA. Translation: BAB15695.1. Different initiation.
CCDSCCDS9014.2.
RefSeqNP_078961.3. NM_024685.3.
UniGeneHs.96322.

3D structure databases

ProteinModelPortalQ8TAM1.
SMRQ8TAM1. Positions 12-430.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122851. 13 interactions.
DIPDIP-60347N.
IntActQ8TAM1. 19 interactions.
MINTMINT-8247383.
STRING9606.ENSP00000376946.

PTM databases

PhosphoSiteQ8TAM1.

Polymorphism databases

DMDM97043964.

Proteomic databases

PaxDbQ8TAM1.
PRIDEQ8TAM1.

Protocols and materials databases

DNASU79738.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000393262; ENSP00000376946; ENSG00000179941.
GeneID79738.
KEGGhsa:79738.
UCSCuc001syd.1. human.

Organism-specific databases

CTD79738.
GeneCardsGC12M076738.
GeneReviewsBBS10.
H-InvDBHIX0010839.
HGNCHGNC:26291. BBS10.
HPAHPA047954.
HPA058743.
MIM209900. phenotype.
610148. gene.
neXtProtNX_Q8TAM1.
Orphanet110. Bardet-Biedl syndrome.
PharmGKBPA143485387.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0459.
HOGENOMHOG000050242.
HOVERGENHBG055802.
InParanoidQ8TAM1.
OMACVLPVGG.
OrthoDBEOG7SXW5J.
PhylomeDBQ8TAM1.
TreeFamTF335867.

Gene expression databases

ArrayExpressQ8TAM1.
BgeeQ8TAM1.
CleanExHS_BBS10.
GenevestigatorQ8TAM1.

Family and domain databases

Gene3D1.10.560.10. 2 hits.
InterProIPR002423. Cpn60/TCP-1.
IPR027413. GROEL-like_equatorial.
[Graphical view]
PfamPF00118. Cpn60_TCP1. 2 hits.
[Graphical view]
SUPFAMSSF48592. SSF48592. 2 hits.
ProtoNetSearch...

Other

ChiTaRSBBS10. human.
GeneWikiBBS10.
GenomeRNAi79738.
NextBio69134.
PROQ8TAM1.
SOURCESearch...

Entry information

Entry nameBBS10_HUMAN
AccessionPrimary (citable) accession number: Q8TAM1
Secondary accession number(s): Q96CW2, Q9H5D2
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 16, 2006
Last modified: July 9, 2014
This is version 105 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 12

Human chromosome 12: entries, gene names and cross-references to MIM