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Q8TAM1

- BBS10_HUMAN

UniProt

Q8TAM1 - BBS10_HUMAN

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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

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. 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
Complete GO annotation...

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. cell projection Source: UniProtKB-KW
Complete GO annotation...

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.4 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

MaxQBiQ8TAM1.
PaxDbiQ8TAM1.
PRIDEiQ8TAM1.

PTM databases

PhosphoSiteiQ8TAM1.

Expressioni

Gene expression databases

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.
GeneTreeiENSGT00390000002417.
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

« Hide

        10         20         30         40         50
MLSSMAAAGS VKAALQVAEV LEAIVSCCVG PEGRQVLCTK PTGEVLLSRN
60 70 80 90 100
GGRLLEALHL EHPIARMIVD CVSSHLKKTG DGAKTFIIFL CHLLRGLHAI
110 120 130 140 150
TDREKDPLMC ENIQTHGRHW KNCSRWKFIS QALLTFQTQI LDGIMDQYLS
160 170 180 190 200
RHFLSIFSSA KERTLCRSSL ELLLEAYFCG RVGRNNHKFI SQLMCDYFFK
210 220 230 240 250
CMTCKSGIGV FELVDDHFVE LNVGVTGLPV SDSRIIAGLV LQKDFSVYRP
260 270 280 290 300
ADGDMRMVIV TETIQPLFST SGSEFILNSE AQFQTSQFWI MEKTKAIMKH
310 320 330 340 350
LHSQNVKLLI SSVKQPDLVS YYAGVNGISV VECLSSEEVS LIRRIIGLSP
360 370 380 390 400
FVPPQAFSQC EIPNTALVKF CKPLILRSKR YVHLGLISTC AFIPHSIVLC
410 420 430 440 450
GPVHGLIEQH EDALHGALKM LRQLFKDLDL NYMTQTNDQN GTSSLFIYKN
460 470 480 490 500
SGESYQAPDP GNGSIQRPYQ DTVAENKDAL EKTQTYLKVH SNLVIPDVEL
510 520 530 540 550
ETYIPYSTPT LTPTDTFQTV ETLTCLSLER NRLTDYYEPL LKNNSTAYST
560 570 580 590 600
RGNRIEISYE NLQVTNITRK GSMLPVSCKL PNMGTSQSYL SSSMPAGCVL
610 620 630 640 650
PVGGNFEILL HYYLLNYAKK CHQSEETMVS MIIANALLGI PKVLYKSKTG
660 670 680 690 700
KYSFPHTYIR AVHALQTNQP LVSSQTGLES VMGKYQLLTS VLQCLTKILT
710 720
IDMVITVKRH PQKVHNQDSE DEL
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. Translation N-terminally extended
The sequence BAB15695.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended

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

MaxQBi Q8TAM1.
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.
GeneTreei ENSGT00390000002417.
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

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

« Hide 'large scale' publications
  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.
  8. "Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome."
    Khan S., Ullah I., Irfanullah X., Touseef M., Basit S., Khan M.N., Ahmad W.
    Gene 515:84-88(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN BBS10.

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 29, 2014
This is version 107 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