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Protein

Bardet-Biedl syndrome 10 protein

Gene

BBS10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184).2 Publications

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 in the pathogenesis of obesity in BBS.

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • RNA polymerase II repressing transcription factor binding Source: MGI

GO - Biological processi

Keywordsi

Molecular functionChaperone
Biological processSensory transduction, Vision
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5620922 BBSome-mediated cargo-targeting to cilium

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000179941.6
HGNCiHGNC:26291 BBS10
MIMi610148 gene
neXtProtiNX_Q8TAM1

Subcellular locationi

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Involvement in diseasei

Bardet-Biedl syndrome 10 (BBS10)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615987
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07572211V → G in BBS10. 1 PublicationCorresponds to variant dbSNP:rs137852838EnsemblClinVar.1
Natural variantiVAR_02639134R → P in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 PublicationsCorresponds to variant dbSNP:rs137852836EnsemblClinVar.1
Natural variantiVAR_02639249R → W in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 4 PublicationsCorresponds to variant dbSNP:rs768933093EnsemblClinVar.1
Natural variantiVAR_06625255L → P in BBS10. 1 Publication1
Natural variantiVAR_02639391C → W in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 3 PublicationsCorresponds to variant dbSNP:rs148374859EnsemblClinVar.1
Natural variantiVAR_026394170L → S in BBS10. 1 PublicationCorresponds to variant dbSNP:rs780916348Ensembl.1
Natural variantiVAR_066254188K → T in BBS10; associated with V-636. 1 Publication1
Natural variantiVAR_026395195C → W in BBS10. 1 Publication1
Natural variantiVAR_026396197Y → C in BBS10. 1 PublicationCorresponds to variant dbSNP:rs756632517EnsemblClinVar.1
Natural variantiVAR_026397240V → G in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 8% of wild-type. 2 Publications1
Natural variantiVAR_026398308L → F in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 Publications1
Natural variantiVAR_026399311S → A in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 19% of wild-type. 3 PublicationsCorresponds to variant dbSNP:rs137852837EnsemblClinVar.1
Natural variantiVAR_026400329S → L in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 15% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs1000990130Ensembl.1
Natural variantiVAR_026401363P → L in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 PublicationsCorresponds to variant dbSNP:rs938066133Ensembl.1
Natural variantiVAR_066257410H → Q in BBS10. 1 Publication1
Natural variantiVAR_026403414L → S in BBS10. 2 PublicationsCorresponds to variant dbSNP:rs786204575EnsemblClinVar.1
Natural variantiVAR_079367559 – 723Missing in BBS10; unknown pathological significance. 1 PublicationAdd BLAST165
Natural variantiVAR_026404579K → R in BBS10. 1 PublicationCorresponds to variant dbSNP:rs141521925EnsemblClinVar.1
Natural variantiVAR_066258600L → S in BBS10. 1 Publication1
Natural variantiVAR_026405613Y → C in BBS10. 1 PublicationCorresponds to variant dbSNP:rs575957641EnsemblClinVar.1
Natural variantiVAR_026406613Y → H in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 PublicationsCorresponds to variant dbSNP:rs141647931Ensembl.1
Natural variantiVAR_066259636A → V in BBS10; associated with T-188. 1 PublicationCorresponds to variant dbSNP:rs113224628Ensembl.1
Natural variantiVAR_079368658 – 723Missing in BBS10; unknown pathological significance. 1 PublicationAdd BLAST66
Natural variantiVAR_026407677G → V in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 Publications1
Natural variantiVAR_066260687L → P in BBS10. 1 Publication1
Natural variantiVAR_026408689T → P in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 PublicationsCorresponds to variant dbSNP:rs759387000EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi81D → 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 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi79738
GeneReviewsiBBS10
MalaCardsiBBS10
MIMi615987 phenotype
OpenTargetsiENSG00000179941
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA143485387

Polymorphism and mutation databases

BioMutaiBBS10
DMDMi97043964

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002352721 – 723Bardet-Biedl syndrome 10 proteinAdd BLAST723

Proteomic databases

EPDiQ8TAM1
MaxQBiQ8TAM1
PaxDbiQ8TAM1
PeptideAtlasiQ8TAM1
PRIDEiQ8TAM1
ProteomicsDBi73892

PTM databases

iPTMnetiQ8TAM1
PhosphoSitePlusiQ8TAM1

Expressioni

Gene expression databases

BgeeiENSG00000179941 Expressed in 199 organ(s), highest expression level in brain
CleanExiHS_BBS10
GenevisibleiQ8TAM1 HS

Organism-specific databases

HPAiHPA047954
HPA058743

Interactioni

Subunit structurei

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122851, 18 interactors
CORUMiQ8TAM1
DIPiDIP-60347N
IntActiQ8TAM1, 22 interactors
MINTiQ8TAM1
STRINGi9606.ENSP00000376946

Structurei

3D structure databases

ProteinModelPortaliQ8TAM1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TCP-1 chaperonin family.Curated

Phylogenomic databases

eggNOGiKOG0360 Eukaryota
COG0459 LUCA
GeneTreeiENSGT00390000002417
HOGENOMiHOG000050242
HOVERGENiHBG055802
InParanoidiQ8TAM1
KOiK19401
OMAiAKTFIIF
OrthoDBiEOG091G0H6P
PhylomeDBiQ8TAM1
TreeFamiTF335867

Family and domain databases

Gene3Di1.10.560.10, 2 hits
3.30.260.10, 1 hit
3.50.7.10, 1 hit
InterProiView protein in InterPro
IPR002423 Cpn60/TCP-1
IPR027409 GroEL-like_apical_dom_sf
IPR027413 GROEL-like_equatorial_sf
IPR027410 TCP-1-like_intermed_sf
PfamiView protein in Pfam
PF00118 Cpn60_TCP1, 2 hits
SUPFAMiSSF48592 SSF48592, 1 hit

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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15695 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti514T → S in BAB15695 (PubMed:14702039).Curated1
Sequence conflicti586S → Y in BAB15695 (PubMed:14702039).Curated1
Sequence conflicti607E → D in AAH26355 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07572211V → G in BBS10. 1 PublicationCorresponds to variant dbSNP:rs137852838EnsemblClinVar.1
Natural variantiVAR_02639134R → P in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 PublicationsCorresponds to variant dbSNP:rs137852836EnsemblClinVar.1
Natural variantiVAR_02639249R → W in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 4 PublicationsCorresponds to variant dbSNP:rs768933093EnsemblClinVar.1
Natural variantiVAR_06625255L → P in BBS10. 1 Publication1
Natural variantiVAR_02639391C → W in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 3 PublicationsCorresponds to variant dbSNP:rs148374859EnsemblClinVar.1
Natural variantiVAR_066253142D → N1 PublicationCorresponds to variant dbSNP:rs142863601EnsemblClinVar.1
Natural variantiVAR_026394170L → S in BBS10. 1 PublicationCorresponds to variant dbSNP:rs780916348Ensembl.1
Natural variantiVAR_066254188K → T in BBS10; associated with V-636. 1 Publication1
Natural variantiVAR_026395195C → W in BBS10. 1 Publication1
Natural variantiVAR_026396197Y → C in BBS10. 1 PublicationCorresponds to variant dbSNP:rs756632517EnsemblClinVar.1
Natural variantiVAR_026397240V → G in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 8% of wild-type. 2 Publications1
Natural variantiVAR_066255255M → I Found in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139658279EnsemblClinVar.1
Natural variantiVAR_066256296A → T Found in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS1; rare variant; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs150587582Ensembl.1
Natural variantiVAR_026398308L → F in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 Publications1
Natural variantiVAR_026399311S → A in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 19% of wild-type. 3 PublicationsCorresponds to variant dbSNP:rs137852837EnsemblClinVar.1
Natural variantiVAR_026400329S → L in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12; 15% of wild-type. 2 PublicationsCorresponds to variant dbSNP:rs1000990130Ensembl.1
Natural variantiVAR_026401363P → L in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 PublicationsCorresponds to variant dbSNP:rs938066133Ensembl.1
Natural variantiVAR_026402376L → F. Corresponds to variant dbSNP:rs11109474Ensembl.1
Natural variantiVAR_066257410H → Q in BBS10. 1 Publication1
Natural variantiVAR_026403414L → S in BBS10. 2 PublicationsCorresponds to variant dbSNP:rs786204575EnsemblClinVar.1
Natural variantiVAR_052272539P → L1 PublicationCorresponds to variant dbSNP:rs35676114EnsemblClinVar.1
Natural variantiVAR_079367559 – 723Missing in BBS10; unknown pathological significance. 1 PublicationAdd BLAST165
Natural variantiVAR_026404579K → R in BBS10. 1 PublicationCorresponds to variant dbSNP:rs141521925EnsemblClinVar.1
Natural variantiVAR_066258600L → S in BBS10. 1 Publication1
Natural variantiVAR_026405613Y → C in BBS10. 1 PublicationCorresponds to variant dbSNP:rs575957641EnsemblClinVar.1
Natural variantiVAR_026406613Y → H in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 PublicationsCorresponds to variant dbSNP:rs141647931Ensembl.1
Natural variantiVAR_066259636A → V in BBS10; associated with T-188. 1 PublicationCorresponds to variant dbSNP:rs113224628Ensembl.1
Natural variantiVAR_079368658 – 723Missing in BBS10; unknown pathological significance. 1 PublicationAdd BLAST66
Natural variantiVAR_026407677G → V in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 Publications1
Natural variantiVAR_066260687L → P in BBS10. 1 Publication1
Natural variantiVAR_026408689T → P in BBS10; has moderately reduced ability to interact with BBS7 and BBS9. 2 PublicationsCorresponds to variant dbSNP:rs759387000EnsemblClinVar.1
Natural variantiVAR_066261715H → R1 PublicationCorresponds to variant dbSNP:rs769179905EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ8TAM1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122851, 18 interactors
CORUMiQ8TAM1
DIPiDIP-60347N
IntActiQ8TAM1, 22 interactors
MINTiQ8TAM1
STRINGi9606.ENSP00000376946

PTM databases

iPTMnetiQ8TAM1
PhosphoSitePlusiQ8TAM1

Polymorphism and mutation databases

BioMutaiBBS10
DMDMi97043964

Proteomic databases

EPDiQ8TAM1
MaxQBiQ8TAM1
PaxDbiQ8TAM1
PeptideAtlasiQ8TAM1
PRIDEiQ8TAM1
ProteomicsDBi73892

Protocols and materials databases

DNASUi79738
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393262; ENSP00000376946; ENSG00000179941
GeneIDi79738
KEGGihsa:79738
UCSCiuc001syd.2 human

Organism-specific databases

CTDi79738
DisGeNETi79738
EuPathDBiHostDB:ENSG00000179941.6
GeneCardsiBBS10
GeneReviewsiBBS10
H-InvDBiHIX0010839
HGNCiHGNC:26291 BBS10
HPAiHPA047954
HPA058743
MalaCardsiBBS10
MIMi610148 gene
615987 phenotype
neXtProtiNX_Q8TAM1
OpenTargetsiENSG00000179941
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA143485387
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0360 Eukaryota
COG0459 LUCA
GeneTreeiENSGT00390000002417
HOGENOMiHOG000050242
HOVERGENiHBG055802
InParanoidiQ8TAM1
KOiK19401
OMAiAKTFIIF
OrthoDBiEOG091G0H6P
PhylomeDBiQ8TAM1
TreeFamiTF335867

Enzyme and pathway databases

ReactomeiR-HSA-5620922 BBSome-mediated cargo-targeting to cilium

Miscellaneous databases

ChiTaRSiBBS10 human
GeneWikiiBBS10
GenomeRNAii79738
PROiPR:Q8TAM1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179941 Expressed in 199 organ(s), highest expression level in brain
CleanExiHS_BBS10
GenevisibleiQ8TAM1 HS

Family and domain databases

Gene3Di1.10.560.10, 2 hits
3.30.260.10, 1 hit
3.50.7.10, 1 hit
InterProiView protein in InterPro
IPR002423 Cpn60/TCP-1
IPR027409 GroEL-like_apical_dom_sf
IPR027413 GROEL-like_equatorial_sf
IPR027410 TCP-1-like_intermed_sf
PfamiView protein in Pfam
PF00118 Cpn60_TCP1, 2 hits
SUPFAMiSSF48592 SSF48592, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBBS10_HUMAN
AccessioniPrimary (citable) accession number: Q8TAM1
Secondary accession number(s): Q96CW2, Q9H5D2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 16, 2006
Last modified: November 7, 2018
This is version 144 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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