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HUMAN:BBS10
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | BBS10 (synonyms: C12orf58) | |
| Protein Name(s) | Bardet-Biedl syndrome 10 protein | |
| External Links | ||
| UniProt | Q8TAM1 | |
| EMBL | BC013795 BC026355 AK027213 | |
| CCDS | CCDS9014.2 | |
| RefSeq | NP_078961.3 | |
| UniGene | Hs.96322 | |
| ProteinModelPortal | Q8TAM1 | |
| SMR | Q8TAM1 | |
| BioGrid | 122851 | |
| DIP | DIP-60347N | |
| IntAct | Q8TAM1 | |
| MINT | MINT-8247383 | |
| STRING | 9606.ENSP00000376946 | |
| PhosphoSite | Q8TAM1 | |
| DMDM | 97043964 | |
| MaxQB | Q8TAM1 | |
| PaxDb | Q8TAM1 | |
| PRIDE | Q8TAM1 | |
| DNASU | 79738 | |
| Ensembl | ENST00000393262 | |
| GeneID | 79738 | |
| KEGG | hsa:79738 | |
| UCSC | uc001syd.1 | |
| CTD | 79738 | |
| GeneCards | GC12M076738 | |
| GeneReviews | BBS10 | |
| H-InvDB | HIX0010839 | |
| HGNC | HGNC:26291 | |
| HPA | HPA047954 HPA058743 | |
| MIM | 610148 615987 | |
| neXtProt | NX_Q8TAM1 | |
| Orphanet | 110 | |
| PharmGKB | PA143485387 | |
| eggNOG | COG0459 | |
| GeneTree | ENSGT00390000002417 | |
| HOGENOM | HOG000050242 | |
| HOVERGEN | HBG055802 | |
| InParanoid | Q8TAM1 | |
| OMA | CVLPVGG | |
| OrthoDB | EOG7SXW5J | |
| PhylomeDB | Q8TAM1 | |
| TreeFam | TF335867 | |
| ChiTaRS | BBS10 | |
| GeneWiki | BBS10 | |
| GenomeRNAi | 79738 | |
| NextBio | 69134 | |
| PRO | PR:Q8TAM1 | |
| Proteomes | UP000005640 | |
| Bgee | Q8TAM1 | |
| CleanEx | HS_BBS10 | |
| Genevestigator | Q8TAM1 | |
| GO | GO:0005929 GO:0005524 GO:0001103 GO:0044267 GO:0051131 GO:0035058 GO:0045494 GO:0043254 GO:0050896 GO:0001895 GO:0007601 | |
| Gene3D | 1.10.560.10 | |
| InterPro | IPR002423 IPR027413 | |
| Pfam | PF00118 | |
| SUPFAM | SSF48592 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
| GO:0005932 |
microtubule basal body |
ECO:0000314 |
C |
Fig 1. human primary renal proximal tubular epithelial cells with immunolabelled labelled cilium showed the basal body, and immunodetection of BBS10 showed localisation to the basal body of the primary cilium. |
complete | |||||
| GO:0042384 |
cilium assembly |
ECO:0000315 |
P |
Fig 4. Cilium formation inhibited upon BBS10 knockdown, given localisation and predicted chaperonine function they assist the formation of ciliary components not directly involved in intragellar transport. |
complete | |||||
| GO:0005814 |
centriole |
ECO:0000270 |
C |
Fig 1B. human adipocyte cells with immunolabelled labelled centrioles and immunodetection of BBS10 showed localisation to the centrioles. |
complete | |||||
| GO:0005515 |
protein binding |
ECO:0000021 |
|
F |
Fig 1: A Interactions between BBS6, BBS10 and BBS12 using co-IP assay. |
complete | ||||
| GO:0035356 |
cellular triglyceride homeostasis |
ECO:0000315 |
P |
Fig. 6C: Fluorescent staining showed increased triglyceride accumulation in BBS patient cultured fibroblasts. |
complete | |||||
|
involved_in |
GO:0045494 |
photoreceptor cell maintenance |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:1905515 |
non-motile cilium assembly |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0001895 |
retina homeostasis |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0051131 |
chaperone-mediated protein complex assembly |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0043254 |
regulation of protein complex assembly |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0001103 |
RNA polymerase II repressing transcription factor binding |
ECO:0000353 |
physical interaction evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0005524 |
ATP binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:0000166 |
nucleotide binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0050896 |
response to stimulus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0005524 |
ATP binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0042995 |
cell projection |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007601 |
visual perception |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005929 |
cilium |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 Marion, V et al. (2009) Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc. Natl. Acad. Sci. U.S.A. 106 1820-5 PubMed GONUTS page
- ↑ 2.0 2.1 Seo, S et al. (2010) BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc. Natl. Acad. Sci. U.S.A. 107 1488-93 PubMed GONUTS page
- ↑ 3.0 3.1 3.2 Gerth, C et al. (2008) Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. Vision Res. 48 392-9 PubMed GONUTS page
- ↑ Zhang, Q et al. (2012) Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J. Biol. Chem. 287 20625-35 PubMed GONUTS page
- ↑ Gascue, C et al. (2012) Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. J. Cell. Sci. 125 362-75 PubMed GONUTS page
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