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HUMAN:BBS12
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | BBS12 (synonyms: C4orf24) | |
| Protein Name(s) | Bardet-Biedl syndrome 12 protein | |
| External Links | ||
| UniProt | Q6ZW61 | |
| EMBL | AK092949 AK123553 BX538148 AC053545 CH471056 CH471056 BC055426 | |
| CCDS | CCDS3728.1 | |
| RefSeq | NP_001171478.1 NP_689831.2 | |
| UniGene | Hs.400698 | |
| ProteinModelPortal | Q6ZW61 | |
| DIP | DIP-60348N | |
| IntAct | Q6ZW61 | |
| STRING | 9606.ENSP00000319062 | |
| PhosphoSite | Q6ZW61 | |
| DMDM | 296434408 | |
| PaxDb | Q6ZW61 | |
| PRIDE | Q6ZW61 | |
| Ensembl | ENST00000314218 ENST00000542236 | |
| GeneID | 166379 | |
| KEGG | hsa:166379 | |
| UCSC | uc003ieu.3 | |
| CTD | 166379 | |
| GeneCards | GC04P123653 | |
| GeneReviews | BBS12 | |
| H-InvDB | HIX0018635 | |
| HGNC | HGNC:26648 | |
| MIM | 610683 615989 | |
| neXtProt | NX_Q6ZW61 | |
| Orphanet | 110 | |
| PharmGKB | PA162377350 | |
| eggNOG | NOG39264 | |
| GeneTree | ENSGT00390000008984 | |
| HOGENOM | HOG000294113 | |
| HOVERGEN | HBG107495 | |
| InParanoid | Q6ZW61 | |
| OMA | HESVLIS | |
| OrthoDB | EOG7T1RB6 | |
| PhylomeDB | Q6ZW61 | |
| TreeFam | TF330844 | |
| GeneWiki | BBS12 | |
| GenomeRNAi | 166379 | |
| NextBio | 88593 | |
| PRO | PR:Q6ZW61 | |
| Proteomes | UP000005640 | |
| Bgee | Q6ZW61 | |
| CleanEx | HS_BBS12 | |
| ExpressionAtlas | Q6ZW61 | |
| Genevestigator | Q6ZW61 | |
| GO | GO:0005929 GO:0005524 GO:0044267 GO:0051131 GO:0042755 GO:0042073 GO:0045599 GO:0045494 | |
| Gene3D | 1.10.560.10 3.50.7.10 | |
| InterPro | IPR002423 IPR027409 IPR027413 | |
| PANTHER | PTHR11353 | |
| Pfam | PF00118 | |
| SUPFAM | SSF48592 SSF52029 | |
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 1A. human primary renal proximal tubular epithelial cells with immunolabelled cilium showed BBS12 was localised to the basal body of the primary cilium |
complete | |||||
| GO:0005515 |
protein binding |
ECO:0000021 |
|
F |
Fig 1 A interactions between bbs6, bbs10 and bbs12. |
complete | ||||
| GO:0042384 |
cilium assembly |
ECO:0000315 |
P |
Fig 4. Cilium formation inhibited upon BBS12 knockdown, given localisation and predicted chaperonine function they assist the formation of ciliary components not directly involved in intragellar transport. |
complete | |||||
| GO:0005515 |
protein binding |
ECO:0000021 |
|
F |
Fig 1 A interactions between bbs6, bbs10 and bbs12. |
complete | ||||
| GO:0035356 |
cellular triglyceride homeostasis |
ECO:0000315 |
P |
Fig. 6C: Increased intracellular triglyceride accumulation in cultured adipocytes of BBS patient fibroblasts stained with Adipored Assay Reagent. |
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:0045599 |
negative regulation of fat cell differentiation |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0045599 |
negative regulation of fat cell differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q5SUD9 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0045494 |
photoreceptor cell maintenance |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q5SUD9 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0042755 |
eating behavior |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q5SUD9 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0042073 |
intraciliary transport |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:Q5SUD9 |
P |
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 | |||
|
part_of |
GO:0042995 |
cell projection |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
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 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 2.2 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
- ↑ Marion, V et al. (2012) BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. Cell Metab. 16 363-77 PubMed GONUTS page
