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HUMAN:BBS12
Contents |
| Species (Taxon ID) | Homo sapiens (Human). (taxon:9606) | |
| Gene Name(s) | BBS12 ( synonyms: C4orf24 ) | |
| Protein Name(s) |
| |
| External Links | ||
| UniProt Identifier | BBS12_HUMAN | |
| UniProt Accessions | Q6ZW61, D3DNX5, Q7Z342, Q7Z482, Q8NAB8, | |
| EMBL | AK092949, AK123553, BX538148, AC053545, CH471056, CH471056, BC055426, | |
| RefSeq | NP_001171478.1, NP_689831.2, | |
| Ensembl | ENST00000314218, | |
| Pfam | PF00118, | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0005929 |
cilium |
IEA: Inferred from Electronic Annotation |
C |
Source: UniProtKB-SubCell |
||||
| GO:0005524 |
ATP binding |
IEA: Inferred from Electronic Annotation |
F |
Source: InterPro |
||||
| GO:0005515 |
protein binding |
IEA: Inferred from Electronic Annotation |
F |
Source: InterPro |
||||
| GO:0044267 |
cellular protein metabolic process |
IEA: Inferred from Electronic Annotation |
P |
Source: InterPro |
||||
| GO:0005932 |
microtubule basal body |
IDA: Inferred from Direct Assay |
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 |
IPI: Inferred from Physical Interaction |
|
F |
Fig 1 A interactions between bbs6, bbs10 and bbs12. |
complete | ||
| GO:0042384 |
cilium assembly |
IMP: Inferred from Mutant Phenotype |
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 |
IPI: Inferred from Physical Interaction |
|
F |
Fig 1 A interactions between bbs6, bbs10 and bbs12. |
complete | ||
| GO:0035356 |
cellular triglyceride homeostasis |
IMP: Inferred from Mutant Phenotype |
P |
Fig. 6C: Increased intracellular triglyceride accumulation in cultured adipocytes of BBS patient fibroblasts stained with Adipored Assay Reagent. |
complete | |||
| GO:0005524 |
ATP binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0005929 |
cilium |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0005929 |
cilium |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0066 |
C |
||||
| GO:0042995 |
cell projection |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0044267 |
cellular protein metabolic process |
IEA: Inferred from Electronic Annotation |
P |
| ||||
| edit table |
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 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
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