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HUMAN:BBS1
Contents |
| Species (Taxon ID) | Homo sapiens (Human). (taxon:9606) | |
| Gene Name(s) | BBS1 ( synonyms: BBS2L2 ) | |
| Protein Name(s) |
| |
| External Links | ||
| UniProt Identifier | BBS1_HUMAN | |
| UniProt Accessions | Q8NFJ9, Q32MN0, Q96SN4, | |
| EMBL | AF503941, AK027645, BC109064, | |
| RefSeq | NP_078925.3, | |
| IntAct | Q8NFJ9, | |
| Ensembl | ENST00000318312, | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0005929 |
cilium |
IDA: Inferred from Direct Assay |
C |
Fig 3A. BBS1 is detected througout the cilium of adipocyte cells stained for another cilium protein. |
complete | |||
| GO:0001895 |
retina homeostasis |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005737 |
cytoplasm |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0005737 |
cytoplasm |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0086 |
C |
||||
| GO:0005886 |
plasma membrane |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0005929 |
cilium |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0007601 |
visual perception |
IEA: Inferred from Electronic Annotation |
P |
|||||
| GO:0016020 |
membrane |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0034464 |
BBSome |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0035058 |
nonmotile primary cilium assembly |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0042384 |
cilium assembly |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0042995 |
cell projection |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0045494 |
photoreceptor cell maintenance |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0050896 |
response to stimulus |
IEA: Inferred from Electronic Annotation |
P |
|||||
| GO:0060170 |
cilium membrane |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0305 |
C |
| |||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 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 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
- ↑ 3.0 3.1 3.2 3.3 3.4 Nachury MV et al. (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129: 1201-13 PubMed GONUTS page
- ↑ 4.0 4.1 4.2 4.3 4.4 Oeffner F et al. (2008) Novel interaction partners of Bardet-Biedl syndrome proteins. Cell Motil Cytoskeleton 65: 143-55 PubMed GONUTS page
- ↑ 5.0 5.1 Jin H et al. (2010) The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell 141: 1208-19 PubMed GONUTS page
