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BBS1 [cytosol]
Stable Identifier
R-HSA-5617640
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
GO Cellular Component
ciliary basal body
(0036064)
Locations in the PathwayBrowser for interactor UniProt:P68104 EEF1A1
Expand all
Organelle biogenesis and maintenance (Homo sapiens)
Cilium Assembly (Homo sapiens)
Cargo trafficking to the periciliary membrane (Homo sapiens)
BBSome-mediated cargo-targeting to cilium (Homo sapiens)
Formation of the BBSome (Homo sapiens)
BBS1 [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q8NFJ9 BBS1
Gene Names
BBS1, BBS2L2
Chain
initiator methionine:1, chain:2-593
Reference Genes
BioGPS Gene:582 BBS1
COSMIC (genes):BBS1 BBS1
CTD Gene:582 BBS1
dbSNP Gene:582 BBS1
ENSEMBL:ENSG00000174483 BBS1
HGNC:966 BBS1
KEGG Gene (Homo sapiens):582 BBS1
Monarch:582 BBS1
NCBI Gene:582 BBS1
OMIM:209901 BBS1
UCSC:Q8NFJ9 BBS1
Reference Transcript
RefSeq:NM_024649.4 BBS1
Other Identifiers
0002680692
11719453_a_at
11719454_a_at
11719455_x_at
11749359_a_at
11760788_a_at
11760789_x_at
11762231_x_at
16727462
218471_s_at
222643_s_at
3336278
3336279
3336281
3336282
3336283
3336284
3336285
3336287
3336289
3336290
3336292
3336297
3336299
3336300
3336301
3336303
3336304
3336306
3336307
3336308
3336309
3336310
3336311
3336317
53099_at
582
65526_at
7941639
A_14_P132172
A_23_P150267
A_24_P184305
A_33_P3316480
GE88619
GO:0001103
GO:0003674
GO:0005113
GO:0005119
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005813
GO:0005815
GO:0005829
GO:0005856
GO:0005886
GO:0005929
GO:0005930
GO:0006810
GO:0007601
GO:0007608
GO:0008134
GO:0008150
GO:0015031
GO:0016020
GO:0016192
GO:0022607
GO:0030030
GO:0032991
GO:0034464
GO:0036064
GO:0042592
GO:0042995
GO:0043001
GO:0043226
GO:0045494
GO:0050877
GO:0050896
GO:0060170
GO:0060271
GO:0061512
GO:1905515
HMNXSV003027322
HMNXSV003049281
Hs.54890.0.A1_3p_a_at
Hs.54890.0.A1_3p_x_at
ILMN_1800590
PH_hs_0031688
TC11003432.hg
g13375892_3p_a_at
Participates
as an input of
Formation of the BBSome (Homo sapiens)
as a component of
BBSome [cytosol] (Homo sapiens)
Inferred To
Bbs1 [cytosol]
(Mus musculus)
Bbs1 [cytosol]
(Rattus norvegicus)
BBS1 [cytosol]
(Bos taurus)
BBS1 [cytosol]
(Canis familiaris)
BBS1 [cytosol]
(Drosophila melanogaster)
BBS1 [cytosol]
(Sus scrofa)
Ghost homologue of BBS1 [cytosol]
(Gallus gallus)
bbs1 [cytosol]
(Danio rerio)
bbs-1 [cytosol]
(Caenorhabditis elegans)
Cross References
RefSeq
NP_078925.3
OpenTargets
ENSG00000174483
HPA
ENSG00000174483-BBS1
GeneCards
Q8NFJ9
Ensembl
ENSG00000174483
,
ENST00000318312
,
ENSP00000377563
,
ENST00000393994
,
ENSP00000317469
PRO
Q8NFJ9
Pharos - Targets
Q8NFJ9
Orphanet
15352
PDB
6XT9
Interactors (18)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q3SYG4 BBS9
1
BBS9 [cytosol]
(R-HSA-5617630)
0.901
13
UniProt:Q96RK4 BBS4
1
BBS4 [cytosol]
(R-HSA-5617635)
0.859
9
UniProt:Q8IWZ6 BBS7
1
BBS7 [cytosol]
(R-HSA-5617632)
0.846
8
UniProt:Q8N3I7 BBS5
1
BBS5 [cytosol]
(R-HSA-5617633)
0.823
8
UniProt:Q9BXC9 BBS2
1
BBS2 [cytosol]
(R-HSA-5617637)
0.801
9
UniProt:Q8TAM2 TTC8
1
TTC8 [cytosol]
(R-HSA-5617600)
0.771
5
UniProt:Q99497 PARK7
7
monoSUMO1-K130-PARK7 [nucleoplasm]
(R-HSA-4085351)
PARK7 [nucleoplasm]
(R-HSA-3900141)
PolyUb-Misfolded PARK7 [late endosome lumen]
(R-HSA-9660005)
Misfolded PARK7 [cytosol]
(R-HSA-9641100)
Ub-Misfolded PARK7 [cytosol]
(R-HSA-9641123)
PolyUb-Misfolded PARK7 [cytosol]
(R-HSA-9641128)
PolyUb-Misfolded PARK7 [lysosomal lumen]
(R-HSA-9659997)
0.666
4
UniProt:Q9H0F7 ARL6
2
ARL6 [cilium]
(R-HSA-5617766)
ARL6 [plasma membrane]
(R-HSA-5624078)
0.649
4
UniProt:Q9H0F7-1 ARL6
0.618
3
UniProt:Q15154 PCM1
1
PCM1 [cytosol]
(R-HSA-380308)
0.573
2
UniProt:Q15051 IQCB1
1
IQCB1 [cytosol]
(R-HSA-5626648)
0.571
4
UniProt:Q14203-5 DCTN1
0.556
3
UniProt:P05062 ALDOB
3
ALDOB A174D [cytosol]
(R-HSA-5656456)
ALDOB A149P [cytosol]
(R-HSA-5656457)
ALDOB [cytosol]
(R-HSA-70339)
0.543
4
UniProt:P61006 RAB8A
6
GGC-RAB8A [cytoplasmic vesicle membrane]
(R-HSA-1445093)
RAB8A [recycling endosome membrane]
(R-HSA-8854145)
RAB8A [Golgi membrane]
(R-HSA-2562535)
RAB8A [cytosol]
(R-HSA-5623399)
GGC-RAB8A [cytosol]
(R-HSA-8874063)
GGC-RAB8A [trans-Golgi network membrane]
(R-HSA-8876082)
0.508
2
UniProt:Q6PI48 DARS2
1
DARS2 [mitochondrial matrix]
(R-HSA-379679)
0.508
2
UniProt:Q9BV68 RNF126
1
RNF126 [cytosol]
(R-HSA-8851642)
0.508
2
UniProt:P68104 EEF1A1
7
EEF1A1 [lysosomal membrane]
(R-HSA-9626022)
EEF1A1 [cytosol]
(R-HSA-156905)
EEF1A1 [ficolin-1-rich granule lumen]
(R-HSA-6801528)
EEF1A1 [extracellular region]
(R-HSA-6806456)
EEF1A1 [secretory granule lumen]
(R-HSA-6801479)
Me3K318-EEF1A1 [cytosol]
(R-HSA-8932419)
Me3K79-EEF1A1 [cytosol]
(R-HSA-8932212)
0.508
3
UniProt:P48356-1 Lepr
2
p-Y985,Y1077,Y1138-Lepr [plasma membrane]
(R-MMU-2586509)
Lepr (long isoform) [plasma membrane]
(R-MMU-2586522)
0.463
3
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