HUMAN:BBS1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	BBS1 (synonyms: BBS2L2)
Protein Name(s)	Bardet-Biedl syndrome 1 protein BBS2-like protein 2
External Links
UniProt	Q8NFJ9
EMBL	AF503941 AK027645 AP002748 BC109064 BC109065
CCDS	CCDS8142.1
RefSeq	NP_078925.3
UniGene	Hs.502915
ProteinModelPortal	Q8NFJ9
BioGrid	107058
DIP	DIP-46564N
IntAct	Q8NFJ9
STRING	9606.ENSP00000353701
PhosphoSite	Q8NFJ9
DMDM	38257662
MaxQB	Q8NFJ9
PaxDb	Q8NFJ9
PRIDE	Q8NFJ9
Ensembl	ENST00000318312 ENST00000393994
GeneID	582
KEGG	hsa:582
UCSC	uc001oii.1 uc001oij.1 uc001oil.1
CTD	582
GeneCards	GC11P066276
GeneReviews	BBS1
HGNC	HGNC:966
HPA	HPA058283
MIM	209900 209901
neXtProt	NX_Q8NFJ9
Orphanet	110
PharmGKB	PA25275
eggNOG	NOG84787
GeneTree	ENSGT00390000005232
HOGENOM	HOG000260890
HOVERGEN	HBG045407
InParanoid	Q8NFJ9
KO	K16746
OMA	SICFGRY
PhylomeDB	Q8NFJ9
TreeFam	TF312892
ChiTaRS	BBS1
GeneWiki	BBS1
GenomeRNAi	582
NextBio	2383
PRO	PR:Q8NFJ9
Proteomes	UP000005640
Bgee	Q8NFJ9
CleanEx	HS_BBS1
ExpressionAtlas	Q8NFJ9
Genevestigator	Q8NFJ9
GO	GO:0034464 GO:0060170 GO:0005737 GO:0005815 GO:0005113 GO:0001103 GO:0005119 GO:0042384 GO:0043001 GO:0035058 GO:0045494 GO:0050896 GO:0001895 GO:0007601
InterPro	IPR028784 IPR011047
PANTHER	PTHR20870:SF0
SUPFAM	SSF50998

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0005929	cilium	PMID:19190184^[1]	ECO:0000314			C		Fig 3A. BBS1 is detected througout the cilium of adipocyte cells stained for another cilium protein.	complete
part_of	GO:0005813	centrosome	PMID:18762586^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0002609)	Seeded From UniProt	complete
involved_in	GO:0061512	protein localization to cilium	PMID:23943788^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	part_of:(CL:0002586) has_direct_input:(UniProtKB:O15078)	Seeded From UniProt	complete
involved_in	GO:0045494	photoreceptor cell maintenance	PMID:17980398^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:17574030^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:1905515	non-motile cilium assembly	PMID:17980398^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:17574030^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0001895	retina homeostasis	PMID:17980398^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:24550735^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0061512	protein localization to cilium	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000466746 UniProtKB:Q8NFJ9 WB:WBGene00000241	P		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000466746 WB:WBGene00000241	C		Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1277215 PANTHER:PTN000466746 UniProtKB:Q8NFJ9	C		Seeded From UniProt	complete
part_of	GO:0005930	axoneme	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000466746 WB:WBGene00000241	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1277215 PANTHER:PTN000466746 UniProtKB:Q8NFJ9	C		Seeded From UniProt	complete
enables	GO:0005119	smoothened binding	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000466746 UniProtKB:Q8NFJ9	F		Seeded From UniProt	complete
enables	GO:0005113	patched binding	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000466746 UniProtKB:Q8NFJ9	F		Seeded From UniProt	complete
involved_in	GO:0043001	Golgi to plasma membrane protein transport	PMID:19150989^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:20080638^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005119	smoothened binding	PMID:22228099^[10]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q99835	F		Seeded From UniProt	complete
enables	GO:0005113	patched binding	PMID:22228099^[10]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q13635	F		Seeded From UniProt	complete
enables	GO:0001103	RNA polymerase II repressing transcription factor binding	PMID:22302990^[11]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q99496	F		Seeded From UniProt	complete
part_of	GO:0034464	BBSome	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR028784	C		Seeded From UniProt	complete
involved_in	GO:1905515	non-motile cilium assembly	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR028784	P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-5624129 Reactome:R-HSA-5624127 Reactome:R-HSA-5624126 Reactome:R-HSA-5624125 Reactome:R-HSA-5617815	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C		Seeded From UniProt	complete
involved_in	GO:0007608	sensory perception of smell	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0552	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
involved_in	GO:0030030	cell projection organization	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0970	P		Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C		Seeded From UniProt	complete
part_of	GO:0005929	cilium	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0969	C		Seeded From UniProt	complete
involved_in	GO:0015031	protein transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0653	P		Seeded From UniProt	complete
involved_in	GO:0007601	visual perception	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0844	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003	C		Seeded From UniProt	complete
involved_in	GO:0050896	response to stimulus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0716	P		Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0206	C		Seeded From UniProt	complete
part_of	GO:0005815	microtubule organizing center	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0048	C		Seeded From UniProt	complete
part_of	GO:0060170	ciliary membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0305	C		Seeded From UniProt	complete
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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
↑ Kamiya, A et al. (2008) Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. Arch. Gen. Psychiatry 65 996-1006 PubMed GONUTS page
↑ Zhang, Y et al. (2014) BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum. Mol. Genet. 23 40-51 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 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
↑ ^5.0 ^5.1 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
↑ Chamling, X et al. (2014) The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 10 e1004083 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Seo, S et al. (2009) Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum. Mol. Genet. 18 1323-31 PubMed GONUTS page
↑ 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
↑ ^10.0 ^10.1 Zhang, Q et al. (2012) BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum. Mol. Genet. 21 1945-53 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

[PMID:19190184-1] 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

[PMID:18762586-2] Kamiya, A et al. (2008) Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. Arch. Gen. Psychiatry 65 996-1006 PubMed GONUTS page

[PMID:23943788-3] Zhang, Y et al. (2014) BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum. Mol. Genet. 23 40-51 PubMed GONUTS page

[PMID:17980398-4] 4.0 ^4.1 ^4.2 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

[PMID:17574030-5] 5.0 ^5.1 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

[PMID:24550735-6] Chamling, X et al. (2014) The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 10 e1004083 PubMed GONUTS page

[PMID:21873635-7] 7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:19150989-8] Seo, S et al. (2009) Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum. Mol. Genet. 18 1323-31 PubMed GONUTS page

[PMID:20080638-9] 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

[PMID:22228099-10] 10.0 ^10.1 Zhang, Q et al. (2012) BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum. Mol. Genet. 21 1945-53 PubMed GONUTS page

[PMID:22302990-11] 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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HUMAN:BBS1

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