HUMAN:BBS7

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	BBS7 (synonyms: BBS2L1)
Protein Name(s)	Bardet-Biedl syndrome 7 protein BBS2-like protein 1
External Links
UniProt	Q8IWZ6
EMBL	AF521643 AF521644 AK001577 AC079341 BC032691
CCDS	CCDS3724.1 CCDS54799.1
RefSeq	NP_060660.2 NP_789794.1
UniGene	Hs.591694
ProteinModelPortal	Q8IWZ6
BioGrid	120508
DIP	DIP-46566N
IntAct	Q8IWZ6
STRING	9606.ENSP00000264499
PhosphoSite	Q8IWZ6
DMDM	90110978
MaxQB	Q8IWZ6
PaxDb	Q8IWZ6
PRIDE	Q8IWZ6
DNASU	55212
Ensembl	ENST00000264499 ENST00000506636
GeneID	55212
KEGG	hsa:55212
UCSC	uc003ied.3
CTD	55212
GeneCards	GC04M122745
GeneReviews	BBS7
HGNC	HGNC:18758
HPA	HPA044592
MIM	607590 615984
neXtProt	NX_Q8IWZ6
Orphanet	110
PharmGKB	PA134923753
eggNOG	NOG72192
GeneTree	ENSGT00390000012346
HOGENOM	HOG000022374
HOVERGEN	HBG045408
InParanoid	Q8IWZ6
KO	K16749
OMA	KPIHKWE
OrthoDB	EOG7CNZG6
PhylomeDB	Q8IWZ6
TreeFam	TF315013
GeneWiki	BBS7
GenomeRNAi	55212
NextBio	59158
PRO	PR:Q8IWZ6
Proteomes	UP000005640
Bgee	Q8IWZ6
CleanEx	HS_BBS7
ExpressionAtlas	Q8IWZ6
Genevestigator	Q8IWZ6
GO	GO:0005930 GO:0034464 GO:0005813 GO:0036064 GO:0060170 GO:0005634 GO:0001103 GO:0007420 GO:0060271 GO:0007368 GO:0048546 GO:0001654 GO:0045444 GO:0001947 GO:0060173 GO:0032402 GO:0035058 GO:0060021 GO:0051877 GO:0032436 GO:0015031 GO:0006357 GO:0007224 GO:0007601
Gene3D	2.130.10.10
InterPro	IPR016575 IPR015943 IPR017986
PIRSF	PIRSF011091
SUPFAM	SSF50978

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:0060271	cilium assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q08C18	P	Seeded From UniProt	complete
involved_in	GO:0051877	pigment granule aggregation in cell center	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q08C18	P	Seeded From UniProt	complete
involved_in	GO:0048546	digestive tract morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q08C18	P	Seeded From UniProt	complete
involved_in	GO:0045444	fat cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8K2G4	P	Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:17574030^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0032402	melanosome transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q08C18	P	Seeded From UniProt	complete
involved_in	GO:0007368	determination of left/right symmetry	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q08C18	P	Seeded From UniProt	complete
involved_in	GO:0001947	heart looping	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q08C18	P	Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:24550735^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:21399614^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0046907	intracellular transport	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000412421 ZFIN:ZDB-GENE-030219-90	P	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1918742 PANTHER:PTN000412421 WB:WBGene00003892	C	Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1918742 PANTHER:PTN000412421 UniProtKB:Q8IWZ6	C	Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1918742 PANTHER:PTN000412421	C	Seeded From UniProt	complete
involved_in	GO:0008104	protein localization	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1918742 PANTHER:PTN000412421	P	Seeded From UniProt	complete
part_of	GO:0005930	axoneme	PMID:21873635^[4]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1918742 PANTHER:PTN000412421	C	Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:20080638^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	PMID:22302990^[6]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q99496	P	Seeded From UniProt	complete
involved_in	GO:0006357	regulation of transcription by RNA polymerase II	PMID:22302990^[6]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q99496	P	Seeded From UniProt	complete
enables	GO:0001103	RNA polymerase II repressing transcription factor binding	PMID:22302990^[6]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q99496	F	Seeded From UniProt	complete
involved_in	GO:1903929	primary palate development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	P	Seeded From UniProt	complete
involved_in	GO:0060173	limb development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	P	Seeded From UniProt	complete
involved_in	GO:0045444	fat cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	P	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	C	Seeded From UniProt	complete
part_of	GO:0034464	BBSome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	C	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	C	Seeded From UniProt	complete
involved_in	GO:0008104	protein localization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	P	Seeded From UniProt	complete
involved_in	GO:0007507	heart development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	P	Seeded From UniProt	complete
involved_in	GO:0007420	brain development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	P	Seeded From UniProt	complete
involved_in	GO:0007224	smoothened signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	P	Seeded From UniProt	complete
part_of	GO:0005930	axoneme	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	C	Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	C	Seeded From UniProt	complete
part_of	GO:0001750	photoreceptor outer segment	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	C	Seeded From UniProt	complete
involved_in	GO:0001654	eye development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K2G4 ensembl:ENSMUSP00000103791	P	Seeded From UniProt	complete
part_of	GO:0034464	BBSome	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR016575	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:IPR016575	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
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: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
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
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
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
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
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: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:0005929	cilium	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0969	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.

↑ 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
↑ Jakobsen, L et al. (2011) Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. EMBO J. 30 1520-35 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 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. (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
↑ ^6.0 ^6.1 ^6.2 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:17574030-1] 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:24550735-2] 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:21399614-3] Jakobsen, L et al. (2011) Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. EMBO J. 30 1520-35 PubMed GONUTS page

[PMID:21873635-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 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:20080638-5] 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:22302990-6] 6.0 ^6.1 ^6.2 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:BBS7

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Notes

References

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