HUMAN:BBS4

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	BBS4
Protein Name(s)	Bardet-Biedl syndrome 4 protein
External Links
UniProt	Q96RK4
EMBL	AF359281 AY457143 AK075321 AK303706 AC009712 BC008923 BC027624
CCDS	CCDS10246.1 CCDS58377.1
RefSeq	NP_001239607.1 NP_149017.2
UniGene	Hs.208681
ProteinModelPortal	Q96RK4
SMR	Q96RK4
BioGrid	107060
DIP	DIP-46540N
IntAct	Q96RK4
STRING	9606.ENSP00000268057
PhosphoSite	Q96RK4
DMDM	160359000
MaxQB	Q96RK4
PaxDb	Q96RK4
PRIDE	Q96RK4
DNASU	585
Ensembl	ENST00000268057 ENST00000395205
GeneID	585
KEGG	hsa:585
UCSC	uc002avb.3 uc002avd.3
CTD	585
GeneCards	GC15P072978
GeneReviews	BBS4
H-InvDB	HIX0012411
HGNC	HGNC:969
HPA	HPA039418
MIM	600374 615982
neXtProt	NX_Q96RK4
Orphanet	110
PharmGKB	PA25278
eggNOG	COG0457
GeneTree	ENSGT00530000063455
HOGENOM	HOG000261391
HOVERGEN	HBG024456
InParanoid	Q96RK4
KO	K16531
OMA	LEFDAEM
PhylomeDB	Q96RK4
TreeFam	TF324966
GeneWiki	BBS4
GenomeRNAi	585
NextBio	2391
PRO	PR:Q96RK4
Proteomes	UP000005640
Bgee	Q96RK4
CleanEx	HS_BBS4
ExpressionAtlas	Q96RK4
Genevestigator	Q96RK4
GO	GO:0034464 GO:0034451 GO:0005814 GO:0005813 GO:0036064 GO:0060170 GO:0005929 GO:0031514 GO:0031513 GO:0000242 GO:0043014 GO:0048487 GO:0034452 GO:0003777 GO:0001103 GO:0030534 GO:0048854 GO:0051297 GO:0021987 GO:0042384 GO:0060271 GO:0016358 GO:0045444 GO:0001947 GO:0021766 GO:0046907 GO:0051457 GO:0032402 GO:0008152 GO:0034454 GO:0000226 GO:0000281 GO:0038108 GO:0010629 GO:0003085 GO:0001843 GO:0035058 GO:0045494 GO:0045724 GO:0040018 GO:0071539 GO:0033365 GO:0015031 GO:0060296 GO:0032465 GO:0019216 GO:0001895 GO:0046548 GO:0007608 GO:0050893 GO:0007286 GO:0021756 GO:0007601
Gene3D	1.25.40.10
InterPro	IPR028786 IPR013026 IPR011990 IPR019734
PANTHER	PTHR23083:SF389
Pfam	PF13181
SMART	SM00028
PROSITE	PS50005 PS50293

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0034464	BBSome	PMID:24550735^[1]	ECO:0000314			C		Figure 1 shows how AZI1 was interacting with the BBSome (BBS4). Antibodies were used to block AZT1 interactions and to see the efficient precipitation of BBS4	complete CACAO 9911
	GO:0034464	BBSome	PMID:24550735^[1]	ECO:0000314			C		Figure 4 Shows the results that when decreasing AZI1, BBSome is increased in ciliary localization.	complete CACAO 9913
	GO:0034464	BBSome	PMID:24550735^[1]	ECO:0000314			C		Figure 1	complete CACAO 9915
	GO:0034464	BBSome	PMID:24550735^[1]	ECO:0000314			C		Figure 7 demonstrates a model of when AZI1 is weaken, BBSome complex is available to enter the cilia. This is compared to if AZI1 is not weaken as well.	complete CACAO 9917
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
part_of	GO:0034464	BBSome	PMID:24550735^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005929	cilium	PMID:23943788^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0002586)	Seeded From UniProt	complete
part_of	GO:0034451	centriolar satellite	PMID:23943788^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0002586)	Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	PMID:23943788^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0002586)	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:0046907	intracellular transport	PMID:16399798^[4]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q05AN5	P		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:16399798^[4]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q05AN5	P		Seeded From UniProt	complete
involved_in	GO:0071539	protein localization to centrosome	PMID:15107855^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060296	regulation of cilium beat frequency involved in ciliary motility	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
part_of	GO:0060170	ciliary membrane	PMID:17574030^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0051457	maintenance of protein location in nucleus	PMID:15107855^[5]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:Q15154	P		Seeded From UniProt	complete
involved_in	GO:0048854	brain morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
enables	GO:0048487	beta-tubulin binding	PMID:17574030^[6]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0046548	retinal rod cell development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0045724	positive regulation of cilium assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0045494	photoreceptor cell maintenance	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	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:Q8C1Z7	P		Seeded From UniProt	complete
enables	GO:0043014	alpha-tubulin binding	PMID:17574030^[6]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:15107855^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:18299575^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:1905515	non-motile cilium assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:17574030^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0034454	microtubule anchoring at centrosome	PMID:15107855^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0034452	dynactin binding	PMID:15107855^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0034451	centriolar satellite	PMID:15107855^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0033365	protein localization to organelle	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0032465	regulation of cytokinesis	PMID:15107855^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0032402	melanosome transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q05AN5	P		Seeded From UniProt	complete
part_of	GO:0031514	motile cilium	PMID:18299575^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0097730	non-motile cilium	PMID:17574030^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0030534	adult behavior	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0021987	cerebral cortex development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0021766	hippocampus development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0021756	striatum development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0019216	regulation of lipid metabolic process	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0016358	dendrite development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0007608	sensory perception of smell	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0007286	spermatid development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
part_of	GO:0005814	centriole	PMID:15107855^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:14520415^[8]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0001947	heart looping	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q05AN5	P		Seeded From UniProt	complete
involved_in	GO:0001895	retina homeostasis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0001843	neural tube closure	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0000281	mitotic cytokinesis	PMID:15107855^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0000242	pericentriolar material	PMID:15107855^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0000226	microtubule cytoskeleton organization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8C1Z7	P		Seeded From UniProt	complete
involved_in	GO:0007098	centrosome cycle	PMID:15107855^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:24550735^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0034451	centriolar satellite	PMID:24550735^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005929	cilium	PMID:24550735^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:24550735^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0003777	microtubule motor activity	PMID:15107855^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0000242	pericentriolar material	PMID:15107855^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		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
part_of	GO:0005813	centrosome	PMID:22500027^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		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:0005829	cytosol	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0051457	C		Seeded From UniProt	complete
involved_in	GO:0071539	protein localization to centrosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:D4A8B1 ensembl:ENSRNOP00000030021	P		Seeded From UniProt	complete
involved_in	GO:1905515	non-motile cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:1903546	protein localization to photoreceptor outer segment	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:1902855	regulation of non-motile cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0060613	fat pad development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0060324	face development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0060296	regulation of cilium beat frequency involved in ciliary motility	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0051492	regulation of stress fiber assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0048854	brain morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0046548	retinal rod cell development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0045724	positive regulation of cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0045494	photoreceptor cell maintenance	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	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:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0044321	response to leptin	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0040018	positive regulation of multicellular organism growth	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0035845	photoreceptor cell outer segment organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0035176	social behavior	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
part_of	GO:0034464	BBSome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	C		Seeded From UniProt	complete
part_of	GO:0034451	centriolar satellite	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	C		Seeded From UniProt	complete
involved_in	GO:0034260	negative regulation of GTPase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0033365	protein localization to organelle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0033210	leptin-mediated signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
part_of	GO:0032391	photoreceptor connecting cilium	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	C		Seeded From UniProt	complete
part_of	GO:0031514	motile cilium	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	C		Seeded From UniProt	complete
involved_in	GO:0030837	negative regulation of actin filament polymerization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0030534	adult behavior	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0021987	cerebral cortex development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0021766	hippocampus development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0021756	striatum development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0021591	ventricular system development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0019216	regulation of lipid metabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0016358	dendrite development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	C		Seeded From UniProt	complete
involved_in	GO:0010629	negative regulation of gene expression	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0008104	protein localization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0007608	sensory perception of smell	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0007286	spermatid development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	C		Seeded From UniProt	complete
involved_in	GO:0003085	negative regulation of systemic arterial blood pressure	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
part_of	GO:0001917	photoreceptor inner segment	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	C		Seeded From UniProt	complete
involved_in	GO:0001895	retina homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0001843	neural tube closure	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0001764	neuron migration	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
part_of	GO:0001750	photoreceptor outer segment	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	C		Seeded From UniProt	complete
involved_in	GO:0000226	microtubule cytoskeleton organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8C1Z7 ensembl:ENSMUSP00000026265	P		Seeded From UniProt	complete
involved_in	GO:0050893	sensory processing	PMID:14520415^[8]	ECO:0000304	author statement supported by traceable reference used in manual assertion		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: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: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: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 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0969 UniProtKB-SubCell:SL-0066	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
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:0031514	motile cilium	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0282 UniProtKB-SubCell:SL-0117	C		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
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
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
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
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 ^1.8 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
↑ 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
↑ ^3.0 ^3.1 ^3.2 ^3.3 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 Yen, HJ et al. (2006) Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum. Mol. Genet. 15 667-77 PubMed GONUTS page
↑ ^5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 ^5.11 ^5.12 Kim, JC et al. (2004) The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat. Genet. 36 462-70 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 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
↑ ^7.0 ^7.1 Shah, AS et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc. Natl. Acad. Sci. U.S.A. 105 3380-5 PubMed GONUTS page
↑ ^8.0 ^8.1 Ansley, SJ et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425 628-33 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
↑ Zhang, Q et al. (2012) Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J. Biol. Chem. 287 20625-35 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:24550735-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 ^1.8 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: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] 3.0 ^3.1 ^3.2 ^3.3 Zhang, Y et al. (2014) BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum. Mol. Genet. 23 40-51 PubMed GONUTS page

[PMID:16399798-4] 4.0 ^4.1 Yen, HJ et al. (2006) Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum. Mol. Genet. 15 667-77 PubMed GONUTS page

[PMID:15107855-5] 5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 ^5.11 ^5.12 Kim, JC et al. (2004) The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat. Genet. 36 462-70 PubMed GONUTS page

[PMID:17574030-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 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

[PMID:18299575-7] 7.0 ^7.1 Shah, AS et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc. Natl. Acad. Sci. U.S.A. 105 3380-5 PubMed GONUTS page

[PMID:14520415-8] 8.0 ^8.1 Ansley, SJ et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425 628-33 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:22500027-10] Zhang, Q et al. (2012) Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J. Biol. Chem. 287 20625-35 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:BBS4

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