MGI:Bbs1

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Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes
	GO:0000226	microtubule cytoskeleton organization	MGI:MGI:3055247 PMID:15322545^[1]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3055491	P	From MGI
	GO:0001895	retina homeostasis	MGI:MGI:3055247 PMID:15322545^[1]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3055491	P	From MGI
	GO:0001895	retina homeostasis	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q8NFJ9	P	From MGI
	GO:0005102	receptor binding	MGI:MGI:3836843 PMID:19150989^[2]	IPI: Inferred from Physical Interaction	UniProtKB:P48356	F	From MGI
	GO:0005622	intracellular	MGI:MGI:3836843 PMID:19150989^[2]	ISO: Inferred from Sequence Orthology	UniProtKB:Q8NFJ9	C	From MGI
	GO:0007608	sensory perception of smell	MGI:MGI:3055247 PMID:15322545^[1]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3055491	P	From MGI
	GO:0008594	photoreceptor cell morphogenesis	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0009296	flagellum assembly	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0009566	fertilization	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0016358	dendrite development	MGI:MGI:3055247 PMID:15322545^[1]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3055491	P	From MGI
	GO:0021756	striatum development	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0021766	hippocampus development	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0021987	cerebral cortex development	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0030534	adult behavior	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0031514	motile cilium	MGI:MGI:3776933 PMID:18299575^[4]	IMP: Inferred from Mutant Phenotype		C	From MGI
	GO:0034464	BBSome	MGI:MGI:2154458	ISO: Inferred from Sequence Orthology	UniProtKB:Q8NFJ9	C	From MGI
	GO:0034464	BBSome	MGI:MGI:4420847 PMID:20080638^[5]	IDA: Inferred from Direct Assay		C	From MGI
	GO:0035058	nonmotile primary cilium assembly	MGI:MGI:3055247 PMID:15322545^[1]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3055491	P	From MGI
	GO:0035058	nonmotile primary cilium assembly	MGI:MGI:3607949 PMID:16170314^[6]	IGI: Inferred from Genetic Interaction	MGI:MGI:2135272	P	From MGI
	GO:0035058	nonmotile primary cilium assembly	MGI:MGI:3607949 PMID:16170314^[6]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3055491	P	From MGI
	GO:0035058	nonmotile primary cilium assembly	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q8NFJ9	P	From MGI
	GO:0035264	multicellular organism growth	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0042048	olfactory behavior	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0042384	cilium assembly	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0042384	cilium assembly	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q8NFJ9	P	From MGI
	GO:0042445	hormone metabolic process	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0043001	Golgi to plasma membrane protein transport	MGI:MGI:3836843 PMID:19150989^[2]	ISO: Inferred from Sequence Orthology	UniProtKB:Q8NFJ9	P	From MGI
	GO:0044255	cellular lipid metabolic process	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0045494	photoreceptor cell maintenance	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q8NFJ9	P	From MGI
	GO:0048854	brain morphogenesis	MGI:MGI:3767384 PMID:18032602^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:3767672	P	From MGI
	GO:0060271	cilium morphogenesis	MGI:MGI:3776933 PMID:18299575^[4]	IMP: Inferred from Mutant Phenotype		P	From MGI
	GO:0060296	regulation of cilium beat frequency involved in ciliary motility	MGI:MGI:3776933 PMID:18299575^[4]	IMP: Inferred from Mutant Phenotype		P	From MGI
NOT	GO:0042384	cilium assembly	MGI:MGI:3776933 PMID:18299575^[4]	IMP: Inferred from Mutant Phenotype		P	From MGI
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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 Kulaga HM et al. (2004) Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet 36: 994-8 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 Seo S et al. (2009) Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum Mol Genet 18: 1323-31 PubMed GONUTS page
↑ ^3.00 ^3.01 ^3.02 ^3.03 ^3.04 ^3.05 ^3.06 ^3.07 ^3.08 ^3.09 ^3.10 ^3.11 ^3.12 Davis RE et al. (2007) A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A 104: 19422-7 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 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
↑ 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 Ross AJ et al. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet 37: 1135-40 PubMed GONUTS page

[PMID:15322545-0] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 Kulaga HM et al. (2004) Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet 36: 994-8 PubMed GONUTS page

[PMID:19150989-1] 2.0 ^2.1 ^2.2 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:18032602-2] 3.00 ^3.01 ^3.02 ^3.03 ^3.04 ^3.05 ^3.06 ^3.07 ^3.08 ^3.09 ^3.10 ^3.11 ^3.12 Davis RE et al. (2007) A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A 104: 19422-7 PubMed GONUTS page

[PMID:18299575-3] 4.0 ^4.1 ^4.2 ^4.3 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:20080638-4] 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:16170314-5] 6.0 ^6.1 Ross AJ et al. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet 37: 1135-40 PubMed GONUTS page

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Species (Taxon ID)	Mus musculus (house mouse) (taxon:10090)
Gene Name(s)	Bbs1 ( synonyms: D19Ertd609e )
Protein Name(s)	Bardet-Biedl syndrome 1 (human),
External Links
MGI	MGI:1277215

MGI:Bbs1

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