MOUSE:FTM

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Rpgrip1l (synonyms: Ftm, Nphp8)
Protein Name(s)	Protein fantom Nephrocystin-8 RPGR-interacting protein 1-like protein RPGRIP1-like protein
External Links
UniProt	Q8CG73
EMBL	AJ344253 AC139351 CH466525
CCDS	CCDS22520.1
RefSeq	NP_775607.2
UniGene	Mm.324592
ProteinModelPortal	Q8CG73
SMR	Q8CG73
BioGrid	232664
IntAct	Q8CG73
STRING	10090.ENSMUSP00000042702
PhosphoSite	Q8CG73
MaxQB	Q8CG73
PRIDE	Q8CG73
DNASU	244585
Ensembl	ENSMUST00000047783
GeneID	244585
KEGG	mmu:244585
UCSC	uc009msp.1
CTD	23322
MGI	MGI:1920563
eggNOG	NOG117461
GeneTree	ENSGT00520000055620
HOGENOM	HOG000168391
HOVERGEN	HBG106574
InParanoid	Q8CG73
KO	K16550
OMA	DPQFDDH
OrthoDB	EOG77Q4VX
TreeFam	TF328883
Reactome	REACT_269412
NextBio	386327
PRO	PR:Q8CG73
Proteomes	UP000000589
CleanEx	MM_RPGRIP1L
ExpressionAtlas	Q8CG73
Genevestigator	Q8CG73
GO	GO:0005930 GO:0005911 GO:0005813 GO:0036064 GO:0035869 GO:0005929 GO:0005737 GO:0005923 GO:0007420 GO:0043010 GO:0021549 GO:0042384 GO:0060271 GO:0090102 GO:0022038 GO:0007368 GO:0035115 GO:0035116 GO:0001736 GO:0007163 GO:0060322 GO:0001701 GO:0001822 GO:0021670 GO:0035108 GO:0001889 GO:0045744 GO:0021532 GO:0043584 GO:0021772 GO:0060039 GO:0008589 GO:0021537
Gene3D	2.60.40.150
InterPro	IPR000008 IPR021656
Pfam	PF00168 PF11618
SMART	SM00239
SUPFAM	SSF49562

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0005737	cytoplasm	PMID:21565611^[1]	ECO:0000314			C		Figure 3 A shows that NPHP8 localizes in the cytoplasm.	complete CACAO 7568
part_of	GO:0005737	cytoplasm	PMID:21565611^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0045744	negative regulation of G protein-coupled receptor signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q68CZ1	P		Seeded From UniProt	complete
part_of	GO:0005911	cell-cell junction	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1905515	non-motile cilium assembly	PMID:22832925^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:1000546)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0090102	cochlea development	PMID:22927466^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	occurs_in:(CL:0000202)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060322	head development	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	results_in_development_of:(EMAPA:17798)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060271	cilium assembly	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	occurs_in:(EMAPA:16530)\|occurs_in:(EMAPA:16405)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060039	pericardium development	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	results_in_development_of:(EMAPA:16131)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045744	negative regulation of G protein-coupled receptor signaling pathway	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043584	nose development	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	results_in_development_of:(EMAPA:17604)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043010	camera-type eye development	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043010	camera-type eye development	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	results_in_development_of:(EMAPA:16039)\|results_in_development_of:(EMAPA:16039)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043010	camera-type eye development	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:17553904^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000057)	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:17558409^[5]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1311099	C		Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	PMID:22927466^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17597)	Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1311099	C		Seeded From UniProt	complete
part_of	GO:0035253	ciliary rootlet	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1311099	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0035116	embryonic hindlimb morphogenesis	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	results_in_development_of:(EMAPA:17458)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0035115	embryonic forelimb morphogenesis	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	has_participant:(EMAPA:17412)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0035108	limb morphogenesis	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P		Seeded From UniProt	complete
part_of	GO:0032391	photoreceptor connecting cilium	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1311099	C		Seeded From UniProt	complete
enables	GO:0031870	thromboxane A2 receptor binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	F		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0022038	corpus callosum development	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0021772	olfactory bulb development	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0021670	lateral ventricle development	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0021549	cerebellum development	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0021537	telencephalon development	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0021532	neural tube patterning	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	occurs_in:(EMAPA:16530)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0008589	regulation of smoothened signaling pathway	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	regulates_o_occurs_in:(EMAPA:16405)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007420	brain development	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007420	brain development	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	results_in_development_of:(EMAPA:16039)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007420	brain development	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	results_in_development_of:(EMAPA:16894)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007368	determination of left/right symmetry	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	has_participant:(EMAPA:16105)\|has_participant:(EMAPA:16748)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007163	establishment or maintenance of cell polarity	PMID:22832925^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:1000546)	Seeded From UniProt	complete
part_of	GO:0005930	axoneme	PMID:17558409^[5]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
part_of	GO:0005929	cilium	PMID:17558409^[5]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
part_of	GO:0005911	cell-cell junction	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
part_of	GO:0005879	axonemal microtubule	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1311099	C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:17558409^[5]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:17558409^[5]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q68CZ1	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001889	liver development	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001822	kidney development	PMID:17558409^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001736	establishment of planar polarity	PMID:22927466^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	P	occurs_in:(CL:0000202)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001701	in utero embryonic development	PMID:17553904^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3716208	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:D3Z8G3 ensembl:ENSRNOP00000015876	C		Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:D3Z8G3 ensembl:ENSRNOP00000015876	C		Seeded From UniProt	complete
part_of	GO:0035253	ciliary rootlet	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:D3Z8G3 ensembl:ENSRNOP00000015876	C		Seeded From UniProt	complete
part_of	GO:0032391	photoreceptor connecting cilium	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:D3Z8G3 ensembl:ENSRNOP00000015876	C		Seeded From UniProt	complete
part_of	GO:0005879	axonemal microtubule	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:D3Z8G3 ensembl:ENSRNOP00000015876	C		Seeded From UniProt	complete
involved_in	GO:0045744	negative regulation of G protein-coupled receptor signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q68CZ1 ensembl:ENSP00000493946	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:Q68CZ1 ensembl:ENSP00000493946	C		Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q68CZ1 ensembl:ENSP00000493946	C		Seeded From UniProt	complete
enables	GO:0031870	thromboxane A2 receptor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q68CZ1 ensembl:ENSP00000493946	F		Seeded From UniProt	complete
part_of	GO:0005930	axoneme	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q68CZ1 ensembl:ENSP00000493946	C		Seeded From UniProt	complete
part_of	GO:0005929	cilium	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q68CZ1 ensembl:ENSP00000493946	C		Seeded From UniProt	complete
part_of	GO:0005911	cell-cell junction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q68CZ1 ensembl:ENSP00000493946	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q68CZ1 ensembl:ENSP00000493946	C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q68CZ1 ensembl:ENSP00000493946	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q68CZ1 ensembl:ENSP00000493946	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q68CZ1 ensembl:ENSP00000493946	C		Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q68CZ1 ensembl:ENSP00000493946	C		Seeded From UniProt	complete
involved_in	GO:0001736	establishment of planar polarity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR031136	P		Seeded From UniProt	complete
involved_in	GO:0032502	developmental process	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR031136	P		Seeded From UniProt	complete
part_of	GO:0005923	bicellular tight junction	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0796 UniProtKB-SubCell:SL-0265	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
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:0030054	cell junction	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0965	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
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: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 Sang, L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145 513-28 PubMed GONUTS page
↑ ^2.0 ^2.1 Ghosh, AK et al. (2012) 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am. J. Physiol. Renal Physiol. 303 F1225-9 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Mahuzier, A et al. (2012) Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity. J. Cell Biol. 198 927-40 PubMed GONUTS page
↑ ^4.00 ^4.01 ^4.02 ^4.03 ^4.04 ^4.05 ^4.06 ^4.07 ^4.08 ^4.09 ^4.10 ^4.11 ^4.12 Vierkotten, J et al. (2007) Ftm is a novel basal body protein of cilia involved in Shh signalling. Development 134 2569-77 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 ^5.13 ^5.14 ^5.15 ^5.16 Delous, M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat. Genet. 39 875-81 PubMed GONUTS page

[PMID:21565611-1] 1.0 ^1.1 Sang, L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145 513-28 PubMed GONUTS page

[PMID:22832925-2] 2.0 ^2.1 Ghosh, AK et al. (2012) 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am. J. Physiol. Renal Physiol. 303 F1225-9 PubMed GONUTS page

[PMID:22927466-3] 3.0 ^3.1 ^3.2 Mahuzier, A et al. (2012) Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity. J. Cell Biol. 198 927-40 PubMed GONUTS page

[PMID:17553904-4] 4.00 ^4.01 ^4.02 ^4.03 ^4.04 ^4.05 ^4.06 ^4.07 ^4.08 ^4.09 ^4.10 ^4.11 ^4.12 Vierkotten, J et al. (2007) Ftm is a novel basal body protein of cilia involved in Shh signalling. Development 134 2569-77 PubMed GONUTS page

[PMID:17558409-5] 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 ^5.13 ^5.14 ^5.15 ^5.16 Delous, M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat. Genet. 39 875-81 PubMed GONUTS page

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MOUSE:FTM

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