MOUSE:NPHP4

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Nphp4
Protein Name(s)	Nephrocystin-4 Nephroretinin
External Links
UniProt	P59240
EMBL	AY118229 AL607109 AL611970 AL611970 AL607109 CH466594 CH466594 BC138370
CCDS	CCDS38985.1
RefSeq	NP_700473.2 XP_006538935.1 XP_006538936.1
UniGene	Mm.302496
ProteinModelPortal	P59240
BioGrid	234431
IntAct	P59240
PhosphoSite	P59240
MaxQB	P59240
PRIDE	P59240
Ensembl	ENSMUST00000056567 ENSMUST00000081393
GeneID	260305
KEGG	mmu:260305
UCSC	uc008wap.1
CTD	261734
MGI	MGI:2384210
eggNOG	NOG81663
GeneTree	ENSGT00510000048827
HOGENOM	HOG000049142
HOVERGEN	HBG024036
InParanoid	P59240
KO	K16478
OMA	EFFEFVL
OrthoDB	EOG7CK363
TreeFam	TF351573
Reactome	REACT_196537
NextBio	392081
PRO	PR:P59240
Proteomes	UP000000589
Bgee	P59240
CleanEx	MM_NPHP4
ExpressionAtlas	P59240
Genevestigator	P59240
GO	GO:0005911 GO:0005813 GO:0097546 GO:0035869 GO:0005737 GO:0032391 GO:0097470 GO:0005923 GO:0090090 GO:0045494 GO:0035845 GO:0060041 GO:0030317
InterPro	IPR029775
PANTHER	PTHR31043:SF3

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 NPHP4 localizes diffusely in the cytoplasm	complete CACAO 7567
part_of	GO:0005737	cytoplasm	PMID:21565611^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005911	cell-cell junction	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O75161	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1903348	positive regulation of bicellular tight junction assembly	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O75161	P		Seeded From UniProt	complete
part_of	GO:0097546	ciliary base	PMID:20169535^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0002518)	Seeded From UniProt	complete
part_of	GO:0097470	ribbon synapse	PMID:21078623^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17168)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0090090	negative regulation of canonical Wnt signaling pathway	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O75161	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060041	retina development in camera-type eye	PMID:21052544^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	results_in_development_of:(EMAPA:17168)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045494	photoreceptor cell maintenance	PMID:21078623^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3032515	P		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1560172	C		Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	PMID:20169535^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0002518)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0035845	photoreceptor cell outer segment organization	PMID:21078623^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3032515	P		Seeded From UniProt	complete
part_of	GO:0032391	photoreceptor connecting cilium	PMID:21078623^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17168)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0030317	flagellated sperm motility	PMID:21078623^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3032515	P	occurs_at:(CL:0000019)	Seeded From UniProt	complete
part_of	GO:0005911	cell-cell junction	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O75161	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O75161	C		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:G3V9Y6 ensembl:ENSRNOP00000063188	C		Seeded From UniProt	complete
involved_in	GO:1903348	positive regulation of bicellular tight junction assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O75161 ensembl:ENSP00000367398	P		Seeded From UniProt	complete
involved_in	GO:0090090	negative regulation of canonical Wnt signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O75161 ensembl:ENSP00000367398	P		Seeded From UniProt	complete
part_of	GO:0005911	cell-cell junction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O75161 ensembl:ENSP00000367398	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O75161 ensembl:ENSP00000367398	C		Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR029775	C		Seeded From UniProt	complete
involved_in	GO:0090090	negative regulation of canonical Wnt signaling pathway	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR029775	P		Seeded From UniProt	complete
part_of	GO:0097730	non-motile cilium	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR029775	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:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C		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: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: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: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
edit table

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 Shiba, D et al. (2010) Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. Cytoskeleton (Hoboken) 67 112-9 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 Won, J et al. (2011) NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development. Hum. Mol. Genet. 20 482-96 PubMed GONUTS page
↑ Won, J et al. (2011) Mouse model resources for vision research. J Ophthalmol 2011 391384 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:20169535-2] 2.0 ^2.1 Shiba, D et al. (2010) Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. Cytoskeleton (Hoboken) 67 112-9 PubMed GONUTS page

[PMID:21078623-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 Won, J et al. (2011) NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development. Hum. Mol. Genet. 20 482-96 PubMed GONUTS page

[PMID:21052544-4] Won, J et al. (2011) Mouse model resources for vision research. J Ophthalmol 2011 391384 PubMed GONUTS page

[1]

[2]

[3]

[4]

MOUSE:NPHP4

Contents

Annotations

Notes

References

b

c

e

f

g

m

n

p

r

s

v

Navigation menu

Personal tools

Namespaces

Variants

Views

More

Search

Navigation

Cacao

Links

Tools