P59240 (NPHP4_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nephrocystin-4

Alternative name(s):
Nephroretinin

Gene names

Name:

Nphp4

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	1425 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in the organization of apical junctions in kidney cells, together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Ref.6
Subunit structure	Interacts with NPHP1 and RPGRIP1L, and can bridge the interaction between those two proteins By similarity. Interacts with IQCB1; the interaction likely requires additional interactors By similarity. Weakly interacts with CEP164 By similarity.
Subcellular location	Cytoplasm › cytoskeleton › cilium basal body. Cytoplasm › cytoskeleton › centrosome By similarity. Cell junction › tight junction By similarity. Note: In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions By similarity.
Sequence similarities	Belongs to the NPHP4 family.

Ontologies

Keywords
Cellular component	Cell junction Cell projection Cilium Cytoplasm Cytoskeleton Tight junction
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	retina development in camera-type eye Inferred from mutant phenotype PubMed 21052544. Source: MGI
Cellular_component	cell-cell junction Inferred from sequence or structural similarity. Source: UniProtKB centrosome Inferred from electronic annotation. Source: Compara cilium Inferred from electronic annotation. Source: UniProtKB-KW cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW microtubule basal body Inferred from electronic annotation. Source: UniProtKB-SubCell tight junction Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Nphp1	Q9QY53	8	EBI-4281265,EBI-77230
Rpgrip1l	Q8CG73	4	EBI-4281265,EBI-4281130

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1425	1425	Nephrocystin-4		PRO_0000159770

Sequences

	Sequence		Length	Mass (Da)
	P59240 [UniParc]. Last modified July 27, 2011. Version 2. Checksum: DDB9739850AEA5C4	FASTA	1,425	157,269
	10 20 30 40 50 60 MGDWHRAFTQ NTLVPPHPQR ARQLGKESTA FQCILKWLDG PLIKQGILDM LSELECHLRV 70 80 90 100 110 120 TLFDVTYKHF FGRTWKTTVK PTNQPSKQPP RITFNEPLYF HTTLSHPSIV AVVEVVTEGR 130 140 150 160 170 180 KRDGTLQLLS CGFGILRIFG NKPESPTSAA QDKRLRLYHG TPRALLHPLL QDPIEQNKFM 190 200 210 220 230 240 RLMENCSLQY TLKPHPPLEP AFHLLPENLL VSGFQQIPGL LPPHGDTGDA LRKPRFQKPT 250 260 270 280 290 300 TWHLDDLFFT LYPSLEKFEE ELVQLLISDR EGVGLLDSGT LEVLERRLHV CVHNGLGFVQ 310 320 330 340 350 360 RPQVVVLVPE MDVALTRSAS FSRKISASSK NSSGNQALVL RSHLRLPEMV SHPAFAIVFQ 370 380 390 400 410 420 LEYVFNSPSG ADGGASSPTS ISSVACMHMV RWAVWNPDLE VGPGKVTLPL QGGVQQNPSR 430 440 450 460 470 480 CLVYKVPSAS MSSEEVKQVE SGTIQFQFSL SSDGPTEHAN GPRVGRRSSR KMPASPSGTP 490 500 510 520 530 540 APAARDLAAT QDSPVGPGLS LSQLTASPLS PALQSSSKPP LQPPDSSQSP EGPQLQAESV 550 560 570 580 590 600 LESRVSHLEA DLSQPASLQG TPAVEHLQEL PFTPLHAPIV VGAQTRSSRS QLSRAAMVLL 610 620 630 640 650 660 QSSGFPEILD ASQQPVEAVN PIDPVRFNPQ KEESDCLRGN EIVLQFLAFS RAAQDCPGTP 670 680 690 700 710 720 WPQTVYFTFQ FYRFPPETTP RLQLVKLDGT GKSGSGSLSH ILVPINKDGS FDAGSPGLQL 730 740 750 760 770 780 RYMVDPGFLK PGEQRWFAHY LAAQTLQVDV WDGDSLLLIG SAGVQMKHLL RQGRPAVQVS 790 800 810 820 830 840 HELEVVATEY EQEMMAVSGD VAGFGSVKPI GVHTVVKGRL HLTLANVGHA CEPRARGSNL 850 860 870 880 890 900 LPPSRSRVIS NDGASFFSGG SLLIPGGPKR KRVVQAQRLA DVDSELAAML LTHTRAGQGP 910 920 930 940 950 960 QAAGQEADAV HKRKLERMRL VRLQEAGGDS DSRRISLLAQ HSVRAQHSRD LQVIDAYRER 970 980 990 1000 1010 1020 TKAESIAGVL SQAITTHHTL YATLGTAEFF EFALKNPHNT QHTVAIEIDS PELSIILDSQ 1030 1040 1050 1060 1070 1080 EWRYFKEATG LHTPLEEDMF HLRGSLAPQL YLRPRETAHI PLKFQSFSVG PLAPTQAPAE 1090 1100 1110 1120 1130 1140 VITEKDAESG PLWKCSAMPT KHAKVLFRVE TGQLIAVLCL TVEPQPHVVD QVFRFYHPEL 1150 1160 1170 1180 1190 1200 TFLKKAIRLP PWHTLPGAPV GMPGEDPPVH VRCSDPNVIC EAQNVGPGEP RDVFLKVASG 1210 1220 1230 1240 1250 1260 PSPEIKDFFV VIYADRWLAV PVQTWQVCLH SLQRVDVSCV AGQLTRLSLV LRGTQTVRKV 1270 1280 1290 1300 1310 1320 RAFTSHPQEL KTDPAGVFVL PPHGVQDLHV GVRPRRAGSR FVHLNLVDID YHQLVASWLV 1330 1340 1350 1360 1370 1380 CLSCRQPLIS KAFEITMAAG DEKGTNKRIT YTNPYPSRRT YRLHSDRPEL LRFKEDSFQV 1390 1400 1410 1420 AGGETYTIGL RFLPSGSAGQ EEILIYINDH EDKNEETFCV KVLYQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin." Mollet G., Salomon R., Gribouval O., Silbermann F., Bacq D., Landthaler G., Milford D., Nayir A., Rizzoni G., Antignac C., Saunier S. Nat. Genet. 32:300-305(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	Erratum Mollet G., Salomon R., Gribouval O., Silbermann F., Bacq D., Landthaler G., Milford D., Nayir A., Rizzoni G., Antignac C., Saunier S. Nat. Genet. 32:459-459(2002)
[3]	"Lineage-specific biology revealed by a finished genome assembly of the mouse." Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P. PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Strain: C57BL/6J.
[4]	Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[6]	"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways." Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A., Baye L.M., Wen X., Scales S.J., Kwong M., Huntzicker E.G., Sfakianos M.K., Sandoval W., Bazan J.F., Kulkarni P., Garcia-Gonzalo F.R., Seol A.D., O'Toole J.F. , Held S., Reutter H.M., Lane W.S., Rafiq M.A., Noor A., Ansar M., Devi A.R., Sheffield V.C., Slusarski D.C., Vincent J.B., Doherty D.A., Hildebrandt F., Reiter J.F., Jackson P.K. Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY118229 mRNA. Translation: AAM78559.1. AL607109, AL611970 Genomic DNA. Translation: CAM21853.1. AL611970, AL607109 Genomic DNA. Translation: CAM23668.1. CH466594 Genomic DNA. Translation: EDL14939.1. CH466594 Genomic DNA. Translation: EDL14940.1. BC138370 mRNA. Translation: AAI38371.1.
IPI	IPI00177203.
RefSeq	NP_700473.2. NM_153424.2.
UniGene	Mm.302496.
3D structure databases
ProteinModelPortal	P59240.
ModBase	Search...
Protein-protein interaction databases
IntAct	P59240. 68 interactions.
PTM databases
PhosphoSite	P59240.
Proteomic databases
PRIDE	P59240.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000056567; ENSMUSP00000049920; ENSMUSG00000039577. ENSMUST00000081393; ENSMUSP00000080128; ENSMUSG00000039577.
GeneID	260305.
KEGG	mmu:260305.
Organism-specific databases
CTD	261734.
MGI	MGI:2384210. Nphp4.
Phylogenomic databases
eggNOG	NOG81663.
GeneTree	ENSGT00510000048827.
HOGENOM	HOG000049142.
HOVERGEN	HBG024036.
InParanoid	B1AS30.
KO	K16478.
OMA	FQLEYVF.
OrthoDB	EOG47M207.
Gene expression databases
ArrayExpress	P59240.
Bgee	P59240.
CleanEx	MM_NPHP4.
Genevestigator	P59240.
GermOnline	ENSMUSG00000039577. Mus musculus.
Family and domain databases
ProtoNet	Search...
Other
NextBio	392081.
SOURCE	Search...

Entry information

Entry name

NPHP4_MOUSE

Accession

Primary (citable) accession number: P59240
Secondary accession number(s): B1AS30

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 27, 2003
Last sequence update:	July 27, 2011
Last modified:	May 1, 2013
This is version 70 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program