Q7Z494 (NPHP3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nephrocystin-3

Gene names

Name:	NPHP3
Synonyms:	KIAA2000

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1330 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. Ref.10
Subunit structure	Interacts with NPHP1 and INVS/NPHP2. Interacts (when myristoylated) with UNC119 and UNC119B; interaction is required for localization to cilium. Interacts with CEP164. Ref.1 Ref.8 Ref.9 Ref.10
Subcellular location	Cell projection › cilium. Note: Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus. Ref.7 Ref.8
Tissue specificity	Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung. Ref.1
Involvement in disease	Nephronophthisis 3 (NPHP3) [MIM:604387]: An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]: Autosomal recessive disorder with variable expression, and patients surviving the neonatal period progress to renal and hepatic failure which can be treated successfully with combined liver-kidney transplantation. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Meckel syndrome 7 (MKS7) [MIM:267010]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10
Sequence similarities	Contains 11 TPR repeats.
Sequence caution	The sequence BAB70891.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC02709.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAC04268.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Wnt signaling pathway
Cellular component	Cell projection Cilium
Coding sequence diversity	Alternative splicing
Disease	Ciliopathy Disease mutation Meckel syndrome Nephronophthisis
Domain	Coiled coil Repeat TPR repeat
PTM	Lipoprotein Myristate
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Wnt receptor signaling pathway Inferred from electronic annotation. Source: UniProtKB-KW atrial septum development Inferred from mutant phenotype Ref.10. Source: BHF-UCL cilium morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB convergent extension involved in gastrulation Inferred from genetic interaction Ref.10. Source: BHF-UCL determination of intestine left/right asymmetry Inferred from mutant phenotype PubMed 20007846. Source: BHF-UCL determination of liver left/right asymmetry Inferred from mutant phenotype PubMed 20007846. Source: BHF-UCL determination of pancreatic left/right asymmetry Inferred from mutant phenotype PubMed 20007846. Source: BHF-UCL determination of stomach left/right asymmetry Inferred from mutant phenotype Ref.10. Source: BHF-UCL epithelial cilium movement involved in determination of left/right asymmetry Inferred by curator. Source: BHF-UCL heart looping Inferred from mutant phenotype Ref.10PubMed 20007846. Source: BHF-UCL kidney morphogenesis Inferred from mutant phenotype Ref.10. Source: BHF-UCL lipid metabolic process Inferred from electronic annotation. Source: Compara lung development Inferred from mutant phenotype PubMed 20007846. Source: BHF-UCL maintenance of organ identity Inferred from mutant phenotype Ref.1. Source: HGNC negative regulation of canonical Wnt receptor signaling pathway Inferred from direct assay Ref.10. Source: UniProtKB photoreceptor cell maintenance Inferred from mutant phenotype Ref.1. Source: HGNC regulation of planar cell polarity pathway involved in neural tube closure Inferred by curator Ref.10. Source: BHF-UCL ureter development Inferred from mutant phenotype Ref.10. Source: BHF-UCL
Cellular_component	primary cilium Inferred from direct assay Ref.8. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CEP164	Q9UPV0	2	EBI-2804263,EBI-3937015

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q7Z494-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q7Z494-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-720: Missing.
     1330-1330: R → RKVQSNLLSPEGLSNICAQEKTTRFTSS

Note: No experimental confirmation available.

Isoform 3 (identifier: Q7Z494-3)

The sequence of this isoform differs from the canonical sequence as follows:
     630-636: QVEKHMK → VVAYTSS
     637-1330: Missing.

Isoform 4 (identifier: Q7Z494-4)

The sequence of this isoform differs from the canonical sequence as follows:
     132-181: ALQKTYQKIL...FKIFRETKEN → VTPGWAATPG...HILFESEMIP
     182-1330: Missing.

Note: No experimental confirmation available.

Isoform 5 (identifier: Q7Z494-5)

The sequence of this isoform differs from the canonical sequence as follows:
     224-239: AAGTQCEYWTGGALGS → VSLESDQHPGIFIANF
     240-1330: Missing.

Note: No experimental confirmation available.

Isoform 6 (identifier: Q7Z494-6)

The sequence of this isoform differs from the canonical sequence as follows:
     697-704: EKKLERHC → CWESRQFR
     705-1330: Missing.

Isoform 7 (identifier: Q7Z494-7)

The sequence of this isoform differs from the canonical sequence as follows:
     132-150: ALQKTYQKILREKESALEA → GLAAVARSRLTATWNSWAQ
     151-1330: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed
	Chain	2 – 1330	1329	Nephrocystin-3		PRO_0000106301
Regions
	Repeat	471 – 504	34	TPR 1
	Repeat	885 – 918	34	TPR 2
	Repeat	920 – 942	23	TPR 3
	Repeat	943 – 976	34	TPR 4
	Repeat	985 – 1018	34	TPR 5
	Repeat	1027 – 1060	34	TPR 6
	Repeat	1093 – 1126	34	TPR 7
	Repeat	1135 – 1168	34	TPR 8
	Repeat	1177 – 1210	34	TPR 9
	Repeat	1219 – 1252	34	TPR 10
	Repeat	1261 – 1294	34	TPR 11
	Coiled coil	83 – 207	125	Potential
Amino acid modifications
	Lipidation	2	1	N-myristoyl glycine Ref.8
Natural variations
	Alternative sequence	1 – 720	720	Missing in isoform 2.		VSP_014480
	Alternative sequence	132 – 181	50	ALQKT…ETKEN → VTPGWAATPGDPWEARPSCS LSKPSGFESSAETAHFNLRG HILFESEMIP in isoform 4.		VSP_014482
	Alternative sequence	132 – 150	19	ALQKT…SALEA → GLAAVARSRLTATWNSWAQ in isoform 7.		VSP_014484
	Alternative sequence	151 – 1330	1180	Missing in isoform 7.		VSP_014485
	Alternative sequence	182 – 1330	1149	Missing in isoform 4.		VSP_014483
	Alternative sequence	224 – 239	16	AAGTQ…GALGS → VSLESDQHPGIFIANF in isoform 5.		VSP_014486
	Alternative sequence	240 – 1330	1091	Missing in isoform 5.		VSP_014487
	Alternative sequence	630 – 636	7	QVEKHMK → VVAYTSS in isoform 3.		VSP_014488
	Alternative sequence	637 – 1330	694	Missing in isoform 3.		VSP_014489
	Alternative sequence	697 – 704	8	EKKLERHC → CWESRQFR in isoform 6.		VSP_014490
	Alternative sequence	705 – 1330	626	Missing in isoform 6.		VSP_014491
	Alternative sequence	1330	1	R → RKVQSNLLSPEGLSNICAQE KTTRFTSS in isoform 2.		VSP_014481
	Natural variant	360	1	S → T in NPHP3. Ref.1		VAR_022815
	Natural variant	386	1	N → S in NPHP3. Ref.1		VAR_022816
	Natural variant	397	1	R → H in NPHP3. Ref.1		VAR_022817
	Natural variant	973	1	R → Q in RHPD. Ref.10		VAR_044121
	Natural variant	1141	1	L → P in NPHP3. Ref.1		VAR_022818
	Natural variant	1221	1	A → V in NPHP3. Ref.1		VAR_022819
	Natural variant	1252	1	S → R in NPHP3. Ref.1		VAR_022820
	Natural variant	1305	1	R → C. Corresponds to variant rs35485382 [ dbSNP | Ensembl ].		VAR_044122
	Natural variant	1314	1	S → T in NPHP3. Ref.1		VAR_022821
Experimental info
	Sequence conflict	223	1	T → TT in CAI46202. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2003. Version 1. Checksum: 99C1F17C9A5117F8	FASTA	1,330	150,864
	10 20 30 40 50 60 MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG AAAGAGPGSL 70 80 90 100 110 120 PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI FRVSKNQELL SMGRREAKLD 130 140 150 160 170 180 TENKRLRAEL QALQKTYQKI LREKESALEA KYQAMERAAT FEHDRDKVKR QFKIFRETKE 190 200 210 220 230 240 NEIQDLLRAK RELESKLQRL QAQGIQVFDP GESDSDDNCT DVTAAGTQCE YWTGGALGSE 250 260 270 280 290 300 PSIGSMIQLQ QSFRGPEFAH SSIDVEGPFA NVNRDDWDIA VASLLQVTPL FSHSLWSNTV 310 320 330 340 350 360 RCYLIYTDET QPEMDLFLKD YSPKLKRMCE TMGYFFHAVY FPIDVENQYL TVRKWEIEKS 370 380 390 400 410 420 SLVILFIHLT LPSLLLEDCE EAFLKNPEGK PRLIFHRLED GKVSSDSVQQ LIDQVSNLNK 430 440 450 460 470 480 TSKAKIIDHS GDPAEGVYKT YICVEKIIKQ DILGFENTDL ETKDLGSEDS IPEEDDFGDV 490 500 510 520 530 540 LWDIHDEQEQ METFQQASNS AHELGFEKYY QRLNDLVAAP APIPPLLVSG GPGSGKSLLL 550 560 570 580 590 600 SKWIQLQQKN SPNTLILSHF VGRPMSTSSE SSLIIKRLTL KLMQHSWSVS ALTLDPAKLL 610 620 630 640 650 660 EEFPRWLEKL SARHQGSIII VIDSIDQVQQ VEKHMKWLID PLPVNVRVIV SVNVETCPPA 670 680 690 700 710 720 WRLWPTLHLD PLSPKDAKSI IIAECHSVDI KLSKEQEKKL ERHCRSATTC NALYVTLFGK 730 740 750 760 770 780 MIARAGRAGN LDKILHQCFQ CQDTLSLYRL VLHSIRESMA NDVDKELMKQ ILCLVNVSHN 790 800 810 820 830 840 GVSESELMEL YPEMSWTFLT SLIHSLYKMC LLTYGCGLLR FQHLQAWETV RLEYLEGPTV 850 860 870 880 890 900 TSSYRQKLIN YFTLQLSQDR VTWRSADELP WLFQQQGSKQ KLHDCLLNLF VSQNLYKRGH 910 920 930 940 950 960 FAELLSYWQF VGKDKSAMAT EYFDSLKQYE KNCEGEDNMS CLADLYETLG RFLKDLGLLS 970 980 990 1000 1010 1020 QAIVPLQRSL EIRETALDPD HPRVAQSLHQ LASVYVQWKK FGNAEQLYKQ ALEISENAYG 1030 1040 1050 1060 1070 1080 ADHPYTAREL EALATLYQKQ NKYEQAEHFR KKSFKIHQKA IKKKGNLYGF ALLRRRALQL 1090 1100 1110 1120 1130 1140 EELTLGKDTP DNARTLNELG VLYYLQNNLE TADQFLKRSL EMRERVLGPD HPDCAQSLNN 1150 1160 1170 1180 1190 1200 LAALCNEKKQ YDKAEELYER ALDIRRRALA PDHPSLAYTV KHLAILYKKM GKLDKAVPLY 1210 1220 1230 1240 1250 1260 ELAVEIRQKS FGPKHPSVAT ALVNLAVLYS QMKKHVEALP LYERALKIYE DSLGRMHPRV 1270 1280 1290 1300 1310 1320 GETLKNLAVL SYEGGDFEKA AELYKRAMEI KEAETSLLGG KAPSRHSSSG DTFSLKTAHS 1330 PNVFLQQGQR
	Isoform 2 [UniParc]. Checksum: B12632DACE1A9058	FASTA	637	73,014
	10 20 30 40 50 60 MIARAGRAGN LDKILHQCFQ CQDTLSLYRL VLHSIRESMA NDVDKELMKQ ILCLVNVSHN 70 80 90 100 110 120 GVSESELMEL YPEMSWTFLT SLIHSLYKMC LLTYGCGLLR FQHLQAWETV RLEYLEGPTV 130 140 150 160 170 180 TSSYRQKLIN YFTLQLSQDR VTWRSADELP WLFQQQGSKQ KLHDCLLNLF VSQNLYKRGH 190 200 210 220 230 240 FAELLSYWQF VGKDKSAMAT EYFDSLKQYE KNCEGEDNMS CLADLYETLG RFLKDLGLLS 250 260 270 280 290 300 QAIVPLQRSL EIRETALDPD HPRVAQSLHQ LASVYVQWKK FGNAEQLYKQ ALEISENAYG 310 320 330 340 350 360 ADHPYTAREL EALATLYQKQ NKYEQAEHFR KKSFKIHQKA IKKKGNLYGF ALLRRRALQL 370 380 390 400 410 420 EELTLGKDTP DNARTLNELG VLYYLQNNLE TADQFLKRSL EMRERVLGPD HPDCAQSLNN 430 440 450 460 470 480 LAALCNEKKQ YDKAEELYER ALDIRRRALA PDHPSLAYTV KHLAILYKKM GKLDKAVPLY 490 500 510 520 530 540 ELAVEIRQKS FGPKHPSVAT ALVNLAVLYS QMKKHVEALP LYERALKIYE DSLGRMHPRV 550 560 570 580 590 600 GETLKNLAVL SYEGGDFEKA AELYKRAMEI KEAETSLLGG KAPSRHSSSG DTFSLKTAHS 610 620 630 PNVFLQQGQR KVQSNLLSPE GLSNICAQEK TTRFTSS
	Isoform 3 [UniParc]. Checksum: 8960364D3DFD50EA	FASTA	636	71,101
	10 20 30 40 50 60 MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG AAAGAGPGSL 70 80 90 100 110 120 PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI FRVSKNQELL SMGRREAKLD 130 140 150 160 170 180 TENKRLRAEL QALQKTYQKI LREKESALEA KYQAMERAAT FEHDRDKVKR QFKIFRETKE 190 200 210 220 230 240 NEIQDLLRAK RELESKLQRL QAQGIQVFDP GESDSDDNCT DVTAAGTQCE YWTGGALGSE 250 260 270 280 290 300 PSIGSMIQLQ QSFRGPEFAH SSIDVEGPFA NVNRDDWDIA VASLLQVTPL FSHSLWSNTV 310 320 330 340 350 360 RCYLIYTDET QPEMDLFLKD YSPKLKRMCE TMGYFFHAVY FPIDVENQYL TVRKWEIEKS 370 380 390 400 410 420 SLVILFIHLT LPSLLLEDCE EAFLKNPEGK PRLIFHRLED GKVSSDSVQQ LIDQVSNLNK 430 440 450 460 470 480 TSKAKIIDHS GDPAEGVYKT YICVEKIIKQ DILGFENTDL ETKDLGSEDS IPEEDDFGDV 490 500 510 520 530 540 LWDIHDEQEQ METFQQASNS AHELGFEKYY QRLNDLVAAP APIPPLLVSG GPGSGKSLLL 550 560 570 580 590 600 SKWIQLQQKN SPNTLILSHF VGRPMSTSSE SSLIIKRLTL KLMQHSWSVS ALTLDPAKLL 610 620 630 EEFPRWLEKL SARHQGSIII VIDSIDQVQV VAYTSS
	Isoform 4 [UniParc]. Checksum: F5B40DF9324E1D1E	FASTA	181	19,138
	10 20 30 40 50 60 MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG AAAGAGPGSL 70 80 90 100 110 120 PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI FRVSKNQELL SMGRREAKLD 130 140 150 160 170 180 TENKRLRAEL QVTPGWAATP GDPWEARPSC SLSKPSGFES SAETAHFNLR GHILFESEMI P
	Isoform 5 [UniParc]. Checksum: 05AFCF865C45DC45	FASTA	239	26,342
	10 20 30 40 50 60 MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG AAAGAGPGSL 70 80 90 100 110 120 PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI FRVSKNQELL SMGRREAKLD 130 140 150 160 170 180 TENKRLRAEL QALQKTYQKI LREKESALEA KYQAMERAAT FEHDRDKVKR QFKIFRETKE 190 200 210 220 230 NEIQDLLRAK RELESKLQRL QAQGIQVFDP GESDSDDNCT DVTVSLESDQ HPGIFIANF
	Isoform 6 [UniParc]. Checksum: 6C99314707B4ED2C	FASTA	704	79,132
	10 20 30 40 50 60 MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG AAAGAGPGSL 70 80 90 100 110 120 PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI FRVSKNQELL SMGRREAKLD 130 140 150 160 170 180 TENKRLRAEL QALQKTYQKI LREKESALEA KYQAMERAAT FEHDRDKVKR QFKIFRETKE 190 200 210 220 230 240 NEIQDLLRAK RELESKLQRL QAQGIQVFDP GESDSDDNCT DVTAAGTQCE YWTGGALGSE 250 260 270 280 290 300 PSIGSMIQLQ QSFRGPEFAH SSIDVEGPFA NVNRDDWDIA VASLLQVTPL FSHSLWSNTV 310 320 330 340 350 360 RCYLIYTDET QPEMDLFLKD YSPKLKRMCE TMGYFFHAVY FPIDVENQYL TVRKWEIEKS 370 380 390 400 410 420 SLVILFIHLT LPSLLLEDCE EAFLKNPEGK PRLIFHRLED GKVSSDSVQQ LIDQVSNLNK 430 440 450 460 470 480 TSKAKIIDHS GDPAEGVYKT YICVEKIIKQ DILGFENTDL ETKDLGSEDS IPEEDDFGDV 490 500 510 520 530 540 LWDIHDEQEQ METFQQASNS AHELGFEKYY QRLNDLVAAP APIPPLLVSG GPGSGKSLLL 550 560 570 580 590 600 SKWIQLQQKN SPNTLILSHF VGRPMSTSSE SSLIIKRLTL KLMQHSWSVS ALTLDPAKLL 610 620 630 640 650 660 EEFPRWLEKL SARHQGSIII VIDSIDQVQQ VEKHMKWLID PLPVNVRVIV SVNVETCPPA 670 680 690 700 WRLWPTLHLD PLSPKDAKSI IIAECHSVDI KLSKEQCWES RQFR
	Isoform 7 [UniParc]. Checksum: 10593BB409D181B0	FASTA	150	15,798
	10 20 30 40 50 60 MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG AAAGAGPGSL 70 80 90 100 110 120 PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI FRVSKNQELL SMGRREAKLD 130 140 150 TENKRLRAEL QGLAAVARSR LTATWNSWAQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis." Olbrich H., Fliegauf M., Hoefele J., Kispert A., Otto E., Volz A., Wolf M.T., Sasmaz G., Trauer U., Reinhardt R., Sudbrak R., Antignac C., Gretz N., Walz G., Schermer B., Benzing T., Hildebrandt F., Omran H. Nat. Genet. 34:455-459(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 117-1330, NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [MRNA] OF 584-1330 (ISOFORM 3), INTERACTION WITH NPHP1, TISSUE SPECIFICITY, VARIANTS NPHP3 THR-360; SER-386; HIS-397; PRO-1141; VAL-1221; ARG-1252 AND THR-1314.
[2]	"Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method." Ohara O., Nagase T., Mitsui G., Kohga H., Kikuno R., Hiraoka S., Takahashi Y., Kitajima S., Saga Y., Koseki H. DNA Res. 9:47-57(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 319-1330. Tissue: Brain, Mammary gland and Uterus.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 555-1330 (ISOFORM 6). Tissue: Fetal kidney and Lymph node.
[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] (ISOFORM 7). Tissue: Salivary gland.
[6]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell.
[7]	"Nephrocystin-3 is required for ciliary function in zebrafish embryos." Zhou W., Dai J., Attanasio M., Hildebrandt F. Am. J. Physiol. 299:F55-F62(2010) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[8]	"An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium." Wright K.J., Baye L.M., Olivier-Mason A., Mukhopadhyay S., Sang L., Kwong M., Wang W., Pretorius P.R., Sheffield V.C., Sengupta P., Slusarski D.C., Jackson P.K. Genes Dev. 25:2347-2360(2011) [PubMed] [Europe PMC] [Abstract] Cited for: MYRISTOYLATION AT GLY-2, INTERACTION WITH UNC119 AND UNC119B, SUBCELLULAR LOCATION.
[9]	"Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling." Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A., Gee H.Y., Ramaswami G., Hong C.J., Hamilton B.A., Cervenka I., Ganji R.S., Bryja V., Arts H.H. , van Reeuwijk J., Oud M.M., Letteboer S.J., Roepman R., Husson H., Ibraghimov-Beskrovnaya O., Yasunaga T., Walz G., Eley L., Sayer J.A., Schermer B., Liebau M.C., Benzing T., Le Corre S., Drummond I., Janssen S., Allen S.J., Natarajan S., O'Toole J.F., Attanasio M., Saunier S., Antignac C., Koenekoop R.K., Ren H., Lopez I., Nayir A., Stoetzel C., Dollfus H., Massoudi R., Gleeson J.G., Andreoli S.P., Doherty D.G., Lindstrad A., Golzio C., Katsanis N., Pape L., Abboud E.B., Al-Rajhi A.A., Lewis R.A., Omran H., Lee E.Y., Wang S., Sekiguchi J.M., Saunders R., Johnson C.A., Garner E., Vanselow K., Andersen J.S., Shlomai J., Nurnberg G., Nurnberg P., Levy S., Smogorzewska A., Otto E.A., Hildebrandt F. Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CEP164.
[10]	"Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia." Bergmann C., Fliegauf M., Bruechle N.O., Frank V., Olbrich H., Kirschner J., Schermer B., Schmedding I., Kispert A., Kraenzlin B., Nuernberg G., Becker C., Grimm T., Girschick G., Lynch S.A., Kelehan P., Senderek J., Neuhaus T.J. , Stallmach T., Zentgraf H., Nuernberg P., Gretz N., Lo C., Lienkamp S., Schaefer T., Walz G., Benzing T., Zerres K., Omran H. Am. J. Hum. Genet. 82:959-970(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT RHPD GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY257864 mRNA. Translation: AAP83423.1. AY257865 mRNA. Translation: AAP83424.1. AY257866 mRNA. Translation: AAP83425.1. AB082531 mRNA. Translation: BAC02709.1. Different initiation. AK055253 mRNA. Translation: BAB70891.1. Different initiation. AK055893 mRNA. Translation: BAB71038.1. AK094015 mRNA. Translation: BAC04268.1. Different initiation. AL832863 mRNA. Translation: CAI46200.2. AL832877 Transcribed RNA. Translation: CAI46202.1. CR749498 mRNA. Translation: CAH18321.1. BC068082 mRNA. Translation: AAH68082.1.
IPI	IPI00043491. IPI00337657. IPI00385061. IPI00432737. IPI00553066. IPI00607578. IPI00607702.
RefSeq	NP_694972.3. NM_153240.4.
UniGene	Hs.511991.
3D structure databases
ProteinModelPortal	Q7Z494.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z494. 4 interactions.
PTM databases
PhosphoSite	Q7Z494.
Polymorphism databases
DMDM	68565783.
Proteomic databases
PaxDb	Q7Z494.
PRIDE	Q7Z494.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000326682; ENSP00000319909; ENSG00000113971. ENST00000337331; ENSP00000338766; ENSG00000113971. ENST00000343113; ENSP00000344802; ENSG00000113971. ENST00000383282; ENSP00000372769; ENSG00000113971. ENST00000469232; ENSP00000418664; ENSG00000113971. ENST00000471702; ENSP00000419763; ENSG00000113971.
GeneID	27031.
KEGG	hsa:27031.
UCSC	uc003epd.2. human. uc003epe.2. human.
Organism-specific databases
CTD	27031.
GeneCards	GC03M132277.
H-InvDB	HIX0003689. HIX0030824.
HGNC	HGNC:7907. NPHP3.
HPA	HPA009150.
MIM	208540. phenotype. 267010. phenotype. 604387. phenotype. 608002. gene.
neXtProt	NX_Q7Z494.
Orphanet	655. Autosomal recessive medullary cystic kidney disease. 3032. NPHP3-related Meckel-like syndrome. 294415. Renal-hepatic-pancreatic dysplasia. 3156. Senior-Loken syndrome.
PharmGKB	PA31708.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0457.
HOVERGEN	HBG079457.
InParanoid	Q7Z494.
OMA	SMAAEYF.
PhylomeDB	Q7Z494.
Gene expression databases
ArrayExpress	Q7Z494.
Bgee	Q7Z494.
Genevestigator	Q7Z494.
GermOnline	ENSG00000113971. Homo sapiens.
Family and domain databases
Gene3D	1.25.40.10. 2 hits.
InterPro	IPR013026. TPR-contain_dom. IPR011990. TPR-like_helical. IPR019734. TPR_repeat. [Graphical view]
Pfam	PF13176. TPR_7. 1 hit. [Graphical view]
SMART	SM00028. TPR. 8 hits. [Graphical view]
PROSITE	PS50005. TPR. 8 hits. PS50293. TPR_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	27031.
NextBio	49564.
SOURCE	Search...

Entry information

Entry name

NPHP3_HUMAN

Accession

Primary (citable) accession number: Q7Z494
Secondary accession number(s): Q5JPE3 , Q5JPE6, Q68D99, Q6NVH3, Q7Z492, Q7Z493, Q8N9R2, Q8NCM5, Q96N70, Q96NK2

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 5, 2005
Last sequence update:	October 1, 2003
Last modified:	May 1, 2013
This is version 91 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.