Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q7Z494 (NPHP3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nephrocystin-3
Gene names
Name:NPHP3
Synonyms:KIAA2000
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1330 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.12

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. Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme. Ref.1 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12

Subcellular location

Cell projectioncilium. 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 1 (RHPD1) [MIM:208540]: A disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12

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.12

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 processWnt signaling pathway
   Cellular componentCell projection
Cilium
   Coding sequence diversityAlternative splicing
   DiseaseCiliopathy
Disease mutation
Meckel syndrome
Nephronophthisis
   DomainCoiled coil
Repeat
TPR repeat
   PTMLipoprotein
Myristate
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processWnt signaling pathway

Inferred from electronic annotation. Source: UniProtKB-KW

atrial septum development

Inferred from mutant phenotype Ref.12. Source: BHF-UCL

cilium morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

convergent extension involved in gastrulation

Inferred from genetic interaction Ref.12. Source: BHF-UCL

determination of intestine left/right asymmetry

Inferred from mutant phenotype PubMed 20007846. Source: BHF-UCL

determination of left/right symmetry

Inferred from mutant phenotype Ref.12. 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.12. Source: BHF-UCL

epithelial cilium movement involved in determination of left/right asymmetry

Inferred by curator. Source: BHF-UCL

establishment or maintenance of cell polarity

Inferred from electronic annotation. Source: Ensembl

extracellular matrix organization

Inferred from electronic annotation. Source: Ensembl

heart looping

Inferred from mutant phenotype Ref.12PubMed 20007846. Source: BHF-UCL

kidney development

Inferred from mutant phenotype PubMed 20007846. Source: BHF-UCL

kidney morphogenesis

Inferred from mutant phenotype Ref.12. Source: BHF-UCL

lipid metabolic process

Inferred from electronic annotation. Source: Ensembl

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 signaling pathway

Inferred from direct assay Ref.12. Source: UniProtKB

photoreceptor cell maintenance

Inferred from mutant phenotype Ref.1. Source: HGNC

regulation of Wnt signaling pathway, planar cell polarity pathway

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of cAMP metabolic process

Inferred from electronic annotation. Source: Ensembl

regulation of planar cell polarity pathway involved in neural tube closure

Inferred by curator Ref.12. Source: BHF-UCL

ureter development

Inferred from mutant phenotype Ref.12. Source: BHF-UCL

   Cellular_componentcilium

Inferred from direct assay Ref.7. Source: UniProtKB

primary cilium

Inferred from direct assay Ref.8. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CEP164Q9UPV02EBI-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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed
Chain2 – 13301329Nephrocystin-3
PRO_0000106301

Regions

Repeat471 – 50434TPR 1
Repeat885 – 91834TPR 2
Repeat920 – 94223TPR 3
Repeat943 – 97634TPR 4
Repeat985 – 101834TPR 5
Repeat1027 – 106034TPR 6
Repeat1093 – 112634TPR 7
Repeat1135 – 116834TPR 8
Repeat1177 – 121034TPR 9
Repeat1219 – 125234TPR 10
Repeat1261 – 129434TPR 11
Coiled coil83 – 207125 Potential

Amino acid modifications

Lipidation21N-myristoyl glycine Ref.8

Natural variations

Alternative sequence1 – 720720Missing in isoform 2.
VSP_014480
Alternative sequence132 – 18150ALQKT…ETKEN → VTPGWAATPGDPWEARPSCS LSKPSGFESSAETAHFNLRG HILFESEMIP in isoform 4.
VSP_014482
Alternative sequence132 – 15019ALQKT…SALEA → GLAAVARSRLTATWNSWAQ in isoform 7.
VSP_014484
Alternative sequence151 – 13301180Missing in isoform 7.
VSP_014485
Alternative sequence182 – 13301149Missing in isoform 4.
VSP_014483
Alternative sequence224 – 23916AAGTQ…GALGS → VSLESDQHPGIFIANF in isoform 5.
VSP_014486
Alternative sequence240 – 13301091Missing in isoform 5.
VSP_014487
Alternative sequence630 – 6367QVEKHMK → VVAYTSS in isoform 3.
VSP_014488
Alternative sequence637 – 1330694Missing in isoform 3.
VSP_014489
Alternative sequence697 – 7048EKKLERHC → CWESRQFR in isoform 6.
VSP_014490
Alternative sequence705 – 1330626Missing in isoform 6.
VSP_014491
Alternative sequence13301R → RKVQSNLLSPEGLSNICAQE KTTRFTSS in isoform 2.
VSP_014481
Natural variant3601S → T in NPHP3. Ref.1
VAR_022815
Natural variant3861N → S in NPHP3. Ref.1
Corresponds to variant rs142021049 [ dbSNP | Ensembl ].
VAR_022816
Natural variant3971R → H in NPHP3. Ref.1
VAR_022817
Natural variant9731R → Q in RHPD1. Ref.12
VAR_044121
Natural variant11411L → P in NPHP3. Ref.1
VAR_022818
Natural variant12211A → V in NPHP3. Ref.1
VAR_022819
Natural variant12521S → R in NPHP3. Ref.1
Corresponds to variant rs143451766 [ dbSNP | Ensembl ].
VAR_022820
Natural variant13051R → C.
Corresponds to variant rs35485382 [ dbSNP | Ensembl ].
VAR_044122
Natural variant13141S → T in NPHP3. Ref.1
Corresponds to variant rs75316802 [ dbSNP | Ensembl ].
VAR_022821

Experimental info

Sequence conflict2231T → TT in CAI46202. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: 99C1F17C9A5117F8

FASTA1,330150,864
        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 

« Hide

Isoform 2 [UniParc].

Checksum: B12632DACE1A9058
Show »

FASTA63773,014
Isoform 3 [UniParc].

Checksum: 8960364D3DFD50EA
Show »

FASTA63671,101
Isoform 4 [UniParc].

Checksum: F5B40DF9324E1D1E
Show »

FASTA18119,138
Isoform 5 [UniParc].

Checksum: 05AFCF865C45DC45
Show »

FASTA23926,342
Isoform 6 [UniParc].

Checksum: 6C99314707B4ED2C
Show »

FASTA70479,132
Isoform 7 [UniParc].

Checksum: 10593BB409D181B0
Show »

FASTA15015,798

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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]"Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression."
Frank V., Habbig S., Bartram M.P., Eisenberger T., Veenstra-Knol H.E., Decker C., Boorsma R.A., Goebel H., Nuernberg G., Griessmann A., Franke M., Borgal L., Kohli P., Voelker L.A., Doetsch J., Nuernberg P., Benzing T., Bolz H.J. expand/collapse author list , Johnson C., Gerkes E.H., Schermer B., Bergmann C.
Hum. Mol. Genet. 22:2177-2185(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NEK8.
[11]"ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3."
Hoff S., Halbritter J., Epting D., Frank V., Nguyen T.M., van Reeuwijk J., Boehlke C., Schell C., Yasunaga T., Helmstadter M., Mergen M., Filhol E., Boldt K., Horn N., Ueffing M., Otto E.A., Eisenberger T., Elting M.W. expand/collapse author list , van Wijk J.A., Bockenhauer D., Sebire N.J., Rittig S., Vyberg M., Ring T., Pohl M., Pape L., Neuhaus T.J., Elshakhs N.A., Koon S.J., Harris P.C., Grahammer F., Huber T.B., Kuehn E.W., Kramer-Zucker A., Bolz H.J., Roepman R., Saunier S., Walz G., Hildebrandt F., Bergmann C., Lienkamp S.S.
Nat. Genet. 45:951-956(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ANKS6; INVS AND NEK8.
[12]"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. expand/collapse author list , 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 RHPD1 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.
RefSeqNP_694972.3. NM_153240.4.
UniGeneHs.511991.

3D structure databases

ProteinModelPortalQ7Z494.
SMRQ7Z494. Positions 942-1295.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117962. 3 interactions.
IntActQ7Z494. 6 interactions.
MINTMINT-8411916.

PTM databases

PhosphoSiteQ7Z494.

Polymorphism databases

DMDM68565783.

Proteomic databases

PaxDbQ7Z494.
PRIDEQ7Z494.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000326682; ENSP00000319909; ENSG00000113971. [Q7Z494-6]
ENST00000337331; ENSP00000338766; ENSG00000113971. [Q7Z494-1]
ENST00000343113; ENSP00000344802; ENSG00000113971. [Q7Z494-5]
ENST00000383282; ENSP00000372769; ENSG00000113971. [Q7Z494-7]
ENST00000469232; ENSP00000418664; ENSG00000113971.
ENST00000471702; ENSP00000419763; ENSG00000113971. [Q7Z494-3]
GeneID27031.
KEGGhsa:27031.
UCSCuc003epd.2. human. [Q7Z494-2]
uc003epe.2. human. [Q7Z494-1]

Organism-specific databases

CTD27031.
GeneCardsGC03M132277.
GC03M132278.
H-InvDBHIX0003689.
HIX0030824.
HGNCHGNC:7907. NPHP3.
HPAHPA009150.
MIM208540. phenotype.
267010. phenotype.
604387. phenotype.
608002. gene.
neXtProtNX_Q7Z494.
Orphanet93589. Late-onset autosomal recessive medullary cystic kidney disease.
3032. NPHP3-related Meckel-like syndrome.
294415. Renal-hepatic-pancreatic dysplasia.
3156. Senior-Loken syndrome.
PharmGKBPA31708.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0457.
HOVERGENHBG079457.
InParanoidQ7Z494.
OMASMAAEYF.
OrthoDBEOG7VDXND.
PhylomeDBQ7Z494.
TreeFamTF314010.

Gene expression databases

ArrayExpressQ7Z494.
BgeeQ7Z494.
GenevestigatorQ7Z494.

Family and domain databases

Gene3D1.25.40.10. 2 hits.
3.40.50.300. 1 hit.
InterProIPR027417. P-loop_NTPase.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR019734. TPR_repeat.
[Graphical view]
PfamPF13176. TPR_7. 1 hit.
[Graphical view]
SMARTSM00028. TPR. 8 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
PROSITEPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNPHP3.
GenomeRNAi27031.
NextBio49564.
PROQ7Z494.
SOURCESearch...

Entry information

Entry nameNPHP3_HUMAN
AccessionPrimary (citable) accession number: Q7Z494
Secondary accession number(s): Q5JPE3 expand/collapse secondary AC list , 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: April 16, 2014
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM