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Q7Z494

- NPHP3_HUMAN

UniProt

Q7Z494 - NPHP3_HUMAN

Protein

Nephrocystin-3

Gene

NPHP3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 1 (01 Oct 2003)
      Previous versions | rss
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    Functioni

    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.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. atrial septum development Source: BHF-UCL
    2. cilium morphogenesis Source: UniProtKB
    3. convergent extension involved in gastrulation Source: BHF-UCL
    4. determination of intestine left/right asymmetry Source: BHF-UCL
    5. determination of left/right symmetry Source: BHF-UCL
    6. determination of liver left/right asymmetry Source: BHF-UCL
    7. determination of pancreatic left/right asymmetry Source: BHF-UCL
    8. determination of stomach left/right asymmetry Source: BHF-UCL
    9. epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
    10. establishment or maintenance of cell polarity Source: Ensembl
    11. extracellular matrix organization Source: Ensembl
    12. heart looping Source: BHF-UCL
    13. kidney development Source: BHF-UCL
    14. kidney morphogenesis Source: BHF-UCL
    15. lipid metabolic process Source: Ensembl
    16. lung development Source: BHF-UCL
    17. maintenance of organ identity Source: HGNC
    18. negative regulation of canonical Wnt signaling pathway Source: UniProtKB
    19. photoreceptor cell maintenance Source: HGNC
    20. regulation of cAMP metabolic process Source: Ensembl
    21. regulation of planar cell polarity pathway involved in neural tube closure Source: BHF-UCL
    22. regulation of Wnt signaling pathway, planar cell polarity pathway Source: UniProtKB
    23. ureter development Source: BHF-UCL
    24. Wnt signaling pathway Source: UniProtKB-KW

    Keywords - Biological processi

    Wnt signaling pathway

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nephrocystin-3
    Gene namesi
    Name:NPHP3
    Synonyms:KIAA2000
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:7907. NPHP3.

    Subcellular locationi

    Cell projectioncilium 2 Publications
    Note: Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.

    GO - Cellular componenti

    1. cilium Source: UniProtKB
    2. primary cilium Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti360 – 3601S → T in NPHP3. 1 Publication
    VAR_022815
    Natural varianti386 – 3861N → S in NPHP3. 1 Publication
    Corresponds to variant rs142021049 [ dbSNP | Ensembl ].
    VAR_022816
    Natural varianti397 – 3971R → H in NPHP3. 1 Publication
    VAR_022817
    Natural varianti1141 – 11411L → P in NPHP3. 1 Publication
    VAR_022818
    Natural varianti1221 – 12211A → V in NPHP3. 1 Publication
    VAR_022819
    Natural varianti1252 – 12521S → R in NPHP3. 1 Publication
    Corresponds to variant rs143451766 [ dbSNP | Ensembl ].
    VAR_022820
    Natural varianti1314 – 13141S → T in NPHP3. 1 Publication
    Corresponds to variant rs75316802 [ dbSNP | Ensembl ].
    VAR_022821
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti973 – 9731R → Q in RHPD1. 1 Publication
    VAR_044121
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Meckel syndrome, Nephronophthisis

    Organism-specific databases

    MIMi208540. phenotype.
    267010. phenotype.
    604387. phenotype.
    Orphaneti93589. Late-onset autosomal recessive medullary cystic kidney disease.
    3032. NPHP3-related Meckel-like syndrome.
    294415. Renal-hepatic-pancreatic dysplasia.
    3156. Senior-Loken syndrome.
    PharmGKBiPA31708.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed
    Chaini2 – 13301329Nephrocystin-3PRO_0000106301Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi2 – 21N-myristoyl glycine1 Publication

    Keywords - PTMi

    Lipoprotein, Myristate

    Proteomic databases

    MaxQBiQ7Z494.
    PaxDbiQ7Z494.
    PRIDEiQ7Z494.

    PTM databases

    PhosphoSiteiQ7Z494.

    Expressioni

    Tissue specificityi

    Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.1 Publication

    Gene expression databases

    ArrayExpressiQ7Z494.
    BgeeiQ7Z494.
    GenevestigatoriQ7Z494.

    Organism-specific databases

    HPAiHPA009150.

    Interactioni

    Subunit structurei

    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.6 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CEP164Q9UPV02EBI-2804263,EBI-3937015

    Protein-protein interaction databases

    BioGridi117962. 3 interactions.
    IntActiQ7Z494. 6 interactions.
    MINTiMINT-8411916.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z494.
    SMRiQ7Z494. Positions 942-1292.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati471 – 50434TPR 1Add
    BLAST
    Repeati885 – 91834TPR 2Add
    BLAST
    Repeati920 – 94223TPR 3Add
    BLAST
    Repeati943 – 97634TPR 4Add
    BLAST
    Repeati985 – 101834TPR 5Add
    BLAST
    Repeati1027 – 106034TPR 6Add
    BLAST
    Repeati1093 – 112634TPR 7Add
    BLAST
    Repeati1135 – 116834TPR 8Add
    BLAST
    Repeati1177 – 121034TPR 9Add
    BLAST
    Repeati1219 – 125234TPR 10Add
    BLAST
    Repeati1261 – 129434TPR 11Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili83 – 207125Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 11 TPR repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat, TPR repeat

    Phylogenomic databases

    eggNOGiCOG0457.
    HOVERGENiHBG079457.
    InParanoidiQ7Z494.
    OMAiSMAAEYF.
    OrthoDBiEOG7VDXND.
    PhylomeDBiQ7Z494.
    TreeFamiTF314010.

    Family and domain databases

    Gene3Di1.25.40.10. 2 hits.
    3.40.50.300. 1 hit.
    InterProiIPR027417. P-loop_NTPase.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR019734. TPR_repeat.
    [Graphical view]
    PfamiPF13176. TPR_7. 1 hit.
    [Graphical view]
    SMARTiSM00028. TPR. 8 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    PROSITEiPS50005. TPR. 8 hits.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q7Z494-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG     50
    AAAGAGPGSL PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI 100
    FRVSKNQELL SMGRREAKLD TENKRLRAEL QALQKTYQKI LREKESALEA 150
    KYQAMERAAT FEHDRDKVKR QFKIFRETKE NEIQDLLRAK RELESKLQRL 200
    QAQGIQVFDP GESDSDDNCT DVTAAGTQCE YWTGGALGSE PSIGSMIQLQ 250
    QSFRGPEFAH SSIDVEGPFA NVNRDDWDIA VASLLQVTPL FSHSLWSNTV 300
    RCYLIYTDET QPEMDLFLKD YSPKLKRMCE TMGYFFHAVY FPIDVENQYL 350
    TVRKWEIEKS SLVILFIHLT LPSLLLEDCE EAFLKNPEGK PRLIFHRLED 400
    GKVSSDSVQQ LIDQVSNLNK TSKAKIIDHS GDPAEGVYKT YICVEKIIKQ 450
    DILGFENTDL ETKDLGSEDS IPEEDDFGDV LWDIHDEQEQ METFQQASNS 500
    AHELGFEKYY QRLNDLVAAP APIPPLLVSG GPGSGKSLLL SKWIQLQQKN 550
    SPNTLILSHF VGRPMSTSSE SSLIIKRLTL KLMQHSWSVS ALTLDPAKLL 600
    EEFPRWLEKL SARHQGSIII VIDSIDQVQQ VEKHMKWLID PLPVNVRVIV 650
    SVNVETCPPA WRLWPTLHLD PLSPKDAKSI IIAECHSVDI KLSKEQEKKL 700
    ERHCRSATTC NALYVTLFGK MIARAGRAGN LDKILHQCFQ CQDTLSLYRL 750
    VLHSIRESMA NDVDKELMKQ ILCLVNVSHN GVSESELMEL YPEMSWTFLT 800
    SLIHSLYKMC LLTYGCGLLR FQHLQAWETV RLEYLEGPTV TSSYRQKLIN 850
    YFTLQLSQDR VTWRSADELP WLFQQQGSKQ KLHDCLLNLF VSQNLYKRGH 900
    FAELLSYWQF VGKDKSAMAT EYFDSLKQYE KNCEGEDNMS CLADLYETLG 950
    RFLKDLGLLS QAIVPLQRSL EIRETALDPD HPRVAQSLHQ LASVYVQWKK 1000
    FGNAEQLYKQ ALEISENAYG ADHPYTAREL EALATLYQKQ NKYEQAEHFR 1050
    KKSFKIHQKA IKKKGNLYGF ALLRRRALQL EELTLGKDTP DNARTLNELG 1100
    VLYYLQNNLE TADQFLKRSL EMRERVLGPD HPDCAQSLNN LAALCNEKKQ 1150
    YDKAEELYER ALDIRRRALA PDHPSLAYTV KHLAILYKKM GKLDKAVPLY 1200
    ELAVEIRQKS FGPKHPSVAT ALVNLAVLYS QMKKHVEALP LYERALKIYE 1250
    DSLGRMHPRV GETLKNLAVL SYEGGDFEKA AELYKRAMEI KEAETSLLGG 1300
    KAPSRHSSSG DTFSLKTAHS PNVFLQQGQR 1330
    Length:1,330
    Mass (Da):150,864
    Last modified:October 1, 2003 - v1
    Checksum:i99C1F17C9A5117F8
    GO
    Isoform 2 (identifier: Q7Z494-2) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:637
    Mass (Da):73,014
    Checksum:iB12632DACE1A9058
    GO
    Isoform 3 (identifier: Q7Z494-3) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:636
    Mass (Da):71,101
    Checksum:i8960364D3DFD50EA
    GO
    Isoform 4 (identifier: Q7Z494-4) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:181
    Mass (Da):19,138
    Checksum:iF5B40DF9324E1D1E
    GO
    Isoform 5 (identifier: Q7Z494-5) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:239
    Mass (Da):26,342
    Checksum:i05AFCF865C45DC45
    GO
    Isoform 6 (identifier: Q7Z494-6) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:704
    Mass (Da):79,132
    Checksum:i6C99314707B4ED2C
    GO
    Isoform 7 (identifier: Q7Z494-7) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:150
    Mass (Da):15,798
    Checksum:i10593BB409D181B0
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti223 – 2231T → TT in CAI46202. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti360 – 3601S → T in NPHP3. 1 Publication
    VAR_022815
    Natural varianti386 – 3861N → S in NPHP3. 1 Publication
    Corresponds to variant rs142021049 [ dbSNP | Ensembl ].
    VAR_022816
    Natural varianti397 – 3971R → H in NPHP3. 1 Publication
    VAR_022817
    Natural varianti973 – 9731R → Q in RHPD1. 1 Publication
    VAR_044121
    Natural varianti1141 – 11411L → P in NPHP3. 1 Publication
    VAR_022818
    Natural varianti1221 – 12211A → V in NPHP3. 1 Publication
    VAR_022819
    Natural varianti1252 – 12521S → R in NPHP3. 1 Publication
    Corresponds to variant rs143451766 [ dbSNP | Ensembl ].
    VAR_022820
    Natural varianti1305 – 13051R → C.
    Corresponds to variant rs35485382 [ dbSNP | Ensembl ].
    VAR_044122
    Natural varianti1314 – 13141S → T in NPHP3. 1 Publication
    Corresponds to variant rs75316802 [ dbSNP | Ensembl ].
    VAR_022821

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 720720Missing in isoform 2. 1 PublicationVSP_014480Add
    BLAST
    Alternative sequencei132 – 18150ALQKT…ETKEN → VTPGWAATPGDPWEARPSCS LSKPSGFESSAETAHFNLRG HILFESEMIP in isoform 4. 1 PublicationVSP_014482Add
    BLAST
    Alternative sequencei132 – 15019ALQKT…SALEA → GLAAVARSRLTATWNSWAQ in isoform 7. 1 PublicationVSP_014484Add
    BLAST
    Alternative sequencei151 – 13301180Missing in isoform 7. 1 PublicationVSP_014485Add
    BLAST
    Alternative sequencei182 – 13301149Missing in isoform 4. 1 PublicationVSP_014483Add
    BLAST
    Alternative sequencei224 – 23916AAGTQ…GALGS → VSLESDQHPGIFIANF in isoform 5. 1 PublicationVSP_014486Add
    BLAST
    Alternative sequencei240 – 13301091Missing in isoform 5. 1 PublicationVSP_014487Add
    BLAST
    Alternative sequencei630 – 6367QVEKHMK → VVAYTSS in isoform 3. 2 PublicationsVSP_014488
    Alternative sequencei637 – 1330694Missing in isoform 3. 2 PublicationsVSP_014489Add
    BLAST
    Alternative sequencei697 – 7048EKKLERHC → CWESRQFR in isoform 6. 1 PublicationVSP_014490
    Alternative sequencei705 – 1330626Missing in isoform 6. 1 PublicationVSP_014491Add
    BLAST
    Alternative sequencei1330 – 13301R → RKVQSNLLSPEGLSNICAQE KTTRFTSS in isoform 2. 1 PublicationVSP_014481

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS3078.1. [Q7Z494-1]
    RefSeqiNP_694972.3. NM_153240.4. [Q7Z494-1]
    UniGeneiHs.511991.

    Genome annotation databases

    EnsembliENST00000337331; ENSP00000338766; ENSG00000113971. [Q7Z494-1]
    ENST00000469232; ENSP00000418664; ENSG00000113971.
    GeneIDi27031.
    KEGGihsa:27031.
    UCSCiuc003epd.2. human. [Q7Z494-2]
    uc003epe.2. human. [Q7Z494-1]

    Polymorphism databases

    DMDMi68565783.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS3078.1. [Q7Z494-1 ]
    RefSeqi NP_694972.3. NM_153240.4. [Q7Z494-1 ]
    UniGenei Hs.511991.

    3D structure databases

    ProteinModelPortali Q7Z494.
    SMRi Q7Z494. Positions 942-1292.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117962. 3 interactions.
    IntActi Q7Z494. 6 interactions.
    MINTi MINT-8411916.

    PTM databases

    PhosphoSitei Q7Z494.

    Polymorphism databases

    DMDMi 68565783.

    Proteomic databases

    MaxQBi Q7Z494.
    PaxDbi Q7Z494.
    PRIDEi Q7Z494.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000337331 ; ENSP00000338766 ; ENSG00000113971 . [Q7Z494-1 ]
    ENST00000469232 ; ENSP00000418664 ; ENSG00000113971 .
    GeneIDi 27031.
    KEGGi hsa:27031.
    UCSCi uc003epd.2. human. [Q7Z494-2 ]
    uc003epe.2. human. [Q7Z494-1 ]

    Organism-specific databases

    CTDi 27031.
    GeneCardsi GC03M132277.
    GC03M132278.
    H-InvDB HIX0003689.
    HIX0030824.
    HGNCi HGNC:7907. NPHP3.
    HPAi HPA009150.
    MIMi 208540. phenotype.
    267010. phenotype.
    604387. phenotype.
    608002. gene.
    neXtProti NX_Q7Z494.
    Orphaneti 93589. Late-onset autosomal recessive medullary cystic kidney disease.
    3032. NPHP3-related Meckel-like syndrome.
    294415. Renal-hepatic-pancreatic dysplasia.
    3156. Senior-Loken syndrome.
    PharmGKBi PA31708.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0457.
    HOVERGENi HBG079457.
    InParanoidi Q7Z494.
    OMAi SMAAEYF.
    OrthoDBi EOG7VDXND.
    PhylomeDBi Q7Z494.
    TreeFami TF314010.

    Miscellaneous databases

    GeneWikii NPHP3.
    GenomeRNAii 27031.
    NextBioi 49564.
    PROi Q7Z494.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7Z494.
    Bgeei Q7Z494.
    Genevestigatori Q7Z494.

    Family and domain databases

    Gene3Di 1.25.40.10. 2 hits.
    3.40.50.300. 1 hit.
    InterProi IPR027417. P-loop_NTPase.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR019734. TPR_repeat.
    [Graphical view ]
    Pfami PF13176. TPR_7. 1 hit.
    [Graphical view ]
    SMARTi SM00028. TPR. 8 hits.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    PROSITEi PS50005. TPR. 8 hits.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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. 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. Cited for: INTERACTION WITH NEK8.
    11. Cited for: INTERACTION WITH ANKS6; INVS AND NEK8.
    12. Cited for: VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.

    Entry informationi

    Entry nameiNPHP3_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z494
    Secondary accession number(s): Q5JPE3
    , Q5JPE6, Q68D99, Q6NVH3, Q7Z492, Q7Z493, Q8N9R2, Q8NCM5, Q96N70, Q96NK2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2005
    Last sequence update: October 1, 2003
    Last modified: October 1, 2014
    This is version 105 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3