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O15259

- NPHP1_HUMAN

UniProt

O15259 - NPHP1_HUMAN

Protein

Nephrocystin-1

Gene

NPHP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 By similarity. Does not seem to be strictly required for ciliogenesis By similarity. Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis By similarity.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. structural molecule activity Source: UniProtKB

    GO - Biological processi

    1. actin cytoskeleton organization Source: UniProtKB
    2. cell projection organization Source: UniProtKB
    3. cellular protein localization Source: Ensembl
    4. excretion Source: ProtInc
    5. photoreceptor cell outer segment organization Source: Ensembl
    6. retina development in camera-type eye Source: UniProtKB
    7. signal transduction Source: UniProtKB
    8. single organismal cell-cell adhesion Source: UniProtKB
    9. spermatid differentiation Source: UniProtKB
    10. visual behavior Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation, Differentiation, Spermatogenesis

    Enzyme and pathway databases

    SignaLinkiO15259.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nephrocystin-1
    Alternative name(s):
    Juvenile nephronophthisis 1 protein
    Gene namesi
    Name:NPHP1
    Synonyms:NPH1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:7905. NPHP1.

    Subcellular locationi

    Cell junctionadherens junction By similarity. Cell projectioncilium. Cytoplasmcytoskeletoncilium axoneme. Cell junctiontight junction
    Note: Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions By similarity. Localized to respiratory cilia axoneme. Localized to the transition zone of respiratory cilia, photoreceptor-connecting cilia and renal monocilia. In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions.By similarity

    GO - Cellular componenti

    1. adherens junction Source: UniProtKB-SubCell
    2. cell-cell junction Source: UniProtKB
    3. cytoplasm Source: UniProtKB-KW
    4. cytoskeleton Source: UniProtKB-KW
    5. membrane Source: UniProtKB
    6. motile cilium Source: UniProtKB
    7. photoreceptor connecting cilium Source: UniProtKB
    8. tight junction Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Tight junction

    Pathology & Biotechi

    Involvement in diseasei

    Nephronophthisis 1 (NPHP1) [MIM:256100]: An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti342 – 3421G → R in NPHP1; associated with Cogan-type congenital ocular motor apraxia. 1 Publication
    Corresponds to variant rs121907899 [ dbSNP | Ensembl ].
    VAR_012160
    Senior-Loken syndrome 1 (SLSN1) [MIM:266900]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Joubert syndrome 4 (JBTS4) [MIM:609583]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 4 is a phenotypically mild form.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi121 – 1211S → A: Impairs interaction with PACS1; when associated with A-123 and A-126. 1 Publication
    Mutagenesisi123 – 1231S → A: Impairs interaction with PACS1; when associated with A-121 and A-126. 1 Publication
    Mutagenesisi126 – 1261S → A: Impairs interaction with PACS1; when associated with A-121 and A-123. 1 Publication
    Mutagenesisi180 – 1801L → P: Loss of SH3 domain fold. 1 Publication
    Mutagenesisi203 – 2031P → L: Does not affect fold stability, as assessed by circular dichroism thermal denaturation melting curves and by NMR spectroscopy. Affects interaction with PKD1. 1 Publication

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Joubert syndrome, Nephronophthisis, Senior-Loken syndrome

    Organism-specific databases

    MIMi256100. phenotype.
    266900. phenotype.
    609583. phenotype.
    Orphaneti220497. Joubert syndrome with renal defect.
    93592. Juvenile autosomal recessive medullary cystic kidney disease.
    3156. Senior-Loken syndrome.
    PharmGKBiPA31706.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 732732Nephrocystin-1PRO_0000159585Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei46 – 461Phosphotyrosine; by FAK21 Publication
    Modified residuei121 – 1211Phosphoserine; by CK21 Publication
    Modified residuei123 – 1231Phosphoserine; by CK21 Publication
    Modified residuei126 – 1261Phosphoserine; by CK21 Publication
    Modified residuei349 – 3491Phosphotyrosine; by FAK21 Publication
    Modified residuei721 – 7211Phosphotyrosine; by SRC1 Publication

    Post-translational modificationi

    Phosphorylation by CK2 is required for the interaction with PACS1 and the targeting to the base region of cilia.2 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO15259.
    PRIDEiO15259.

    PTM databases

    PhosphoSiteiO15259.

    Expressioni

    Tissue specificityi

    Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in nasal epithelial cells (at protein level).1 Publication

    Developmental stagei

    During in vitro ciliogenesis translocalizes from the cytoplasm to the ciliary transition zone during epithelial cell polarization.1 Publication

    Gene expression databases

    ArrayExpressiO15259.
    BgeeiO15259.
    CleanExiHS_NPHP1.
    GenevestigatoriO15259.

    Organism-specific databases

    HPAiHPA046093.

    Interactioni

    Subunit structurei

    Interacts with BCAR1, PTK2B/PYK2 and tensin. Interacts with INVS and NPHP3. Interacts with PACS1; the interaction is dependent on NPHP1 phosphorylation by CK2. Interacts with KIF7. Interacts with AHI1 and TNK2. Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L. Interacts with IQCB1; the interaction likely requires additional interactors.10 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ADAM15Q134442EBI-953828,EBI-77818
    PKD1P981612EBI-953828,EBI-1752013

    Protein-protein interaction databases

    BioGridi110927. 18 interactions.
    IntActiO15259. 6 interactions.
    MINTiMINT-2792475.
    STRINGi9606.ENSP00000313169.

    Structurei

    Secondary structure

    1
    732
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi155 – 1595
    Beta strandi166 – 1694
    Beta strandi175 – 1817
    Beta strandi186 – 1938
    Beta strandi195 – 1973
    Beta strandi199 – 2046
    Beta strandi207 – 2093

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1S1NNMR-A147-212[»]
    ProteinModelPortaliO15259.
    SMRiO15259. Positions 153-212.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO15259.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini152 – 21261SH3PROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili3 – 105103Sequence AnalysisAdd
    BLAST
    Coiled coili127 – 15024Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi116 – 14732Glu-richAdd
    BLAST
    Compositional biasi212 – 22716Glu-richAdd
    BLAST

    Domaini

    The SH3 domain mediates the stable interaction with Cas.By similarity

    Sequence similaritiesi

    Belongs to the nephrocystin-1 family.Curated
    Contains 1 SH3 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, SH3 domain

    Phylogenomic databases

    eggNOGiNOG85120.
    HOGENOMiHOG000231753.
    HOVERGENiHBG019088.
    OMAiEGNQFRA.
    OrthoDBiEOG7G4QDT.
    PhylomeDBiO15259.
    TreeFamiTF320679.

    Family and domain databases

    InterProiIPR001452. SH3_domain.
    [Graphical view]
    PfamiPF00018. SH3_1. 1 hit.
    [Graphical view]
    SMARTiSM00326. SH3. 1 hit.
    [Graphical view]
    SUPFAMiSSF50044. SSF50044. 1 hit.
    PROSITEiPS50002. SH3. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O15259-1) [UniParc]FASTAAdd to Basket

    Also known as: NPHP1

    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

    MLARRQRDPL QALRRRNQEL KQQVDSLLSE SQLKEALEPN KRQHIYQRCI    50
    QLKQAIDENK NALQKLSKAD ESAPVANYNQ RKEEEHTLLD KLTQQLQGLA 100
    VTISRENITE VGAPTEEEEE SESEDSEDSG GEEEDAEEEE EEKEENESHK 150
    WSTGEEYIAV GDFTAQQVGD LTFKKGEILL VIEKKPDGWW IAKDAKGNEG 200
    LVPRTYLEPY SEEEEGQESS EEGSEEDVEA VDETADGAEV KQRTDPHWSA 250
    VQKAISEAGI FCLVNHVSFC YLIVLMRNRM ETVEDTNGSE TGFRAWNVQS 300
    RGRIFLVSKP VLQINTVDVL TTMGAIPAGF RPSTLSQLLE EGNQFRANYF 350
    LQPELMPSQL AFRDLMWDAT EGTIRSRPSR ISLILTLWSC KMIPLPGMSI 400
    QVLSRHVRLC LFDGNKVLSN IHTVRATWQP KKPKTWTFSP QVTRILPCLL 450
    DGDCFIRSNS ASPDLGILFE LGISYIRNST GERGELSCGW VFLKLFDASG 500
    VPIPAKTYEL FLNGGTPYEK GIEVDPSISR RAHGSVFYQI MTMRRQPQLL 550
    VKLRSLNRRS RNVLSLLPET LIGNMCSIHL LIFYRQILGD VLLKDRMSLQ 600
    STDLISHPML ATFPMLLEQP DVMDALRSSW AGKESTLKRS EKRDKEFLKS 650
    TFLLVYHDCV LPLLHSTRLP PFRWAEEETE TARWKVITDF LKQNQENQGA 700
    LQALLSPDGV HEPFDLSEQT YDFLGEMRKN AV 732
    Length:732
    Mass (Da):83,299
    Last modified:January 1, 1998 - v1
    Checksum:i270125F56F2C50F7
    GO
    Isoform 2 (identifier: O15259-2) [UniParc]FASTAAdd to Basket

    Also known as: NPHP1-8A

    The sequence of this isoform differs from the canonical sequence as follows:
         258-312: Missing.

    Show »
    Length:677
    Mass (Da):77,041
    Checksum:iEB4C60DC4967021D
    GO
    Isoform 3 (identifier: O15259-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         49-110: Missing.
         258-313: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:614
    Mass (Da):69,909
    Checksum:iBBBDED56BF312D45
    GO
    Isoform 4 (identifier: O15259-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         313-313: Q → QQ

    Show »
    Length:733
    Mass (Da):83,428
    Checksum:iB3222151828658D8
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti342 – 3421G → R in NPHP1; associated with Cogan-type congenital ocular motor apraxia. 1 Publication
    Corresponds to variant rs121907899 [ dbSNP | Ensembl ].
    VAR_012160

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei49 – 11062Missing in isoform 3. 1 PublicationVSP_010073Add
    BLAST
    Alternative sequencei258 – 31356Missing in isoform 3. 1 PublicationVSP_010074Add
    BLAST
    Alternative sequencei258 – 31255Missing in isoform 2. 1 PublicationVSP_003424Add
    BLAST
    Alternative sequencei313 – 3131Q → QQ in isoform 4. 1 PublicationVSP_024381

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ001815 mRNA. Translation: CAA05030.1.
    AF023674 mRNA. Translation: AAC51771.1.
    AC013268 Genomic DNA. No translation available.
    AC140479 Genomic DNA. No translation available.
    BC009789 mRNA. No translation available.
    BC062574 mRNA. Translation: AAH62574.1.
    CCDSiCCDS2086.1. [O15259-4]
    CCDS46384.1. [O15259-3]
    CCDS46385.1. [O15259-1]
    CCDS46386.1. [O15259-2]
    RefSeqiNP_000263.2. NM_000272.3. [O15259-4]
    NP_001121650.1. NM_001128178.1. [O15259-2]
    NP_001121651.1. NM_001128179.1. [O15259-3]
    NP_997064.2. NM_207181.2. [O15259-1]
    UniGeneiHs.280388.

    Genome annotation databases

    EnsembliENST00000316534; ENSP00000313169; ENSG00000144061. [O15259-4]
    ENST00000355301; ENSP00000347452; ENSG00000144061. [O15259-3]
    ENST00000393272; ENSP00000376953; ENSG00000144061. [O15259-1]
    ENST00000445609; ENSP00000389879; ENSG00000144061. [O15259-2]
    GeneIDi4867.
    KEGGihsa:4867.
    UCSCiuc002tfl.4. human. [O15259-4]
    uc002tfm.4. human. [O15259-2]
    uc002tfn.4. human. [O15259-1]
    uc002tfo.4. human. [O15259-3]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ001815 mRNA. Translation: CAA05030.1 .
    AF023674 mRNA. Translation: AAC51771.1 .
    AC013268 Genomic DNA. No translation available.
    AC140479 Genomic DNA. No translation available.
    BC009789 mRNA. No translation available.
    BC062574 mRNA. Translation: AAH62574.1 .
    CCDSi CCDS2086.1. [O15259-4 ]
    CCDS46384.1. [O15259-3 ]
    CCDS46385.1. [O15259-1 ]
    CCDS46386.1. [O15259-2 ]
    RefSeqi NP_000263.2. NM_000272.3. [O15259-4 ]
    NP_001121650.1. NM_001128178.1. [O15259-2 ]
    NP_001121651.1. NM_001128179.1. [O15259-3 ]
    NP_997064.2. NM_207181.2. [O15259-1 ]
    UniGenei Hs.280388.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1S1N NMR - A 147-212 [» ]
    ProteinModelPortali O15259.
    SMRi O15259. Positions 153-212.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110927. 18 interactions.
    IntActi O15259. 6 interactions.
    MINTi MINT-2792475.
    STRINGi 9606.ENSP00000313169.

    PTM databases

    PhosphoSitei O15259.

    Proteomic databases

    PaxDbi O15259.
    PRIDEi O15259.

    Protocols and materials databases

    DNASUi 4867.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316534 ; ENSP00000313169 ; ENSG00000144061 . [O15259-4 ]
    ENST00000355301 ; ENSP00000347452 ; ENSG00000144061 . [O15259-3 ]
    ENST00000393272 ; ENSP00000376953 ; ENSG00000144061 . [O15259-1 ]
    ENST00000445609 ; ENSP00000389879 ; ENSG00000144061 . [O15259-2 ]
    GeneIDi 4867.
    KEGGi hsa:4867.
    UCSCi uc002tfl.4. human. [O15259-4 ]
    uc002tfm.4. human. [O15259-2 ]
    uc002tfn.4. human. [O15259-1 ]
    uc002tfo.4. human. [O15259-3 ]

    Organism-specific databases

    CTDi 4867.
    GeneCardsi GC02M110879.
    GeneReviewsi NPHP1.
    HGNCi HGNC:7905. NPHP1.
    HPAi HPA046093.
    MIMi 256100. phenotype.
    266900. phenotype.
    607100. gene.
    609583. phenotype.
    neXtProti NX_O15259.
    Orphaneti 220497. Joubert syndrome with renal defect.
    93592. Juvenile autosomal recessive medullary cystic kidney disease.
    3156. Senior-Loken syndrome.
    PharmGKBi PA31706.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG85120.
    HOGENOMi HOG000231753.
    HOVERGENi HBG019088.
    OMAi EGNQFRA.
    OrthoDBi EOG7G4QDT.
    PhylomeDBi O15259.
    TreeFami TF320679.

    Enzyme and pathway databases

    SignaLinki O15259.

    Miscellaneous databases

    ChiTaRSi NPHP1. human.
    EvolutionaryTracei O15259.
    GeneWikii NPHP1.
    GenomeRNAii 4867.
    NextBioi 18742.
    PROi O15259.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15259.
    Bgeei O15259.
    CleanExi HS_NPHP1.
    Genevestigatori O15259.

    Family and domain databases

    InterProi IPR001452. SH3_domain.
    [Graphical view ]
    Pfami PF00018. SH3_1. 1 hit.
    [Graphical view ]
    SMARTi SM00326. SH3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50044. SSF50044. 1 hit.
    PROSITEi PS50002. SH3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis."
      Saunier S., Calado J., Heilig R., Silbermann F., Benessy F., Morin G., Konrad M., Broyer M., Gubler M.-C., Weissenbach J., Antignac C.
      Hum. Mol. Genet. 6:2317-2323(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
      Tissue: Fetal kidney.
    2. "A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1."
      Hildebrandt F., Otto E., Rensing C., Nothwang H.G., Vollmer M., Adolphs J., Hanusch H., Brandis M.
      Nat. Genet. 17:149-153(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3-732 (ISOFORM 4), ALTERNATIVE SPLICING.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 3).
    5. "Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus."
      Caridi G., Murer L., Bellantuono R., Sorino P., Caringella D.A., Gusmano R., Ghiggeri G.M.
      Am. J. Kidney Dis. 32:1059-1062(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SLSN1.
    6. "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: INTERACTION WITH NPHP4.
    7. "Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination."
      Otto E.A., Schermer B., Obara T., O'Toole J.F., Hiller K.S., Mueller A.M., Ruf R.G., Hoefele J., Beekmann F., Landau D., Foreman J.W., Goodship J.A., Strachan T., Kispert A., Wolf M.T., Gagnadoux M.F., Nivet H., Antignac C.
      , Walz G., Drummond I.A., Benzing T., Hildebrandt F.
      Nat. Genet. 34:413-420(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH INVS.
    8. "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: INTERACTION WITH NPHP3.
    9. Cited for: PHOSPHORYLATION AT SER-121; SER-123 AND SER-126, MUTAGENESIS OF SER-121; SER-123 AND SER-126, INTERACTION WITH PACS1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    10. "The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome."
      Parisi M.A., Bennett C.L., Eckert M.L., Dobyns W.B., Gleeson J.G., Shaw D.W.W., McDonald R., Eddy A., Chance P.F., Glass I.A.
      Am. J. Hum. Genet. 75:82-91(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN JBTS4.
    11. "Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia."
      Fliegauf M., Horvath J., von Schnakenburg C., Olbrich H., Mueller D., Thumfart J., Schermer B., Pazour G.J., Neumann H.P., Zentgraf H., Benzing T., Omran H.
      J. Am. Soc. Nephrol. 17:2424-2433(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE.
    12. "Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct."
      Eley L., Moochhala S.H., Simms R., Hildebrandt F., Sayer J.A.
      Biochem. Biophys. Res. Commun. 371:877-882(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TNK2.
    13. "Jouberin localizes to collecting ducts and interacts with nephrocystin-1."
      Eley L., Gabrielides C., Adams M., Johnson C.A., Hildebrandt F., Sayer J.A.
      Kidney Int. 74:1139-1149(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH AHI1.
    14. "Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals."
      Wodarczyk C., Distefano G., Rowe I., Gaetani M., Bricoli B., Muorah M., Spitaleri A., Mannella V., Ricchiuto P., Pema M., Castelli M., Casanova A.E., Mollica L., Banzi M., Boca M., Antignac C., Saunier S., Musco G., Boletta A.
      PLoS ONE 5:E12719-E12719(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PKD1, MUTAGENESIS OF PRO-203.
    15. Cited for: SUBCELLULAR LOCATION, INTERACTION WITH IQCB1; INVS AND NPHP4.
    16. "Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia."
      Liebau M.C., Hopker K., Muller R.U., Schmedding I., Zank S., Schairer B., Fabretti F., Hohne M., Bartram M.P., Dafinger C., Hackl M., Burst V., Habbig S., Zentgraf H., Blaukat A., Walz G., Benzing T., Schermer B.
      J. Biol. Chem. 286:14237-14245(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PTK2B/PYK2, PHOSPHORYLATION AT TYR-46; TYR-349 AND TYR-721.
    17. Cited for: INTERACTION WITH KIF7.
    18. "Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis."
      le Maire A., Weber T., Saunier S., Broutin I., Antignac C., Ducruix A., Dardel F.
      Proteins 59:347-355(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 147-212, MUTAGENESIS OF LEU-180.
    19. "Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis."
      Betz R., Rensing C., Otto E., Mincheva A., Zehnder D., Lichter P., Hildebrandt F.
      J. Pediatr. 136:828-831(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NPHP1 ARG-342.

    Entry informationi

    Entry nameiNPHP1_HUMAN
    AccessioniPrimary (citable) accession number: O15259
    Secondary accession number(s): O14837
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 144 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

    Miscellaneous

    Nephronophthisis type 1 patients deficient for NPHP1 show normal overall integrity of respiratory cilia.

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3