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O75161

- NPHP4_HUMAN

UniProt

O75161 - NPHP4_HUMAN

Protein

Nephrocystin-4

Gene

NPHP4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 2 (27 Jan 2003)
      Previous versions | rss
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    Functioni

    Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis.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. hippo signaling Source: Reactome
    3. retina development in camera-type eye Source: Ensembl
    4. signal transduction Source: UniProtKB
    5. single organismal cell-cell adhesion Source: UniProtKB
    6. visual behavior Source: UniProtKB

    Enzyme and pathway databases

    ReactomeiREACT_118607. Signaling by Hippo.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nephrocystin-4
    Alternative name(s):
    Nephroretinin
    Gene namesi
    Name:NPHP4
    Synonyms:KIAA0673
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:19104. NPHP4.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell junctiontight junction
    Note: In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions.

    GO - Cellular componenti

    1. cell-cell junction Source: UniProtKB
    2. centrosome Source: UniProtKB
    3. cilium Source: UniProtKB-KW
    4. cytosol Source: Reactome
    5. membrane Source: UniProtKB
    6. tight junction Source: UniProtKB-SubCell

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Nephronophthisis 4 (NPHP4) [MIM:606966]: An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti342 – 3421R → C in NPHP4. 1 Publication
    Corresponds to variant rs190940697 [ dbSNP | Ensembl ].
    VAR_022529
    Natural varianti469 – 4691R → W in NPHP4. 1 Publication
    VAR_022530
    Natural varianti654 – 6541A → G in NPHP4. 1 Publication
    VAR_022534
    Natural varianti735 – 7351R → W in NPHP4. 1 Publication
    Corresponds to variant rs191913664 [ dbSNP | Ensembl ].
    VAR_022535
    Natural varianti754 – 7541G → R in NPHP4; affects interaction with RPGRIP1L. 1 Publication
    VAR_015214
    Natural varianti766 – 7661Q → R in NPHP4; with color blindness. 1 Publication
    VAR_022538
    Natural varianti776 – 7761P → R in NPHP4. 1 Publication
    Corresponds to variant rs201527181 [ dbSNP | Ensembl ].
    VAR_022539
    Natural varianti782 – 7821H → Q in NPHP4. 1 Publication
    VAR_022540
    Natural varianti961 – 9611R → H in NPHP4. 1 Publication
    Corresponds to variant rs183885357 [ dbSNP | Ensembl ].
    VAR_022543
    Natural varianti991 – 9911F → S in NPHP4. 1 Publication
    Corresponds to variant rs28940891 [ dbSNP | Ensembl ].
    VAR_015186
    Natural varianti1098 – 10981A → T in NPHP4. 1 Publication
    Corresponds to variant rs41280798 [ dbSNP | Ensembl ].
    VAR_022544
    Natural varianti1192 – 11921R → W in NPHP4. 1 Publication
    Corresponds to variant rs139022622 [ dbSNP | Ensembl ].
    VAR_022545
    Natural varianti1284 – 12841R → C in NPHP4. 1 Publication
    VAR_022547
    Natural varianti1287 – 12871Q → E in NPHP4; with hearing loss. 1 Publication
    VAR_022548
    Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4, influence the clinical outcome.
    Senior-Loken syndrome 4 (SLSN4) [MIM:606996]: 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31D → Y in SLSN4. 1 Publication
    Corresponds to variant rs145078518 [ dbSNP | Ensembl ].
    VAR_022526
    Natural varianti91 – 911F → L in SLSN4. 1 Publication
    VAR_022528
    Natural varianti627 – 6271T → M in SLSN4. 1 Publication
    Corresponds to variant rs199891059 [ dbSNP | Ensembl ].
    VAR_022533
    Natural varianti946 – 9461T → A in SLSN4. 1 Publication
    VAR_022542
    Natural varianti1225 – 12251T → M in SLSN4. 1 Publication
    Corresponds to variant rs144624477 [ dbSNP | Ensembl ].
    VAR_022546

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Nephronophthisis, Senior-Loken syndrome

    Organism-specific databases

    MIMi606966. phenotype.
    606996. phenotype.
    Orphaneti93592. Juvenile autosomal recessive medullary cystic kidney disease.
    3156. Senior-Loken syndrome.
    PharmGKBiPA134927048.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 14261426Nephrocystin-4PRO_0000159769Add
    BLAST

    Proteomic databases

    MaxQBiO75161.
    PaxDbiO75161.
    PRIDEiO75161.

    PTM databases

    PhosphoSiteiO75161.

    Expressioni

    Tissue specificityi

    Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.1 Publication

    Gene expression databases

    ArrayExpressiO75161.
    BgeeiO75161.
    CleanExiHS_NPHP4.
    GenevestigatoriO75161.

    Interactioni

    Subunit structurei

    Interacts with NPHP1 and RPGRIP1L/NPHP8, and can bridge the interaction between those two proteins. Interacts with IQCB1; the interaction likely requires additional interactors. Interacts with RPGRIP1. Weakly interacts with CEP164.5 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    RPGRIP1LQ68CZ1-27EBI-4281852,EBI-9356215

    Protein-protein interaction databases

    BioGridi129286. 5 interactions.
    IntActiO75161. 39 interactions.
    STRINGi9606.ENSP00000367398.

    Structurei

    3D structure databases

    ProteinModelPortaliO75161.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the NPHP4 family.Curated

    Phylogenomic databases

    eggNOGiNOG81663.
    HOGENOMiHOG000049142.
    HOVERGENiHBG024036.
    InParanoidiO75161.
    KOiK16478.
    OMAiHMVRWAV.
    PhylomeDBiO75161.
    TreeFamiTF351573.

    Family and domain databases

    InterProiIPR029775. NPHP4.
    [Graphical view]
    PANTHERiPTHR31043:SF3. PTHR31043:SF3. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O75161-1) [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

    MNDWHRIFTQ NVLVPPHPQR ARQPWKESTA FQCVLKWLDG PVIRQGVLEV     50
    LSEVECHLRV SFFDVTYRHF FGRTWKTTVK PTKRPPSRIV FNEPLYFHTS 100
    LNHPHIVAVV EVVAEGKKRD GSLQTLSCGF GILRIFSNQP DSPISASQDK 150
    RLRLYHGTPR ALLHPLLQDP AEQNRHMTLI ENCSLQYTLK PHPALEPAFH 200
    LLPENLLVSG LQQIPGLLPA HGESGDALRK PRLQKPITGH LDDLFFTLYP 250
    SLEKFEEELL ELHVQDHFQE GCGPLDGGAL EILERRLRVG VHNGLGFVQR 300
    PQVVVLVPEM DVALTRSASF SRKVVSSSKT SSGSQALVLR SRLRLPEMVG 350
    HPAFAVIFQL EYVFSSPAGV DGNAASVTSL SNLACMHMVR WAVWNPLLEA 400
    DSGRVTLPLQ GGIQPNPSHC LVYKVPSASM SSEEVKQVES GTLRFQFSLG 450
    SEEHLDAPTE PVSGPKVERR PSRKPPTSPS SPPAPVPRVL AAPQNSPVGP 500
    GLSISQLAAS PRSPTQHCLA RPTSQLPHGS QASPAQAQEF PLEAGISHLE 550
    ADLSQTSLVL ETSIAEQLQE LPFTPLHAPI VVGTQTRSSA GQPSRASMVL 600
    LQSSGFPEIL DANKQPAEAV SATEPVTFNP QKEESDCLQS NEMVLQFLAF 650
    SRVAQDCRGT SWPKTVYFTF QFYRFPPATT PRLQLVQLDE AGQPSSGALT 700
    HILVPVSRDG TFDAGSPGFQ LRYMVGPGFL KPGERRCFAR YLAVQTLQID 750
    VWDGDSLLLI GSAAVQMKHL LRQGRPAVQA SHELEVVATE YEQDNMVVSG 800
    DMLGFGRVKP IGVHSVVKGR LHLTLANVGH PCEQKVRGCS TLPPSRSRVI 850
    SNDGASRFSG GSLLTTGSSR RKHVVQAQKL ADVDSELAAM LLTHARQGKG 900
    PQDVSRESDA TRRRKLERMR SVRLQEAGGD LGRRGTSVLA QQSVRTQHLR 950
    DLQVIAAYRE RTKAESIASL LSLAITTEHT LHATLGVAEF FEFVLKNPHN 1000
    TQHTVTVEID NPELSVIVDS QEWRDFKGAA GLHTPVEEDM FHLRGSLAPQ 1050
    LYLRPHETAH VPFKFQSFSA GQLAMVQASP GLSNEKGMDA VSPWKSSAVP 1100
    TKHAKVLFRA SGGKPIAVLC LTVELQPHVV DQVFRFYHPE LSFLKKAIRL 1150
    PPWHTFPGAP VGMLGEDPPV HVRCSDPNVI CETQNVGPGE PRDIFLKVAS 1200
    GPSPEIKDFF VIIYSDRWLA TPTQTWQVYL HSLQRVDVSC VAGQLTRLSL 1250
    VLRGTQTVRK VRAFTSHPQE LKTDPKGVFV LPPRGVQDLH VGVRPLRAGS 1300
    RFVHLNLVDV DCHQLVASWL VCLCCRQPLI SKAFEIMLAA GEGKGVNKRI 1350
    TYTNPYPSRR TFHLHSDHPE LLRFREDSFQ VGGGETYTIG LQFAPSQRVG 1400
    EEEILIYIND HEDKNEEAFC VKVIYQ 1426
    Length:1,426
    Mass (Da):157,598
    Last modified:January 27, 2003 - v2
    Checksum:i8C974278F4EE4505
    GO
    Isoform 2 (identifier: O75161-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         538-538: Missing.
         872-912: KHVVQAQKLA...DVSRESDATR → WALQATVLFG...NGEKVRRNID
         913-1426: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:911
    Mass (Da):99,953
    Checksum:i070AACB893EEDFC7
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31D → Y in SLSN4. 1 Publication
    Corresponds to variant rs145078518 [ dbSNP | Ensembl ].
    VAR_022526
    Natural varianti29 – 291T → M.1 Publication
    Corresponds to variant rs12142270 [ dbSNP | Ensembl ].
    VAR_022527
    Natural varianti91 – 911F → L in SLSN4. 1 Publication
    VAR_022528
    Natural varianti160 – 1601R → L in a patient with nephronophthisis with extra-renal features; the patient also carries W-735 in the same gene and L-209 in TTC21B. 1 Publication
    VAR_065557
    Natural varianti342 – 3421R → C in NPHP4. 1 Publication
    Corresponds to variant rs190940697 [ dbSNP | Ensembl ].
    VAR_022529
    Natural varianti469 – 4691R → W in NPHP4. 1 Publication
    VAR_022530
    Natural varianti544 – 5441A → G.1 Publication
    Corresponds to variant rs12093500 [ dbSNP | Ensembl ].
    VAR_022531
    Natural varianti618 – 6181E → K.1 Publication
    Corresponds to variant rs571655 [ dbSNP | Ensembl ].
    VAR_022532
    Natural varianti627 – 6271T → M in SLSN4. 1 Publication
    Corresponds to variant rs199891059 [ dbSNP | Ensembl ].
    VAR_022533
    Natural varianti654 – 6541A → G in NPHP4. 1 Publication
    VAR_022534
    Natural varianti735 – 7351R → W in NPHP4. 1 Publication
    Corresponds to variant rs191913664 [ dbSNP | Ensembl ].
    VAR_022535
    Natural varianti740 – 7401R → H Does not affect interaction with RPGRIP1L. 1 Publication
    Corresponds to variant rs34248917 [ dbSNP | Ensembl ].
    VAR_022536
    Natural varianti754 – 7541G → R in NPHP4; affects interaction with RPGRIP1L. 1 Publication
    VAR_015214
    Natural varianti765 – 7651V → I.1 Publication
    Corresponds to variant rs149244006 [ dbSNP | Ensembl ].
    VAR_022537
    Natural varianti766 – 7661Q → R in NPHP4; with color blindness. 1 Publication
    VAR_022538
    Natural varianti776 – 7761P → R in NPHP4. 1 Publication
    Corresponds to variant rs201527181 [ dbSNP | Ensembl ].
    VAR_022539
    Natural varianti782 – 7821H → Q in NPHP4. 1 Publication
    VAR_022540
    Natural varianti848 – 8481R → W Does not affect interaction with RPGRIP1L. 2 Publications
    Corresponds to variant rs17472401 [ dbSNP | Ensembl ].
    VAR_015215
    Natural varianti939 – 9391L → Q.
    Corresponds to variant rs1287637 [ dbSNP | Ensembl ].
    VAR_037622
    Natural varianti940 – 9412Missing.
    VAR_022541
    Natural varianti946 – 9461T → A in SLSN4. 1 Publication
    VAR_022542
    Natural varianti959 – 9591R → Q.
    Corresponds to variant rs12084067 [ dbSNP | Ensembl ].
    VAR_037623
    Natural varianti961 – 9611R → H in NPHP4. 1 Publication
    Corresponds to variant rs183885357 [ dbSNP | Ensembl ].
    VAR_022543
    Natural varianti991 – 9911F → S in NPHP4. 1 Publication
    Corresponds to variant rs28940891 [ dbSNP | Ensembl ].
    VAR_015186
    Natural varianti1098 – 10981A → T in NPHP4. 1 Publication
    Corresponds to variant rs41280798 [ dbSNP | Ensembl ].
    VAR_022544
    Natural varianti1192 – 11921R → W in NPHP4. 1 Publication
    Corresponds to variant rs139022622 [ dbSNP | Ensembl ].
    VAR_022545
    Natural varianti1225 – 12251T → M in SLSN4. 1 Publication
    Corresponds to variant rs144624477 [ dbSNP | Ensembl ].
    VAR_022546
    Natural varianti1284 – 12841R → C in NPHP4. 1 Publication
    VAR_022547
    Natural varianti1287 – 12871Q → E in NPHP4; with hearing loss. 1 Publication
    VAR_022548

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei538 – 5381Missing in isoform 2. 1 PublicationVSP_054514
    Alternative sequencei872 – 91241KHVVQ…SDATR → WALQATVLFGEVGTLPVAFV SGWLLICKGRRNGEKVRRNI D in isoform 2. 1 PublicationVSP_054515Add
    BLAST
    Alternative sequencei913 – 1426514Missing in isoform 2. 1 PublicationVSP_054516Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY118228 mRNA. Translation: AAM78558.1.
    AF537130 mRNA. Translation: AAN06814.1.
    AL035406 Genomic DNA. No translation available.
    AL356261 Genomic DNA. No translation available.
    AL356693 Genomic DNA. No translation available.
    CH471130 Genomic DNA. Translation: EAW71509.1.
    BC040520 mRNA. Translation: AAH40520.1.
    AB014573 mRNA. Translation: BAA31648.1.
    CCDSiCCDS44052.1. [O75161-1]
    PIRiT00364.
    RefSeqiNP_001278522.1. NM_001291593.1.
    NP_001278523.1. NM_001291594.1.
    NP_055917.1. NM_015102.4. [O75161-1]
    XP_006710626.1. XM_006710563.1. [O75161-1]
    XP_006710627.1. XM_006710564.1. [O75161-1]
    XP_006710628.1. XM_006710565.1. [O75161-1]
    UniGeneiHs.462348.

    Genome annotation databases

    EnsembliENST00000378156; ENSP00000367398; ENSG00000131697. [O75161-1]
    ENST00000489180; ENSP00000423747; ENSG00000131697. [O75161-2]
    GeneIDi261734.
    KEGGihsa:261734.
    UCSCiuc001alq.2. human. [O75161-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY118228 mRNA. Translation: AAM78558.1 .
    AF537130 mRNA. Translation: AAN06814.1 .
    AL035406 Genomic DNA. No translation available.
    AL356261 Genomic DNA. No translation available.
    AL356693 Genomic DNA. No translation available.
    CH471130 Genomic DNA. Translation: EAW71509.1 .
    BC040520 mRNA. Translation: AAH40520.1 .
    AB014573 mRNA. Translation: BAA31648.1 .
    CCDSi CCDS44052.1. [O75161-1 ]
    PIRi T00364.
    RefSeqi NP_001278522.1. NM_001291593.1.
    NP_001278523.1. NM_001291594.1.
    NP_055917.1. NM_015102.4. [O75161-1 ]
    XP_006710626.1. XM_006710563.1. [O75161-1 ]
    XP_006710627.1. XM_006710564.1. [O75161-1 ]
    XP_006710628.1. XM_006710565.1. [O75161-1 ]
    UniGenei Hs.462348.

    3D structure databases

    ProteinModelPortali O75161.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129286. 5 interactions.
    IntActi O75161. 39 interactions.
    STRINGi 9606.ENSP00000367398.

    PTM databases

    PhosphoSitei O75161.

    Proteomic databases

    MaxQBi O75161.
    PaxDbi O75161.
    PRIDEi O75161.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378156 ; ENSP00000367398 ; ENSG00000131697 . [O75161-1 ]
    ENST00000489180 ; ENSP00000423747 ; ENSG00000131697 . [O75161-2 ]
    GeneIDi 261734.
    KEGGi hsa:261734.
    UCSCi uc001alq.2. human. [O75161-1 ]

    Organism-specific databases

    CTDi 261734.
    GeneCardsi GC01M005922.
    HGNCi HGNC:19104. NPHP4.
    MIMi 606966. phenotype.
    606996. phenotype.
    607215. gene.
    neXtProti NX_O75161.
    Orphaneti 93592. Juvenile autosomal recessive medullary cystic kidney disease.
    3156. Senior-Loken syndrome.
    PharmGKBi PA134927048.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG81663.
    HOGENOMi HOG000049142.
    HOVERGENi HBG024036.
    InParanoidi O75161.
    KOi K16478.
    OMAi HMVRWAV.
    PhylomeDBi O75161.
    TreeFami TF351573.

    Enzyme and pathway databases

    Reactomei REACT_118607. Signaling by Hippo.

    Miscellaneous databases

    GeneWikii NPHP4.
    GenomeRNAii 261734.
    NextBioi 93236.
    PROi O75161.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75161.
    Bgeei O75161.
    CleanExi HS_NPHP4.
    Genevestigatori O75161.

    Family and domain databases

    InterProi IPR029775. NPHP4.
    [Graphical view ]
    PANTHERi PTHR31043:SF3. PTHR31043:SF3. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin."
      Mollet G., Salomon R., Gribouval O., Silbermann F., Bacq D., Landthaler G., Milford D., Nayir A., Rizzoni G., Antignac C., Saunier S.
      Nat. Genet. 32:300-305(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT NPHP4 SER-991, INVOLVEMENT IN SLSN4, TISSUE SPECIFICITY, INTERACTION WITH NPHP1.
    2. "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution."
      Otto E., Hoefele J., Ruf R., Mueller A.M., Hiller K.S., Wolf M.T.F., Schuermann M.J., Becker A., Birkenhaeger R., Sudbrack R., Hennies H.C., Nuernberg P., Hildebrandt F.
      Am. J. Hum. Genet. 71:1161-1167(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT NPHP4 ARG-754, VARIANT TRP-848.
      Tissue: Kidney.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    6. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 212-1426 (ISOFORM 1).
      Tissue: Brain.
    7. Cited for: INTERACTION WITH RPGRIP1L, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT NPHP4 ARG-754, CHARACTERIZATION OF VARIANTS HIS-740 AND TRP-848.
    8. Cited for: SUBCELLULAR LOCATION, SUBUNIT, INTERACTION WITH NPHP1; RPGRIP1L AND IQCB1.
    9. Cited for: INTERACTION WITH RPGRIP1.
    10. Cited for: INVOLVEMENT IN CILIOPATHIES, VARIANT LEU-160.
    11. "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.
    12. Cited for: VARIANTS NPHP4 CYS-342; TRP-469; GLY-654; TRP-735; ARG-766; ARG-776; GLN-782; HIS-961; THR-1098; TRP-1192; CYS-1284 AND GLU-1287, VARIANTS SLSN4 TYR-3; LEU-91; MET-627; ALA-946 AND MET-1225, VARIANTS MET-29; GLY-544; LYS-618; HIS-740; ILE-765; TRP-848 AND 940-ALA-GLN-941 DEL.

    Entry informationi

    Entry nameiNPHP4_HUMAN
    AccessioniPrimary (citable) accession number: O75161
    Secondary accession number(s): Q8IWC0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 27, 2003
    Last sequence update: January 27, 2003
    Last modified: October 1, 2014
    This is version 110 of the entry and version 2 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 1
      Human chromosome 1: 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