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Q00604

- NDP_HUMAN

UniProt

Q00604 - NDP_HUMAN

Protein

Norrin

Gene

NDP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.

    GO - Molecular functioni

    1. frizzled binding Source: BHF-UCL
    2. growth factor activity Source: ProtInc
    3. protein binding Source: IntAct
    4. protein homodimerization activity Source: BHF-UCL

    GO - Biological processi

    1. canonical Wnt signaling pathway Source: BHF-UCL
    2. cell-cell signaling Source: ProtInc
    3. cell proliferation Source: ProtInc
    4. extracellular matrix-cell signaling Source: Ensembl
    5. nervous system development Source: ProtInc
    6. placenta development Source: Ensembl
    7. positive regulation of sequence-specific DNA binding transcription factor activity Source: Ensembl
    8. positive regulation of transcription, DNA-templated Source: BHF-UCL
    9. retina vasculature morphogenesis in camera-type eye Source: Ensembl
    10. sensory perception of sound Source: ProtInc
    11. signal transduction Source: ProtInc
    12. vacuole organization Source: ProtInc
    13. visual perception Source: ProtInc
    14. Wnt signaling pathway Source: BHF-UCL

    Keywords - Biological processi

    Sensory transduction, Vision, Wnt signaling pathway

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Norrin
    Alternative name(s):
    Norrie disease protein
    X-linked exudative vitreoretinopathy 2 protein
    Gene namesi
    Name:NDP
    Synonyms:EVR2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:7678. NDP.

    Subcellular locationi

    Secreted 1 Publication

    GO - Cellular componenti

    1. cell surface Source: BHF-UCL
    2. extracellular matrix Source: BHF-UCL
    3. extracellular space Source: BHF-UCL

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Norrie disease (ND) [MIM:310600]: Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure.27 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131L → R in ND. 1 Publication
    VAR_005478
    Natural varianti16 – 161L → P in ND. 1 Publication
    VAR_016048
    Natural varianti38 – 381R → C in ND and EVR2. 2 Publications
    VAR_063999
    Natural varianti39 – 391C → R in ND. 2 Publications
    VAR_005479
    Natural varianti43 – 431H → Q in ND. 1 Publication
    VAR_064001
    Natural varianti43 – 431H → R in ND. 1 Publication
    VAR_064002
    Natural varianti44 – 441Y → C in ND. 2 Publications
    VAR_005482
    Natural varianti45 – 451V → E in ND. 1 Publication
    VAR_064003
    Natural varianti45 – 451V → M in ND. 1 Publication
    VAR_064004
    Natural varianti55 – 551C → R in ND. 1 Publication
    VAR_064006
    Natural varianti58 – 581K → N in ND and EVR2. 2 Publications
    VAR_005483
    Natural varianti60 – 601V → E in ND; reduction of protein amount in the extracellular matrix. 1 Publication
    VAR_005484
    Natural varianti61 – 611L → F in ND. 2 Publications
    VAR_005485
    Natural varianti61 – 611L → P in ND. 1 Publication
    VAR_005486
    Natural varianti63 – 631A → D in ND. 1 Publication
    VAR_005487
    Natural varianti65 – 651C → W in ND. 1 Publication
    VAR_005490
    Natural varianti65 – 651C → Y in ND. 2 Publications
    VAR_005488
    Natural varianti67 – 671G → E in ND. 1 Publication
    VAR_064008
    Natural varianti67 – 671G → R in ND. 1 Publication
    VAR_064009
    Natural varianti69 – 691C → S in ND. 1 Publication
    VAR_005489
    Natural varianti74 – 741R → C in ND. 3 Publications
    VAR_005491
    Natural varianti75 – 751S → C in ND. 1 Publication
    VAR_005492
    Natural varianti75 – 751S → P in ND. 1 Publication
    VAR_016049
    Natural varianti89 – 891F → L in ND. 1 Publication
    VAR_064010
    Natural varianti90 – 901R → C in ND. 1 Publication
    VAR_064011
    Natural varianti90 – 901R → P in ND. 1 Publication
    VAR_005494
    Natural varianti92 – 921S → P in ND. 1 Publication
    VAR_064012
    Natural varianti94 – 963HCC → QCGL in ND.
    VAR_005495
    Natural varianti95 – 951C → F in ND. 1 Publication
    VAR_064013
    Natural varianti95 – 951C → R in ND. 1 Publication
    VAR_064014
    Natural varianti96 – 961C → W in ND. 1 Publication
    VAR_009275
    Natural varianti96 – 961C → Y in ND. 3 Publications
    VAR_005496
    Natural varianti97 – 971R → P in ND. 1 Publication
    VAR_064015
    Natural varianti98 – 981P → L in ND. 1 Publication
    VAR_064016
    Natural varianti101 – 1011S → F in ND. 1 Publication
    VAR_005497
    Natural varianti104 – 1041K → N in ND. 1 Publication
    VAR_064018
    Natural varianti104 – 1041K → Q in ND. 1 Publication
    VAR_005498
    Natural varianti105 – 1051A → T in ND. 1 Publication
    VAR_016050
    Natural varianti110 – 1101C → G in ND. 1 Publication
    VAR_016051
    Natural varianti110 – 1101C → R in ND. 1 Publication
    VAR_064020
    Natural varianti112 – 1121G → E in ND. 1 Publication
    VAR_064021
    Natural varianti118 – 1181A → D in ND. 1 Publication
    VAR_064023
    Natural varianti121 – 1233Missing in ND.
    VAR_005503
    Natural varianti121 – 1211R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 3 Publications
    VAR_005501
    Natural varianti121 – 1211R → W in ND and EVR2. 2 Publications
    VAR_005502
    Natural varianti123 – 1231I → N in ND. 1 Publication
    VAR_005504
    Natural varianti126 – 1261C → S in ND. 1 Publication
    VAR_064025
    Natural varianti128 – 1281C → R in ND. 1 Publication
    VAR_064026
    Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390]: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti18 – 181I → K in EVR2; the patient presented significant phenotypic heterogeneity between the two eyes. 1 Publication
    VAR_063998
    Natural varianti38 – 381R → C in ND and EVR2. 2 Publications
    VAR_063999
    Natural varianti41 – 411R → K in EVR2. 1 Publication
    VAR_005480
    Natural varianti42 – 421H → R in EVR2. 2 Publications
    VAR_005481
    Natural varianti54 – 541K → N in EVR2. 1 Publication
    VAR_064005
    Natural varianti58 – 581K → N in ND and EVR2. 2 Publications
    VAR_005483
    Natural varianti61 – 611L → I in EVR2. 1 Publication
    VAR_064007
    Natural varianti103 – 1031L → V in EVR2. 1 Publication
    VAR_064017
    Natural varianti115 – 1151R → L in EVR2. 1 Publication
    VAR_064022
    Natural varianti120 – 1201Y → C in EVR2. 1 Publication
    VAR_005499
    Natural varianti121 – 1211R → G in EVR2.
    VAR_005500
    Natural varianti121 – 1211R → L in EVR2. 1 Publication
    VAR_064024
    Natural varianti121 – 1211R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 3 Publications
    VAR_005501
    Natural varianti121 – 1211R → W in ND and EVR2. 2 Publications
    VAR_005502
    Natural varianti124 – 1241L → F in EVR2. 1 Publication
    Corresponds to variant rs28933684 [ dbSNP | Ensembl ].
    VAR_005505

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi95 – 951C → A: Impairs oligomerization. 1 Publication

    Keywords - Diseasei

    Deafness, Disease mutation

    Organism-specific databases

    MIMi305390. phenotype.
    310600. phenotype.
    Orphaneti190. Coats disease.
    891. Familial exudative vitreoretinopathy.
    649. Norrie disease.
    91495. Persistent hyperplastic primary vitreous.
    90050. Retinopathy of prematurity.
    PharmGKBiPA31481.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Sequence AnalysisAdd
    BLAST
    Chaini25 – 133109NorrinPRO_0000021794Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi? ↔ 131PROSITE-ProRule annotation
    Disulfide bondi39 ↔ 96PROSITE-ProRule annotation
    Disulfide bondi55 ↔ 110PROSITE-ProRule annotation
    Disulfide bondi65 ↔ 126PROSITE-ProRule annotation
    Disulfide bondi69 ↔ 128PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    PaxDbiQ00604.
    PRIDEiQ00604.

    Expressioni

    Tissue specificityi

    Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.1 Publication

    Gene expression databases

    BgeeiQ00604.
    CleanExiHS_NDP.
    GenevestigatoriQ00604.

    Organism-specific databases

    HPAiHPA003095.

    Interactioni

    Subunit structurei

    Interacts with FZD4. Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP) By similarity. Oligomer; disulfide-linked.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    FZD4Q9ULV14EBI-2466352,EBI-2466380

    Protein-protein interaction databases

    BioGridi110773. 6 interactions.
    IntActiQ00604. 4 interactions.
    STRINGi9606.ENSP00000367301.

    Structurei

    Secondary structure

    1
    133
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi38 – 4811
    Beta strandi51 – 533
    Beta strandi58 – 669
    Beta strandi74 – 774
    Beta strandi82 – 843
    Beta strandi88 – 925
    Beta strandi94 – 10815
    Beta strandi110 – 1134
    Beta strandi116 – 13116

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4MY2X-ray2.40A30-133[»]
    ProteinModelPortaliQ00604.
    SMRiQ00604. Positions 1-133.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini39 – 13294CTCKPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 CTCK (C-terminal cystine knot-like) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG270934.
    HOGENOMiHOG000030892.
    HOVERGENiHBG004945.
    InParanoidiQ00604.
    OMAiKQPFRST.
    OrthoDBiEOG7W41DV.
    PhylomeDBiQ00604.

    Family and domain databases

    InterProiIPR006207. Cys_knot_C.
    IPR006208. Glyco_hormone_CN.
    IPR003064. Norrie_dis.
    [Graphical view]
    PfamiPF00007. Cys_knot. 1 hit.
    [Graphical view]
    PRINTSiPR01304. NORRIEDSEASE.
    SMARTiSM00041. CT. 1 hit.
    [Graphical view]
    PROSITEiPS01185. CTCK_1. 1 hit.
    PS01225. CTCK_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q00604-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRKHVLAASF SMLSLLVIMG DTDSKTDSSF IMDSDPRRCM RHHYVDSISH    50
    PLYKCSSKMV LLARCEGHCS QASRSEPLVS FSTVLKQPFR SSCHCCRPQT 100
    SKLKALRLRC SGGMRLTATY RYILSCHCEE CNS 133
    Length:133
    Mass (Da):15,044
    Last modified:June 1, 1994 - v1
    Checksum:iD219E8B7F957286A
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131L → R in ND. 1 Publication
    VAR_005478
    Natural varianti16 – 161L → P in ND. 1 Publication
    VAR_016048
    Natural varianti18 – 181I → K in EVR2; the patient presented significant phenotypic heterogeneity between the two eyes. 1 Publication
    VAR_063998
    Natural varianti23 – 231D → E.
    Corresponds to variant rs5952410 [ dbSNP | Ensembl ].
    VAR_034137
    Natural varianti38 – 381R → C in ND and EVR2. 2 Publications
    VAR_063999
    Natural varianti39 – 391C → R in ND. 2 Publications
    VAR_005479
    Natural varianti41 – 411R → K in EVR2. 1 Publication
    VAR_005480
    Natural varianti41 – 411R → S in persistent fetal vasculature syndrome. 1 Publication
    VAR_064000
    Natural varianti42 – 421H → R in EVR2. 2 Publications
    VAR_005481
    Natural varianti43 – 431H → Q in ND. 1 Publication
    VAR_064001
    Natural varianti43 – 431H → R in ND. 1 Publication
    VAR_064002
    Natural varianti44 – 441Y → C in ND. 2 Publications
    VAR_005482
    Natural varianti45 – 451V → E in ND. 1 Publication
    VAR_064003
    Natural varianti45 – 451V → M in ND. 1 Publication
    VAR_064004
    Natural varianti54 – 541K → N in EVR2. 1 Publication
    VAR_064005
    Natural varianti55 – 551C → R in ND. 1 Publication
    VAR_064006
    Natural varianti58 – 581K → N in ND and EVR2. 2 Publications
    VAR_005483
    Natural varianti60 – 601V → E in ND; reduction of protein amount in the extracellular matrix. 1 Publication
    VAR_005484
    Natural varianti61 – 611L → F in ND. 2 Publications
    VAR_005485
    Natural varianti61 – 611L → I in EVR2. 1 Publication
    VAR_064007
    Natural varianti61 – 611L → P in ND. 1 Publication
    VAR_005486
    Natural varianti63 – 631A → D in ND. 1 Publication
    VAR_005487
    Natural varianti65 – 651C → W in ND. 1 Publication
    VAR_005490
    Natural varianti65 – 651C → Y in ND. 2 Publications
    VAR_005488
    Natural varianti67 – 671G → E in ND. 1 Publication
    VAR_064008
    Natural varianti67 – 671G → R in ND. 1 Publication
    VAR_064009
    Natural varianti69 – 691C → S in ND. 1 Publication
    VAR_005489
    Natural varianti74 – 741R → C in ND. 3 Publications
    VAR_005491
    Natural varianti75 – 751S → C in ND. 1 Publication
    VAR_005492
    Natural varianti75 – 751S → P in ND. 1 Publication
    VAR_016049
    Natural varianti89 – 891F → L in ND. 1 Publication
    VAR_064010
    Natural varianti90 – 901R → C in ND. 1 Publication
    VAR_064011
    Natural varianti90 – 901R → P in ND. 1 Publication
    VAR_005494
    Natural varianti92 – 921S → P in ND. 1 Publication
    VAR_064012
    Natural varianti94 – 963HCC → QCGL in ND.
    VAR_005495
    Natural varianti95 – 951C → F in ND. 1 Publication
    VAR_064013
    Natural varianti95 – 951C → R in ND. 1 Publication
    VAR_064014
    Natural varianti96 – 961C → W in ND. 1 Publication
    VAR_009275
    Natural varianti96 – 961C → Y in ND. 3 Publications
    VAR_005496
    Natural varianti97 – 971R → P in ND. 1 Publication
    VAR_064015
    Natural varianti98 – 981P → L in ND. 1 Publication
    VAR_064016
    Natural varianti101 – 1011S → F in ND. 1 Publication
    VAR_005497
    Natural varianti103 – 1031L → V in EVR2. 1 Publication
    VAR_064017
    Natural varianti104 – 1041K → N in ND. 1 Publication
    VAR_064018
    Natural varianti104 – 1041K → Q in ND. 1 Publication
    VAR_005498
    Natural varianti105 – 1051A → T in ND. 1 Publication
    VAR_016050
    Natural varianti108 – 1081L → P in retinopathy of prematurity. 1 Publication
    VAR_064019
    Natural varianti110 – 1101C → G in ND. 1 Publication
    VAR_016051
    Natural varianti110 – 1101C → R in ND. 1 Publication
    VAR_064020
    Natural varianti112 – 1121G → E in ND. 1 Publication
    VAR_064021
    Natural varianti115 – 1151R → L in EVR2. 1 Publication
    VAR_064022
    Natural varianti118 – 1181A → D in ND. 1 Publication
    VAR_064023
    Natural varianti120 – 1201Y → C in EVR2. 1 Publication
    VAR_005499
    Natural varianti121 – 1233Missing in ND.
    VAR_005503
    Natural varianti121 – 1211R → G in EVR2.
    VAR_005500
    Natural varianti121 – 1211R → L in EVR2. 1 Publication
    VAR_064024
    Natural varianti121 – 1211R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 3 Publications
    VAR_005501
    Natural varianti121 – 1211R → W in ND and EVR2. 2 Publications
    VAR_005502
    Natural varianti123 – 1231I → N in ND. 1 Publication
    VAR_005504
    Natural varianti124 – 1241L → F in EVR2. 1 Publication
    Corresponds to variant rs28933684 [ dbSNP | Ensembl ].
    VAR_005505
    Natural varianti126 – 1261C → S in ND. 1 Publication
    VAR_064025
    Natural varianti128 – 1281C → R in ND. 1 Publication
    VAR_064026

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X65724 mRNA. Translation: CAA46639.1.
    X65882 mRNA. Translation: CAA46713.1.
    AL034370 Genomic DNA. Translation: CAA22268.1.
    AK313409 mRNA. Translation: BAG36203.1.
    BC029901 mRNA. Translation: AAH29901.1.
    CCDSiCCDS14262.1.
    PIRiA57005.
    RefSeqiNP_000257.1. NM_000266.3.
    UniGeneiHs.522615.

    Genome annotation databases

    EnsembliENST00000378062; ENSP00000367301; ENSG00000124479.
    GeneIDi4693.
    KEGGihsa:4693.
    UCSCiuc004dga.3. human.

    Polymorphism databases

    DMDMi548342.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the NDP gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X65724 mRNA. Translation: CAA46639.1 .
    X65882 mRNA. Translation: CAA46713.1 .
    AL034370 Genomic DNA. Translation: CAA22268.1 .
    AK313409 mRNA. Translation: BAG36203.1 .
    BC029901 mRNA. Translation: AAH29901.1 .
    CCDSi CCDS14262.1.
    PIRi A57005.
    RefSeqi NP_000257.1. NM_000266.3.
    UniGenei Hs.522615.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4MY2 X-ray 2.40 A 30-133 [» ]
    ProteinModelPortali Q00604.
    SMRi Q00604. Positions 1-133.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110773. 6 interactions.
    IntActi Q00604. 4 interactions.
    STRINGi 9606.ENSP00000367301.

    Polymorphism databases

    DMDMi 548342.

    Proteomic databases

    PaxDbi Q00604.
    PRIDEi Q00604.

    Protocols and materials databases

    DNASUi 4693.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378062 ; ENSP00000367301 ; ENSG00000124479 .
    GeneIDi 4693.
    KEGGi hsa:4693.
    UCSCi uc004dga.3. human.

    Organism-specific databases

    CTDi 4693.
    GeneCardsi GC0XM043808.
    GeneReviewsi NDP.
    HGNCi HGNC:7678. NDP.
    HPAi HPA003095.
    MIMi 300658. gene.
    305390. phenotype.
    310600. phenotype.
    neXtProti NX_Q00604.
    Orphaneti 190. Coats disease.
    891. Familial exudative vitreoretinopathy.
    649. Norrie disease.
    91495. Persistent hyperplastic primary vitreous.
    90050. Retinopathy of prematurity.
    PharmGKBi PA31481.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG270934.
    HOGENOMi HOG000030892.
    HOVERGENi HBG004945.
    InParanoidi Q00604.
    OMAi KQPFRST.
    OrthoDBi EOG7W41DV.
    PhylomeDBi Q00604.

    Miscellaneous databases

    GeneWikii Norrin.
    GenomeRNAii 4693.
    NextBioi 18098.
    PROi Q00604.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q00604.
    CleanExi HS_NDP.
    Genevestigatori Q00604.

    Family and domain databases

    InterProi IPR006207. Cys_knot_C.
    IPR006208. Glyco_hormone_CN.
    IPR003064. Norrie_dis.
    [Graphical view ]
    Pfami PF00007. Cys_knot. 1 hit.
    [Graphical view ]
    PRINTSi PR01304. NORRIEDSEASE.
    SMARTi SM00041. CT. 1 hit.
    [Graphical view ]
    PROSITEi PS01185. CTCK_1. 1 hit.
    PS01225. CTCK_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Retina.
    2. "Isolation and characterization of a candidate gene for Norrie disease."
      Chen Z.-Y., Hendriks R.W., Jobling M.A., Powell J.F., Breakfield X.O., Sims K.B., Craig I.W.
      Nat. Genet. 1:204-208(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Fetal retina.
    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].
      Tissue: Uterus.
    4. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      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].
      Tissue: Brain.
    6. "Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix."
      Perez-Vilar J., Hill R.L.
      J. Biol. Chem. 272:33410-33415(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, OLIGOMERIZATION, MUTAGENESIS OF CYS-95, CHARACTERIZATION OF VARIANTS ND GLU-60 AND GLN-121.
    7. "Localization of the Norrie disease gene mRNA by in situ hybridization."
      Hartzer M.K., Cheng M., Liu X., Shastry B.S.
      Brain Res. Bull. 49:355-358(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    8. "Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure."
      Meitinger T., Meindl A., Bork P., Rost B., Sander C., Haasemann M., Murken J.
      Nat. Genet. 5:376-380(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: 3D-STRUCTURE MODELING.
    9. "Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families."
      Fuentes J.J., Volpini V., Fernandez-Toral F., Coto E., Estivill X.
      Hum. Mol. Genet. 2:1953-1955(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ND ASN-58 AND GLN-121.
    10. "A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease."
      Fuchs S., Xu S.Y., Caballero M., Salcedo M., Lo A.L., Wedemann H., Gal A.
      Hum. Mol. Genet. 3:655-656(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND ARG-13.
    11. "Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene."
      Joos K.M., Kimura A.E., Vandenburgh K., Bartley J.A., Stone E.M.
      Arch. Ophthalmol. 112:1574-1579(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND ARG-39.
    12. "Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins."
      Meindl A., Berger W., Meitinger T., van de Pol D., Achatz H., Dorner C., Haasemann M., Hellebrand H., Gal A., Cremers F.P.M., Ropers H.-H.
      Nat. Genet. 2:139-143(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ND CYS-44; GLU-60 AND TYR-96.
    13. Cited for: VARIANTS ND PHE-61; CYS-74; CYS-75; PRO-90 AND TYR-96.
    14. "Characterization of a mutation within the NDP gene in a family with a manifesting female carrier."
      Chen Z.-Y., Battinelli E.M., Woodruff G., Young I., Breakefield X.O., Craig I.W.
      Hum. Mol. Genet. 2:1727-1729(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND SER-69.
    15. "A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy."
      Chen Z.-Y., Battinelli E.M., Fielder A., Bundey S., Sims K., Breakefield X.O., Craig I.W.
      Nat. Genet. 5:180-183(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EVR2 PHE-124.
    16. "Mutations in the Norrie disease gene: a new mutation in a Japanese family."
      Isashiki Y., Ohba N., Yanagita T., Hokita N., Hotta Y., Hayakawa M., Fujiki K., Tanabe U.
      Br. J. Ophthalmol. 79:703-704(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND ARG-95.
    17. Cited for: VARIANTS ND PRO-61; ASP-63; TRP-65; ASN-123; 94-GLN--LEU-96 AND 121-ARG--ILE-123 DEL.
    18. "Missense mutations in the NDP gene in patients with a less severe course of Norrie disease."
      Meindl A., Lorenz B., Achatz H., Hellebrand H., Schmitz-Valckenberg P., Meitinger T.
      Hum. Mol. Genet. 4:489-490(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ND GLN-104; TRP-121 AND GLN-121.
    19. "A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif."
      Strasberg P., Liede H.A., Stein T., Warren I., Sutherland J., Ray P.N.
      Hum. Mol. Genet. 4:2179-2180(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND TYR-65.
    20. "Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype."
      Gal A., Veske A., Jojart G., Grammatico B., Huber B., Gu S., del Porto G., Senyi K.
      Acta Ophthalmol. Scand. Suppl. 219:13-16(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND SER-126.
    21. "X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein."
      Johnson K., Mintz-Hittner H.A., Conley Y.P., Ferrell R.E.
      Clin. Genet. 50:113-115(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EVR2 LEU-121.
    22. "Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome."
      Fuchs S., van de Pol D., Beudt U., Kellner U., Meire F., Berger W., Gal A.
      Hum. Mutat. 8:85-88(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ND CYS-74 AND ARG-110.
    23. "Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy."
      Torrente I., Mangino M., Gennarelli M., Novelli G., Giannotti A., Vadala P., Dallapiccola B.
      Am. J. Med. Genet. 72:242-244(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ND THR-105 AND GLY-110.
    24. "Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively."
      Walker J.L., Dixon J., Fenton C.R., Hungerford J., Lynch S.A., Stenhouses S.A.R., Christian A., Craig I.W.
      Hum. Mutat. 9:53-56(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND PHE-101.
    25. "Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy."
      Shastry B.S., Hejtmancik J.F., Trese M.T.
      Hum. Mutat. 9:396-401(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR2 LYS-41; ARG-42; ASN-58 AND CYS-120, VARIANT RETINOPATHY OF PREMATURITY PRO-108.
    26. "Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency."
      Rehm H.L., Gutierrez-Espeleta G.A., Garcia R., Jimenez G., Khetarpal U., Priest J.M., Sims K.B., Keats B.J.B., Morton C.C.
      Hum. Mutat. 9:402-408(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND PHE-61.
    27. "Norrie disease and exudative vitreoretinopathy in families with affected female carriers."
      Shastry B.S., Hiraoka M., Trese D.C., Trese M.T.
      Eur. J. Ophthalmol. 9:238-242(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ND TYR-96 AND ASP-118.
    28. "Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis."
      Black G.C.M., Perveen R., Bonshek R., Cahill M., Clayton-Smith J., Lloyd I.C., McLeod D.
      Hum. Mol. Genet. 8:2031-2035(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND TRP-96.
    29. "Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier."
      Yamada K., Limprasert P., Ratanasukon M., Tengtrisorn S., Yingchareonpukdee J., Vasiknanonte P., Kitaoka T., Ghadami M., Niikawa N., Kishino T.
      Am. J. Med. Genet. 100:52-55(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ND PRO-16 AND PRO-75.
    30. Cited for: VARIANTS ND CYS-38; GLN-43; CYS-44; MET-45; CYS-90 AND ARG-128.
    31. "A novel missense Norrie disease mutation associated with a severe ocular phenotype."
      Khan A.O., Shamsi F.A., Al-Saif A., Kambouris M.
      J. Pediatr. Ophthalmol. Strabismus 41:361-363(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND PHE-95.
    32. "Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR."
      Riveiro-Alvarez R., Trujillo-Tiebas M.J., Gimenez-Pardo A., Garcia-Hoyos M., Cantalapiedra D., Lorda-Sanchez I., Rodriguez de Alba M., Ramos C., Ayuso C.
      Mol. Vis. 11:705-712(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR2 CYS-38 AND GLN-121.
    33. "Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity."
      Dickinson J.L., Sale M.M., Passmore A., FitzGerald L.M., Wheatley C.M., Burdon K.P., Craig J.E., Tengtrisorn S., Carden S.M., Maclean H., Mackey D.A.
      Clin. Exp. Ophthalmol. 34:682-688(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EVR2 VAL-103, VARIANT ND ARG-43.
    34. "Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein."
      Allen R.C., Russell S.R., Streb L.M., Alsheikheh A., Stone E.M.
      Eye 20:234-241(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ND CYS-74 AND GLU-112.
    35. "Gene symbol: NDP. Disease: Norrie disease."
      Riveiro-Alvarez R., Trujillo M.J., Gimenez A., Cantalapiedra D., Vallespin E., Villaverde C., Ayuso C.
      Hum. Genet. 119:675-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND ASN-104.
    36. "A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms."
      Lev D., Weigl Y., Hasan M., Gak E., Davidovich M., Vinkler C., Leshinsky-Silver E., Lerman-Sagie T., Watemberg N.
      Am. J. Med. Genet. A 143:921-924(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ND GLU-45.
    37. "Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene."
      Wu W.-C., Drenser K., Trese M., Capone A. Jr., Dailey W.
      Arch. Ophthalmol. 125:225-230(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR2 ARG-42; ILE-61 AND TRP-121, VARIANTS ND ARG-39 AND TYR-65, VARIANT PERSISTENT FETAL VASCULATURE SYNDROME SER-41.
    38. "Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy."
      Kondo H., Qin M., Kusaka S., Tahira T., Hasebe H., Hayashi H., Uchio E., Hayashi K.
      Invest. Ophthalmol. Vis. Sci. 48:1276-1282(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EVR2 LYS-18; ASN-54 AND LEU-115, VARIANT ND PRO-97.
    39. "Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP."
      Nikopoulos K., Venselaar H., Collin R.W.J., Riveiro-Alvarez R., Boonstra F.N., Hooymans J.M., Mukhopadhyay A., Shears D., van Bers M., de Wijs I.J., van Essen A.J., Sijmons R.H., Tilanus M.A.D., van Nouhuys C.E., Ayuso C., Hoefsloot L.H., Cremers F.P.M.
      Hum. Mutat. 31:656-666(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ND ARG-55; ARG-67; GLU-67; LEU-89; PRO-92 AND LEU-98.

    Entry informationi

    Entry nameiNDP_HUMAN
    AccessioniPrimary (citable) accession number: Q00604
    Secondary accession number(s): B2R8K6, Q5JYH5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: June 1, 1994
    Last modified: October 1, 2014
    This is version 139 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: 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