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Q00604

- NDP_HUMAN

UniProt

Q00604 - NDP_HUMAN

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Protein

Norrin

Gene

NDP

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

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 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
Complete GO annotation...

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
Complete GO annotation...

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. 1 Publication
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.
GeneTreeiENSGT00390000004304.
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

        10         20         30         40         50
MRKHVLAASF SMLSLLVIMG DTDSKTDSSF IMDSDPRRCM RHHYVDSISH
60 70 80 90 100
PLYKCSSKMV LLARCEGHCS QASRSEPLVS FSTVLKQPFR SSCHCCRPQT
110 120 130
SKLKALRLRC SGGMRLTATY RYILSCHCEE CNS
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. 1 Publication
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.
GeneTreei ENSGT00390000004304.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 140 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

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