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Protein

Norrin

Gene

NDP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • cytokine activity Source: GO_Central
  • frizzled binding Source: BHF-UCL
  • growth factor activity Source: ProtInc
  • protein homodimerization activity Source: BHF-UCL

GO - Biological processi

  • canonical Wnt signaling pathway Source: BHF-UCL
  • cell-cell signaling Source: ProtInc
  • cell proliferation Source: ProtInc
  • extracellular matrix-cell signaling Source: Ensembl
  • nervous system development Source: ProtInc
  • placenta development Source: Ensembl
  • positive regulation of sequence-specific DNA binding transcription factor activity Source: Ensembl
  • positive regulation of transcription, DNA-templated Source: BHF-UCL
  • retina vasculature morphogenesis in camera-type eye Source: Ensembl
  • sensory perception of sound Source: ProtInc
  • signal transduction Source: ProtInc
  • vacuole organization Source: ProtInc
  • visual perception Source: ProtInc
  • Wnt signaling pathway Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Vision, Wnt signaling pathway

Enzyme and pathway databases

SIGNORiQ00604.

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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:7678. NDP.

Subcellular locationi

  • Secreted 1 Publication

GO - Cellular componenti

  • cell surface Source: BHF-UCL
  • extracellular matrix Source: BHF-UCL
  • extracellular space Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Norrie disease (ND)27 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRecessive 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.
See also OMIM:310600
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131L → R in ND. 1 Publication
Corresponds to variant rs104894879 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894870 [ dbSNP | Ensembl ].
VAR_005482
Natural varianti45 – 451V → E in ND. 1 Publication
Corresponds to variant rs137852221 [ dbSNP | Ensembl ].
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. 2 Publications
Corresponds to variant rs104894869 [ dbSNP | Ensembl ].
VAR_005484
Natural varianti61 – 611L → F in ND. 2 Publications
Corresponds to variant rs104894880 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894872 [ dbSNP | Ensembl ].
VAR_005489
Natural varianti74 – 741R → C in ND. 3 Publications
Corresponds to variant rs727504031 [ dbSNP | Ensembl ].
VAR_005491
Natural varianti75 – 751S → C in ND. 1 Publication
Corresponds to variant rs104894868 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894867 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894877 [ dbSNP | Ensembl ].
VAR_009275
Natural varianti96 – 961C → Y in ND. 3 Publications
Corresponds to variant rs104894871 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894883 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894875 [ dbSNP | Ensembl ].
VAR_016050
Natural varianti110 – 1101C → G in ND. 1 Publication
Corresponds to variant rs104894876 [ dbSNP | Ensembl ].
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. 4 Publications
VAR_005501
Natural varianti121 – 1211R → W in ND and EVR2. 2 Publications
Corresponds to variant rs104894878 [ dbSNP | Ensembl ].
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)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:305390
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
Corresponds to variant rs104894874 [ dbSNP | Ensembl ].
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
Corresponds to variant rs137852220 [ dbSNP | Ensembl ].
VAR_064024
Natural varianti121 – 1211R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 4 Publications
VAR_005501
Natural varianti121 – 1211R → W in ND and EVR2. 2 Publications
Corresponds to variant rs104894878 [ dbSNP | Ensembl ].
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

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

Polymorphism and mutation databases

BioMutaiNDP.
DMDMi548342.

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 bondi39 ↔ 961 Publication
Disulfide bondi55 ↔ 1101 Publication
Disulfide bondi65 ↔ 1261 Publication
Disulfide bondi69 ↔ 1281 Publication
Disulfide bondi93 – 93Interchain (with C-95)1 Publication
Disulfide bondi95 – 95Interchain (with C-93)1 Publication
Disulfide bondi131 – 131Interchain1 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ00604.
PeptideAtlasiQ00604.
PRIDEiQ00604.

PTM databases

iPTMnetiQ00604.
PhosphoSiteiQ00604.

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

BgeeiENSG00000124479.
CleanExiHS_NDP.
GenevisibleiQ00604. HS.

Organism-specific databases

HPAiHPA003095.

Interactioni

Subunit structurei

Homodimer; disulfide-linked. Component of a complex, at least composed of TSPAN12, FZD4, LRP5/6 and norrin (NDP). Binds FZD4 with high affinity. Interacts with LRP6 (via Beta-propellers 1 and 2).1 Publication

Binary interactionsi

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

GO - Molecular functioni

  • cytokine activity Source: GO_Central
  • frizzled binding Source: BHF-UCL
  • growth factor activity Source: ProtInc
  • protein homodimerization activity Source: BHF-UCL

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 strandi37 – 4812Combined sources
Beta strandi51 – 533Combined sources
Beta strandi58 – 6710Combined sources
Beta strandi73 – 775Combined sources
Beta strandi80 – 834Combined sources
Beta strandi88 – 925Combined sources
Beta strandi94 – 11017Combined sources
Turni111 – 1133Combined sources
Beta strandi115 – 13319Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4MY2X-ray2.40A30-133[»]
5BPUX-ray2.40A/B/C/D/E/F25-133[»]
5BQ8X-ray2.00A/B/C/D25-133[»]
5BQBX-ray2.30A/B/C/D25-133[»]
5BQCX-ray3.00A25-133[»]
5BQEX-ray2.30A/B25-133[»]
5CL1X-ray3.80A/B31-133[»]
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

eggNOGiENOG410IR8E. Eukaryota.
ENOG4111RWI. LUCA.
GeneTreeiENSGT00390000004304.
HOGENOMiHOG000030892.
HOVERGENiHBG004945.
InParanoidiQ00604.
OMAiKQPFRST.
OrthoDBiEOG091G0TKF.
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
Corresponds to variant rs104894879 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894874 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894870 [ dbSNP | Ensembl ].
VAR_005482
Natural varianti45 – 451V → E in ND. 1 Publication
Corresponds to variant rs137852221 [ dbSNP | Ensembl ].
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. 2 Publications
Corresponds to variant rs104894869 [ dbSNP | Ensembl ].
VAR_005484
Natural varianti61 – 611L → F in ND. 2 Publications
Corresponds to variant rs104894880 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894872 [ dbSNP | Ensembl ].
VAR_005489
Natural varianti74 – 741R → C in ND. 3 Publications
Corresponds to variant rs727504031 [ dbSNP | Ensembl ].
VAR_005491
Natural varianti75 – 751S → C in ND. 1 Publication
Corresponds to variant rs104894868 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894867 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894877 [ dbSNP | Ensembl ].
VAR_009275
Natural varianti96 – 961C → Y in ND. 3 Publications
Corresponds to variant rs104894871 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894883 [ dbSNP | Ensembl ].
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
Corresponds to variant rs104894875 [ dbSNP | Ensembl ].
VAR_016050
Natural varianti108 – 1081L → P in retinopathy of prematurity. 1 Publication
VAR_064019
Natural varianti110 – 1101C → G in ND. 1 Publication
Corresponds to variant rs104894876 [ dbSNP | Ensembl ].
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
Corresponds to variant rs137852220 [ dbSNP | Ensembl ].
VAR_064024
Natural varianti121 – 1211R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 4 Publications
VAR_005501
Natural varianti121 – 1211R → W in ND and EVR2. 2 Publications
Corresponds to variant rs104894878 [ dbSNP | Ensembl ].
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:
EMBLi
GenBanki
DDBJi
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.5. human.

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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4MY2X-ray2.40A30-133[»]
5BPUX-ray2.40A/B/C/D/E/F25-133[»]
5BQ8X-ray2.00A/B/C/D25-133[»]
5BQBX-ray2.30A/B/C/D25-133[»]
5BQCX-ray3.00A25-133[»]
5BQEX-ray2.30A/B25-133[»]
5CL1X-ray3.80A/B31-133[»]
ProteinModelPortaliQ00604.
SMRiQ00604. Positions 1-133.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ00604.
PhosphoSiteiQ00604.

Polymorphism and mutation databases

BioMutaiNDP.
DMDMi548342.

Proteomic databases

PaxDbiQ00604.
PeptideAtlasiQ00604.
PRIDEiQ00604.

Protocols and materials databases

DNASUi4693.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378062; ENSP00000367301; ENSG00000124479.
GeneIDi4693.
KEGGihsa:4693.
UCSCiuc004dga.5. human.

Organism-specific databases

CTDi4693.
GeneCardsiNDP.
GeneReviewsiNDP.
HGNCiHGNC:7678. NDP.
HPAiHPA003095.
MalaCardsiNDP.
MIMi300658. gene.
305390. phenotype.
310600. phenotype.
neXtProtiNX_Q00604.
Orphaneti190. Coats disease.
891. Familial exudative vitreoretinopathy.
649. Norrie disease.
91495. Persistent hyperplastic primary vitreous.
90050. Retinopathy of prematurity.
PharmGKBiPA31481.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR8E. Eukaryota.
ENOG4111RWI. LUCA.
GeneTreeiENSGT00390000004304.
HOGENOMiHOG000030892.
HOVERGENiHBG004945.
InParanoidiQ00604.
OMAiKQPFRST.
OrthoDBiEOG091G0TKF.
PhylomeDBiQ00604.

Enzyme and pathway databases

SIGNORiQ00604.

Miscellaneous databases

ChiTaRSiNDP. human.
GeneWikiiNorrin.
GenomeRNAii4693.
PROiQ00604.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124479.
CleanExiHS_NDP.
GenevisibleiQ00604. HS.

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]
ProtoNetiSearch...

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: September 7, 2016
This is version 154 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.