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Protein

Norrin

Gene

Ndp

Organism
Mus musculus (Mouse)
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.2 Publications

GO - Molecular functioni

  1. cytokine activity Source: BHF-UCL
  2. frizzled binding Source: BHF-UCL
  3. protein homodimerization activity Source: MGI

GO - Biological processi

  1. canonical Wnt signaling pathway Source: BHF-UCL
  2. extracellular matrix-cell signaling Source: BHF-UCL
  3. placenta development Source: MGI
  4. positive regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  5. positive regulation of transcription, DNA-templated Source: BHF-UCL
  6. retina vasculature morphogenesis in camera-type eye Source: MGI
  7. Wnt signaling pathway Source: MGI
Complete GO annotation...

Keywords - Biological processi

Wnt signaling pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Norrin
Alternative name(s):
Norrie disease protein homolog
Gene namesi
Name:Ndp
Synonyms:Ndph
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome X

Organism-specific databases

MGIiMGI:102570. Ndp.

Subcellular locationi

Secreted By similarity

GO - Cellular componenti

  1. cell surface Source: MGI
  2. extracellular matrix Source: BHF-UCL
  3. extracellular space Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Secreted

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Sequence AnalysisAdd
BLAST
Chaini25 – 131107NorrinPRO_0000021796Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi37 ↔ 94By similarity
Disulfide bondi53 ↔ 108By similarity
Disulfide bondi63 ↔ 124By similarity
Disulfide bondi67 ↔ 126By similarity
Disulfide bondi91 – 91Interchain (with C-93)By similarity
Disulfide bondi93 – 93Interchain (with C-91)By similarity
Disulfide bondi129 – 129InterchainBy similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PRIDEiP48744.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP48744.
GenevestigatoriP48744.

Interactioni

Subunit structurei

Homodimer; disulfide-linked (By similarity). 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).By similarity2 Publications

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000046692.

Structurei

3D structure databases

ProteinModelPortaliP48744.
SMRiP48744. Positions 1-131.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini37 – 13094CTCKPROSITE-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.
InParanoidiP48744.
OMAiKQPFRST.
OrthoDBiEOG7W41DV.
PhylomeDBiP48744.

Family and domain databases

InterProiIPR006207. Cys_knot_C.
IPR004133. DAN.
IPR003064. Norrie_dis.
[Graphical view]
PfamiPF03045. DAN. 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.

P48744-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MRNHVLAASI SMLSLLAIMG DTDSKTDSSF LMDSQRCMRH HYVDSISHPL
60 70 80 90 100
YKCSSKMVLL ARCEGHCSQA SRSEPLVSFS TVLKQPFRSS CHCCRPQTSK
110 120 130
LKALRLRCSG GMRLTATYRY ILSCHCEECS S
Length:131
Mass (Da):14,700
Last modified:February 1, 1996 - v1
Checksum:iA761D508AED1D1A3
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X92397 mRNA. Translation: CAA63134.1.
X83794 Genomic DNA. Translation: CAA58725.1.
AL732321 Genomic DNA. Translation: CAM16089.1.
BC090623 mRNA. Translation: AAH90623.1.
CCDSiCCDS30034.1.
PIRiS55380.
RefSeqiNP_035013.1. NM_010883.2.
UniGeneiMm.5014.

Genome annotation databases

EnsembliENSMUST00000040134; ENSMUSP00000046692; ENSMUSG00000040138.
GeneIDi17986.
KEGGimmu:17986.
UCSCiuc009ssc.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X92397 mRNA. Translation: CAA63134.1.
X83794 Genomic DNA. Translation: CAA58725.1.
AL732321 Genomic DNA. Translation: CAM16089.1.
BC090623 mRNA. Translation: AAH90623.1.
CCDSiCCDS30034.1.
PIRiS55380.
RefSeqiNP_035013.1. NM_010883.2.
UniGeneiMm.5014.

3D structure databases

ProteinModelPortaliP48744.
SMRiP48744. Positions 1-131.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000046692.

Chemistry

ChEMBLiCHEMBL2176820.

Proteomic databases

PRIDEiP48744.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000040134; ENSMUSP00000046692; ENSMUSG00000040138.
GeneIDi17986.
KEGGimmu:17986.
UCSCiuc009ssc.1. mouse.

Organism-specific databases

CTDi4693.
MGIiMGI:102570. Ndp.

Phylogenomic databases

eggNOGiNOG270934.
GeneTreeiENSGT00390000004304.
HOGENOMiHOG000030892.
HOVERGENiHBG004945.
InParanoidiP48744.
OMAiKQPFRST.
OrthoDBiEOG7W41DV.
PhylomeDBiP48744.

Miscellaneous databases

NextBioi292959.
PROiP48744.
SOURCEiSearch...

Gene expression databases

BgeeiP48744.
GenevestigatoriP48744.

Family and domain databases

InterProiIPR006207. Cys_knot_C.
IPR004133. DAN.
IPR003064. Norrie_dis.
[Graphical view]
PfamiPF03045. DAN. 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...

Publicationsi

« Hide 'large scale' publications
  1. "An animal model for Norrie disease (ND): gene targeting of the mouse ND gene."
    Berger W., van de Pol D., Baechner D., Oerlemans F., Winkens H., Hameister H., Wieringa B., Hendriks W., Ropers H.-H.
    Hum. Mol. Genet. 5:51-59(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Strain: C57BL/6.
    Tissue: Brain.
  2. "Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp)."
    Battinelli E.M., Boyd Y., Craig I.W., Breakefield X.O., Chen Z.Y.
    Mamm. Genome 7:93-97(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Strain: L129.
  3. Wood J.
    Submitted (JUL-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: C57BL/6.
    Tissue: Brain.
  5. "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.
  6. "Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair."
    Xu Q., Wang Y., Dabdoub A., Smallwood P.M., Williams J., Woods C., Kelley M.W., Jiang L., Tasman W., Zhang K., Nathans J.
    Cell 116:883-895(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH TO FZD4.
  7. "TSPAN12 regulates retinal vascular development by promoting Norrin-but not Wnt-induced FZD4/beta-catenin signaling."
    Junge H.J., Yang S., Burton J.B., Paes K., Shu X., French D.M., Costa M., Rice D.S., Ye W.
    Cell 139:299-311(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN A COMPLEX WITH FZD4 AND TSPAN12.

Entry informationi

Entry nameiNDP_MOUSE
AccessioniPrimary (citable) accession number: P48744
Secondary accession number(s): Q5CZY6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: February 4, 2015
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.