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P48744

- NDP_MOUSE

UniProt

P48744 - NDP_MOUSE

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Protein

Norrin

Gene
Ndp, Ndph
Organism
Mus musculus (Mouse)
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.2 Publications

GO - Molecular functioni

  1. cytokine activity Source: BHF-UCL
  2. frizzled binding Source: BHF-UCL

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
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: Ensembl
  2. extracellular matrix Source: BHF-UCL
  3. extracellular space Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Secreted

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi? ↔ 129 By similarity
Disulfide bondi37 ↔ 94 By similarity
Disulfide bondi53 ↔ 108 By similarity
Disulfide bondi63 ↔ 124 By similarity
Disulfide bondi67 ↔ 126 By 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

Oligomer; disulfide-linked By similarity. Interacts with FZD4. Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP).2 Publications

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000046692.

Structurei

3D structure databases

ProteinModelPortaliP48744.
SMRiP48744. Positions 1-131.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini37 – 13094CTCKAdd
BLAST

Sequence similaritiesi

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

MRNHVLAASI SMLSLLAIMG DTDSKTDSSF LMDSQRCMRH HYVDSISHPL    50
YKCSSKMVLL ARCEGHCSQA SRSEPLVSFS TVLKQPFRSS CHCCRPQTSK 100
LKALRLRCSG GMRLTATYRY ILSCHCEECS S 131
Length:131
Mass (Da):14,700
Last modified:February 1, 1996 - v1
Checksum:iA761D508AED1D1A3
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
Links Updated
X92397 mRNA. Translation: CAA63134.1 .
X83794 Genomic DNA. Translation: CAA58725.1 .
AL732321 Genomic DNA. Translation: CAM16089.1 .
BC090623 mRNA. Translation: AAH90623.1 .
CCDSi CCDS30034.1.
PIRi S55380.
RefSeqi NP_035013.1. NM_010883.2.
UniGenei Mm.5014.

3D structure databases

ProteinModelPortali P48744.
SMRi P48744. Positions 1-131.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 10090.ENSMUSP00000046692.

Chemistry

ChEMBLi CHEMBL2176820.

Proteomic databases

PRIDEi P48744.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000040134 ; ENSMUSP00000046692 ; ENSMUSG00000040138 .
GeneIDi 17986.
KEGGi mmu:17986.
UCSCi uc009ssc.1. mouse.

Organism-specific databases

CTDi 4693.
MGIi MGI:102570. Ndp.

Phylogenomic databases

eggNOGi NOG270934.
GeneTreei ENSGT00390000004304.
HOGENOMi HOG000030892.
HOVERGENi HBG004945.
InParanoidi P48744.
OMAi KQPFRST.
OrthoDBi EOG7W41DV.
PhylomeDBi P48744.

Miscellaneous databases

NextBioi 292959.
PROi P48744.
SOURCEi Search...

Gene expression databases

Bgeei P48744.
Genevestigatori P48744.

Family and domain databases

InterProi IPR006207. Cys_knot_C.
IPR004133. DAN.
IPR003064. Norrie_dis.
[Graphical view ]
Pfami PF03045. DAN. 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. "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: July 9, 2014
This is version 100 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

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