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P48744 (NDP_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Norrin
Alternative name(s):
Norrie disease protein homolog
Gene names
Name:Ndp
Synonyms:Ndph
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length131 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6 Ref.7

Subunit structure

Oligomer; disulfide-linked By similarity. Interacts with FZD4. Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP). Ref.6 Ref.7

Subcellular location

Secreted By similarity.

Tissue specificity

Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina. Ref.5

Sequence similarities

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Chain25 – 131107Norrin
PRO_0000021796

Regions

Domain37 – 13094CTCK

Amino acid modifications

Disulfide bond37 ↔ 94 By similarity
Disulfide bond53 ↔ 108 By similarity
Disulfide bond63 ↔ 124 By similarity
Disulfide bond67 ↔ 126 By similarity
Disulfide bond? ↔ 129 By similarity

Sequences

Sequence LengthMass (Da)Tools
P48744 [UniParc].

Last modified February 1, 1996. Version 1.
Checksum: A761D508AED1D1A3

FASTA13114,700
        10         20         30         40         50         60 
MRNHVLAASI SMLSLLAIMG DTDSKTDSSF LMDSQRCMRH HYVDSISHPL YKCSSKMVLL 

        70         80         90        100        110        120 
ARCEGHCSQA SRSEPLVSFS TVLKQPFRSS CHCCRPQTSK LKALRLRCSG GMRLTATYRY 

       130 
ILSCHCEECS S 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X92397 mRNA. Translation: CAA63134.1.
X83794 Genomic DNA. Translation: CAA58725.1.
AL732321 Genomic DNA. Translation: CAM16089.1.
BC090623 mRNA. Translation: AAH90623.1.
CCDSCCDS30034.1.
PIRS55380.
RefSeqNP_035013.1. NM_010883.2.
UniGeneMm.5014.

3D structure databases

ProteinModelPortalP48744.
SMRP48744. Positions 1-131.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING10090.ENSMUSP00000046692.

Chemistry

ChEMBLCHEMBL2176820.

Proteomic databases

PRIDEP48744.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000040134; ENSMUSP00000046692; ENSMUSG00000040138.
GeneID17986.
KEGGmmu:17986.
UCSCuc009ssc.1. mouse.

Organism-specific databases

CTD4693.
MGIMGI:102570. Ndp.

Phylogenomic databases

eggNOGNOG270934.
GeneTreeENSGT00390000004304.
HOGENOMHOG000030892.
HOVERGENHBG004945.
InParanoidP48744.
OMAKQPFRST.
OrthoDBEOG7W41DV.
PhylomeDBP48744.

Gene expression databases

BgeeP48744.
GenevestigatorP48744.

Family and domain databases

InterProIPR006207. Cys_knot_C.
IPR004133. DAN.
IPR003064. Norrie_dis.
[Graphical view]
PfamPF03045. DAN. 1 hit.
[Graphical view]
PRINTSPR01304. NORRIEDSEASE.
SMARTSM00041. CT. 1 hit.
[Graphical view]
PROSITEPS01185. CTCK_1. 1 hit.
PS01225. CTCK_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio292959.
PROP48744.
SOURCESearch...

Entry information

Entry nameNDP_MOUSE
AccessionPrimary (citable) accession number: P48744
Secondary accession number(s): Q5CZY6
Entry history
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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot