Detailed description page of Hmrbase2

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12592 details
Primary information
ID12592
Uniprot IDP48744
DescriptionNorrin (Norrie disease protein homolog)
OrganismMus musculus
TxonomyEukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata (jawed vertebrates); Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires (Rodents and rabbits); Rodentia; Myomorpha (mice and others); Muroidea; Muridae; Murinae; Mus; Mus; Mus musculus (Mouse)
Subcellular LocationSecreted
Developmental StageNA
SimilarityNA
Tissue SpecificityExpressed in the outer nuclear; inner nuclear and ganglion cell layers of the retina.
Post Translational ModificationNA
FunctionActivates 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.
Length131
Molecular Weight14
NameNorrin
SequenceTDSSFLMDSQRCMRHHYVDSISHPLYKCSSKMVLLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECSS
Sequence map27-11
PDB IDNA
DrugpediaNA
ReceptorNA
DomainNA
Pharmaceutical UseNA