| Primary information |
|---|
| ID | 12702 |
| Uniprot ID | Q00604 |
| Description | Norrin (Norrie disease protein) (X-linked exudative vitreoretinopathy 2 protein) |
| Organism | Homo sapiens |
| Txonomy | Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata (jawed vertebrates); Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea (apes); Hominidae (great apes); Homininae; Homo; Homo sapiens (Human) |
| Subcellular Location | Secreted |
| Developmental Stage | NA |
| Similarity | NA |
| Tissue Specificity | Expressed in the outer nuclear; inner nuclear and ganglion cell layers of the retina; and in fetal and adult brain. |
| Post Translational Modification | NA |
| 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. |
| Length | 133 |
| Molecular Weight | 15 |
| Name | Norrin |
| Sequence | TDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECNS |
| Sequence map | 27-13 |
| PDB ID | 4MY2; 5BPU; 5BQ8; 5BQB; 5BQC; 5BQE; 5CL1; |
| Drugpedia | NA |
| Receptor | Q9ULV1; O75197 |
| Domain | NA |
| Pharmaceutical Use | NA
|