| Gene Information | |
|---|---|
| Gene Name | NPHP3 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1330 |
| Protein Names | Nephrocystin-3 |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 950 ( ENSG00000113971 ) |
| Evolutionary Stage | Cellular_organisms |
| AlphaFoldDB | Q7Z494 |
| Gene Card | NPHP3 |
| Uniprot ID | Q7Z494 |
| Pfam | PF13176 |
| In ASD | no |
| Allosteric Prediction | no (-1.220716964) |
| Ortholog in Animals | Alpaca_ NPHP3 ( ortholog_one2one ) Dog_ NPHP3 ( ortholog_one2one ) GuineaPig_ NPHP3 ( ortholog_one2one ) Macaque_ NPHP3 ( ortholog_one2one ) Mouse_ Nphp3 ( ortholog_one2one ) Pig_ NPHP3 ( ortholog_one2one ) Rat_ Nphp3 ( ortholog_one2one ) Rabbit_ NPHP3 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | KLC1, KLC2, APPBP2, KLC3, KLC4 |
| Tissue | NA |
| Tissue Specificity | Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung. {ECO:0000269|PubMed:12872122}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5L7K (X-ray 2.10A ) |
| DBSNP | rs119456960 rs142021049 rs755094682 rs119456963 rs1057521090 rs202048210 rs143451766 rs35485382 rs75316802 |
| Subcellular location [CC] | Cell projection, cilium {ECO:0000269|PubMed:20462968, ECO:0000269|PubMed:22085962}. Note=Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus. |
| Mouse PG classification | NA |
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