| Gene Information | |
|---|---|
| Gene Name | NPHP1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 732 |
| Protein Names | Nephrocystin-1 (Juvenile nephronophthisis 1 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1292 ( ENSG00000144061 ) |
| Evolutionary Stage | Opisthokonta |
| AlphaFoldDB | O15259 |
| Gene Card | NPHP1 |
| Uniprot ID | O15259 |
| Pfam | PF00018 |
| In ASD | no |
| Allosteric Prediction | no (-0.40574602) |
| Ortholog in Animals | Alpaca_ NPHP1 ( ortholog_one2one ) Dog_ NPHP1 ( ortholog_one2one ) GuineaPig_ NPHP1 ( ortholog_one2one ) Macaque_ NPHP1 ( ortholog_one2one ) Mouse_ Nphp1 ( ortholog_one2one ) Pig_ NPHP1 ( ortholog_one2one ) Rat_ Nphp1 ( ortholog_one2one ) Rabbit_ NPHP1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in nasal epithelial cells (at protein level) (PubMed:16308564). Expressed in the renal collecting duct (at protein level) (PubMed:18477472). {ECO:0000269|PubMed:16308564, ECO:0000269|PubMed:18477472}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.002101(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 1S1N (NMR - ) 6O1Q (NMR - ) |
| DBSNP | rs190983114 rs121907899 |
| Subcellular location [CC] | Cell junction {ECO:0000250|UniProtKB:Q9QY53}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q9QY53}. Cell projection, cilium {ECO:0000269|PubMed:16885411}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:16308564, ECO:0000269|PubMed:16885411}. Cell junction, tight junction. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme (PubMed:16308564, PubMed:16885411). Localized to the transition zone of respiratory cilia (PubMed:16885411). Localized to the transition zone of photoreceptor-connecting cilia and renal monocilia (By similarity). In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates at basolateral tight junctions (By similarity). {ECO:0000250|UniProtKB:Q9QY53, ECO:0000269|PubMed:16308564, ECO:0000269|PubMed:16885411}. |
| Mouse PG classification | NA |
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