| Gene Information | |
|---|---|
| Gene Name | NPHN |
| Organism | Homo sapiens (Human) |
| Gene Length | 1241 |
| Protein Names | Nephrin (Renal glomerulus-specific cell adhesion receptor) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O60500 |
| Gene Card | NPHS1 |
| Uniprot ID | O60500 |
| Pfam | PF08205; PF00041; PF07679 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Specifically expressed in podocytes of kidney glomeruli. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001990(Rat);0.02(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4ZRT (X-ray 1.74A ) |
| DBSNP | rs386833897 rs386833929 rs386833934 rs386833933 rs386833934 rs3814995 rs386833945 rs386833946 rs386833949 rs145125791 rs139598219 rs35238405 rs373835033 rs386833960 rs34982899 rs267606917 rs386833961 rs113825926 rs753476209 rs386833861 rs386833862 rs386833863 rs386833864 rs386833865 rs386833867 rs386833866 rs386833868 rs386833871 rs34320609 rs386833874 rs33950747 rs142008044 rs386833875 rs386833879 rs28939695 rs386833880 rs386833881 rs386833884 rs386833885 rs386833886 rs1468337078 rs386833888 rs386833889 rs386833890 rs730880174 rs386833892 rs367976914 rs386833894 rs764058957 rs386833895 rs191807913 rs386833900 rs386833902 rs926025297 rs386833905 rs1131692245 rs386833907 rs386833908 rs386833909 rs114203578 rs386833911 rs386833912 rs387906357 rs267606918 rs386833915 rs386833916 rs386833917 rs143649022 rs763162233 rs138656762 rs34736717 rs367986918 rs749003854 rs4806213 rs143092783 |
| Subcellular location [CC] | Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. {ECO:0000269|PubMed:10393930, ECO:0000269|PubMed:10550324}. |
| Mouse PG classification | NA |
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