| Gene Symbol | Nphs1 |
|---|---|
| Entrez Gene | 64563 |
| Alt Symbol | - |
| Species | Rat |
| Gene Type | protein-coding |
| Description | nephrosis 1, congenital, Finnish type (nephrin) |
| Other Description | nephrin|nephrosis 1 homolog, nephrin|renal glomerulus-specific cell adhesion receptor |
| Swissprots | Q9QXX7 Q9R044 Q9JIX2 |
| Accessions | EDM07757 EDM07758 Q9R044 AF125521 AAF12734 AF161715 AAF14884 AF172255 AAF91086 XM_008759186 XP_008757408 XM_008759187 XP_008757409 NM_022628 NP_072150 |
| Function | Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion. {ECO:0000269|PubMed:10487848, ECO:0000269|PubMed:11880318}. |
| Subcellular Location | Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Located at podocyte slit diaphragm between podocyte foot processes. {ECO:0000269|PubMed:10792613}. |
| Tissue Specificity | Strongly expressed in the podocytes of kidney glomeruli (at protein level) and at lower levels in the spleen. {ECO:0000269|PubMed:10487848, ECO:0000269|PubMed:11012881}. |