| 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}.
|