| Gene Symbol |
NPHS1
|
| Entrez Gene |
4868
|
| Alt Symbol |
CNF, NPHN, nephrin
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
nephrosis 1, congenital, Finnish type (nephrin)
|
| Other Description |
nephrin|renal glomerulus-specific cell adhesion receptor
|
| Swissprots |
C3RX61 O60500 A6NDH2
|
| Accessions |
AAB80768 O60500 AF035835 AAC39687 AF126957 AAF36451 AF190637 AAG17141 AK310731 BC156195 AAI56196 BC156935 AAI56936 BX103667 EU642886 ACH99862 EU642887 NM_004646 NP_004637
|
| 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 (By similarity). {ECO:0000250}.
|
| Subcellular Location |
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}.
|
| Tissue Specificity |
Specifically expressed in podocytes of kidney glomeruli.
|
![Western Blot: Nephrin Overexpression Lysate (Adult Normal) [NBP2-10533] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for Nephrin.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/2186_Nephrin%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBP2-10533-img0001.jpg)