Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
NPHS1 protein
|
| gptkbp:discoveredIn |
1998
|
| gptkbp:encodedBy |
NPHS1 gene
|
| gptkbp:expressedIn |
glomerular epithelial cells
|
| gptkbp:foundIn |
gptkb:kidney
podocyte |
| gptkbp:function |
forms slit diaphragm in glomerulus
maintains filtration barrier |
| https://www.w3.org/2000/01/rdf-schema#label |
nephrin
|
| gptkbp:interactsWith |
gptkb:CD2AP
podocin |
| gptkbp:locale |
gptkb:cell_membrane
|
| gptkbp:molecularWeight |
~180 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb:congenital_nephrotic_syndrome
autosomal recessive |
| gptkbp:OMIM |
602716
|
| gptkbp:role |
urine filtration
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:structure |
transmembrane protein
|
| gptkbp:UniProtID |
gptkb:O60500
|
| gptkbp:bfsParent |
gptkb:MAGI2
|
| gptkbp:bfsLayer |
6
|