Tbio NPHS1 Nephrin

Protein Summary

Description

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). This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]

Uniprot Accession IDs

• O60500
• A6NDH2
• C3RX61

Gene Name

• NPHS1

Ensembl ID

• ENST00000353632
• ENSP00000343634
• ENSG00000161270
• ENST00000378910
• ENSP00000368190

Symbol

• NPHN
• CNF
• NPHN
• nephrin

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.97
biological term	0.78
gene perturbation	0.76
disease	0.65
hub protein	0.63

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1119.86   (req: < 5)

Gene RIFs: 129   (req: <= 3)

Antibodies: 708   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1119.86   (req: >= 5)

Gene RIFs: 129   (req: > 3)

Antibodies: 708   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0