Nphs1 - nephrosis 1, nephrin Gene
Also Known as nephrin; NephrinB
Species: Mus musculus
Summary
Predicted to enable cell adhesion molecule binding activity; cytoskeletal protein binding activity; and protein domain specific binding activity. Involved in myoblast fusion; regulation of excretion; and skeletal muscle tissue development. Acts upstream of or within JNK cascade; cell adhesion; and positive regulation of actin filament polymerization. Located in cell projection; focal adhesion; and plasma membrane. Is expressed in central nervous system and metanephros. Used to study nephrotic syndrome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 1. Orthologous to human NPHS1 (NPHS1 adhesion molecule, nephrin). [provided by Alliance of Genome Resources, Apr 2022]
Nphs1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_019459.2 | NP_062332.2 | nephrin precursor |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11733379 | MGI |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| acts upstream of or within JNK cascade |
IDA
IDA: Inferred from direct assay
|
11562357 | MGI |
| acts upstream of or within MAPK cascade |
IDA
IDA: Inferred from direct assay
|
11562357 | MGI |
| acts upstream of or within cell adhesion |
IGI
IGI: Inferred from genetic interaction
|
21306299 | MGI |
| acts upstream of or within gene expression |
IMP
IMP: Inferred from mutant phenotype
|
16501493 | MGI |
| involved in myoblast fusion |
IMP
IMP: Inferred from mutant phenotype
|
19470472 | MGI |
| acts upstream of or within positive regulation of actin filament polymerization |
IGI
IGI: Inferred from genetic interaction
|
17923684 | MGI |
| involved in skeletal muscle tissue development |
IMP
IMP: Inferred from mutant phenotype
|
19470472 | MGI |
| involved in slit diaphragm assembly |
IMP
IMP: Inferred from mutant phenotype
|
11136707 | MGI |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| is active in cell periphery |
IDA
IDA: Inferred from direct assay
|
16501493 | MGI |
| located in cell projection |
IDA
IDA: Inferred from direct assay
|
20534871 | MGI |
| located in focal adhesion |
IDA
IDA: Inferred from direct assay
|
29162887 | MGI |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15924139 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
nephrin |
|
|