1. Gene
  2. Nphs1 - nephrosis 1, nephrin Gene

Nphs1 - nephrosis 1, nephrin Gene

Mus musculus

Also known as nephrin; NephrinB

Gene ID: 54631 | Gene type: protein coding

About Nphs1

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
11733379 MGI
Biological Process GO Annotation Evidence Reference 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 Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

nephrin

nephrin 1

nephrosis 1 homolog, nephrin

renal glomerulus-specific cell adhesion receptor

Orthologs Information

Species Symbol Source ID
Homo sapiens Nphs1 NCBI NCBI:4868