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

Nphs1 - nephrosis 1, nephrin Gene

种属: Mus musculus

同用名: nephrin; NephrinB

基因 ID: 54631 | 基因类型: protein coding

关于 Nphs1

功能概要

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 基因产物(1)

mRNA Protein Name
NM_019459.2 NP_062332.2 nephrin precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
11733379 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within JNK cascade IDA
IDA: 通过直接分析推断
11562357 MGI
acts upstream of or within MAPK cascade IDA
IDA: 通过直接分析推断
11562357 MGI
acts upstream of or within cell adhesion IGI
IGI: 通过遗传相互作用推断
21306299 MGI
acts upstream of or within gene expression IMP
IMP: 通过突变表型推断
16501493 MGI
involved in myoblast fusion IMP
IMP: 通过突变表型推断
19470472 MGI
acts upstream of or within positive regulation of actin filament polymerization IGI
IGI: 通过遗传相互作用推断
17923684 MGI
involved in skeletal muscle tissue development IMP
IMP: 通过突变表型推断
19470472 MGI
involved in slit diaphragm assembly IMP
IMP: 通过突变表型推断
11136707 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cell periphery IDA
IDA: 通过直接分析推断
16501493 MGI
located in cell projection IDA
IDA: 通过直接分析推断
20534871 MGI
located in focal adhesion IDA
IDA: 通过直接分析推断
29162887 MGI
located in plasma membrane IDA
IDA: 通过直接分析推断
15924139 MGI
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

nephrin

nephrin 1

nephrosis 1 homolog, nephrin

renal glomerulus-specific cell adhesion receptor

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Nphs1 NCBI NCBI:4868