Gene
nphs1
- ID
- ZDB-GENE-051102-1
- Name
- NPHS1 adhesion molecule, nephrin
- Symbol
- nphs1 Nomenclature History
- Previous Names
-
- nphs1l
- nephrin (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable cell adhesion molecule binding activity. Acts upstream of or within several processes, including glomerular filtration; pronephric glomerulus development; and skeletal muscle fiber development. Predicted to be located in membrane. Predicted to be active in cell-cell junction and plasma membrane. Is expressed in renal system. Used to study nephrotic syndrome; nephrotic syndrome type 1; and proteinuria. Human ortholog(s) of this gene implicated in nephrotic syndrome type 1. Orthologous to human NPHS1 (NPHS1 adhesion molecule, nephrin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 68 figures from 45 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nephrotic syndrome type 1 | Alliance | Nephrotic syndrome, type 1 | 256300 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR013151 | Immunoglobulin-like beta-sandwich domain |
| Domain | IPR013162 | CD80-like, immunoglobulin C2-set |
| Family | IPR051275 | Cellular adhesion and signaling domain-containing protein |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | CD80-like, immunoglobulin C2-set | Cellular adhesion and signaling domain-containing protein | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like beta-sandwich domain | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QPY5 | InterPro | 1242 | |||||||||||
| UniProtKB:Q1KMS5 | InterPro | 1242 | |||||||||||
| UniProtKB:A0AB32T456 | InterPro | 1241 |
Interactions and Pathways
No data available
Plasmids
No data available