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
- Involved in glomerular filtration; pronephric glomerulus development; and skeletal muscle fiber development. Predicted to localize to integral component of membrane. Used to study nephrotic syndrome and proteinuria. Human ortholog(s) of this gene implicated in nephrotic syndrome type 1. Is expressed in renal system. Orthologous to human NPHS1 (NPHS1 adhesion molecule, nephrin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 60 figures from 40 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 8 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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| nephrotic syndrome | la2Tg + MO1-nphs1 | standard conditions | Eneman et al., 2017 |
| proteinuria | WT + MO1-nphs1 | standard conditions | Kramer-Zucker et al., 2005 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin subtype |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR013162 | CD80-like, immunoglobulin C2-set |
| 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 | Length | CD80-like, immunoglobulin C2-set | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype | Immunoglobulin subtype 2 |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1Q8Y5
|
1242 | |||||||||
|
UniProtKB:F8W3X9
|
1115 | |||||||||
|
UniProtKB:Q1KMS5
|
1242 | |||||||||
|
UniProtKB:A0A2R8QLU2
|
1287 |
Interactions and Pathways
No data available
Plasmids
No data available