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 have cell adhesion molecule binding activity. Involved in animal organ development; glial cell development; and glomerular filtration. Predicted to localize to cell-cell junction and integral component of plasma membrane. Is expressed in renal system. Used to study nephrotic syndrome 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
Expression
All Expression Data
57 figures from 38 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
10 figures from 8 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nphs1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
nephrotic syndrome type 1 Alliance Nephrotic syndrome, type 1 256300
Associated With nphs1 Via Experimental Models
Gene Ontology
Protein Domains
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:A0A2R8QLU2 1287
UniProtKB:F8W3X9 1115
UniProtKB:Q1KMS5 1242
UniProtKB:F1Q8Y5 1242
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
AB1-nphs1 polyclonal Rabbit
  • IHC
10
Ab2-nphs1 polyclonal Guinea pig
  • IHC
OriGene
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations