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

Expression

All Expression Data

62 figures from 42 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 13 figures from 9 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

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
nephrotic syndrome type 1	nphs1^{mss102/mss102} (AB)	standard conditions	Lee et al., 2022
nephrotic syndrome type 1	nphs1^{mss103/mss103} (AB)	standard conditions	Lee et al., 2022

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	IPR013151	Immunoglobulin
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