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 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

Expression

All Expression Data

67 figures from 44 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 14 figures from 10 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 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	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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	nphs1-201 (1) Ensembl	Ensembl	3,775 nt	Select Tool ZFIN BLAST
mRNA	nphs1-202 (1) Ensembl	Ensembl	3,381 nt	Select Tool ZFIN BLAST
mRNA	nphs1-203 (1) Ensembl	Ensembl	7,238 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Host Organism	Assay	Source	Citations
AB1-nphs1	polyclonal	nphs1	Rabbit	IHC		10
Ab3-nphs1	polyclonal	nphs1	Rabbit	IHC		1
Ab2-nphs1	polyclonal	nphs1	Guinea pig	IHC	OriGene	2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations