Nphs1 nephrosis 1, nephrin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nphs1provided by MGI
Official Full Name: nephrosis 1, nephrinprovided by MGI
Primary source: MGI:MGI:1859637
See related: Ensembl:ENSMUSG00000006649 AllianceGenome:MGI:1859637
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: nephrin; NephrinB
Summary: Predicted to enable cell adhesion molecule binding activity; cytoskeletal protein binding activity; and protein domain specific binding activity. Involved in myoblast fusion; regulation of excretion; and skeletal muscle tissue development. Acts upstream of or within JNK cascade; cell adhesion; and positive regulation of actin filament polymerization. Located in cell projection; focal adhesion; and plasma membrane. Is expressed in central nervous system and metanephros. Used to study nephrotic syndrome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 1. Orthologous to human NPHS1 (NPHS1 adhesion molecule, nephrin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in kidney adult (RPKM 9.9), small intestine adult (RPKM 0.8) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B1; 7 18.36 cM

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (30157259..30188048)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (30458207..30488623)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phosphorylation of slit diaphragm proteins NEPHRIN and NEPH1 upon binding of HGF promotes podocyte repair.
Title: Phosphorylation of slit diaphragm proteins NEPHRIN and NEPH1 upon binding of HGF promotes podocyte repair.
Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.
Title: Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.
IL-7 stimulation inhibited nephrin activation and caused actin cytoskeleton disorganization, indicating that IL-7 stimulation induces podocyte injury.
Title: Interleukin-7 stimulation inhibits nephrin activation and induces podocyte injury.
WNT/beta-catenin signaling is crucial for myoblast fusion through the regulation of the Nphs1 gene.
Title: WNT/β-catenin signaling plays a crucial role in myoblast fusion through regulation of nephrin expression during development.
Nephrin is necessary for podocyte recovery following injury in an adult mature glomerulus
Title: Nephrin is necessary for podocyte recovery following injury in an adult mature glomerulus.
Here, we found the dynamic changes of Notch1 were coincided with autophagy: they both increased during kidney development and podocyte differentiation...to better understand the relationship between Notch signalling and autophagy in podocyte differentiation, rapamycin was added to enhance autophagy levels in DAPT-treated cells, and as a result, nephrin was recovered and DAPT-induced injury was ameliorated
Title: Autophagy is involved in mouse kidney development and podocyte differentiation regulated by Notch signalling.
WHSC1L1-L acts as a histone methyltransferase in podocytes and regulates nephrin gene expression, which may in turn contribute to the integrity of the slit diaphragm of the glomerular filtration barrier.
Title: Wolf-Hirschhorn syndrome candidate 1-like 1 epigenetically regulates nephrin gene expression.
Data (including data from studies using transgenic mice, an murine experimental model of diabetes, and mouse/human cell lines) suggest prostaglandin I2 receptor (Ptgir) is involved in insulin secretion in pancreatic beta-cells and in permselectivity in glomerular podocytes; the mechanism appears to involve regulation of post-translational phosphorylation of nephrin.
Title: Prostaglandin I2 Receptor Agonism Preserves β-Cell Function and Attenuates Albuminuria Through Nephrin-Dependent Mechanisms.
the interaction between nephrin and MAGI-1 regulates Rap1 activation in podocytes to maintain long term slit diaphragm structure
Title: MAGI-1 Interacts with Nephrin to Maintain Slit Diaphragm Structure through Enhanced Rap1 Activation in Podocytes.
interaction of full-length suPAR with alphavbeta3 integrin expressed on podocytes results in down-modulation of nephrin that may affect kidney functionality in different human pathologies characterized by increased concentration of suPAR.
Title: Full-length soluble urokinase plasminogen activator receptor down-modulates nephrin expression in podocytes.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (7) 1 citation
Gene trapped (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC343810P3 (e-PCR)
- UniSTS:273194

Nphs1 (e-PCR), detects polymorphism
- UniSTS:527455

PMC164293P1 (e-PCR)
- UniSTS:271482

PMC164293P2 (e-PCR)
- UniSTS:271483

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-actinin binding	ISO Inferred from Sequence Orthology more info
enables cell adhesion molecule binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables spectrin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within JNK cascade	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell adhesion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in myoblast fusion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of actin filament polymerization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein localization to synapse	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in slit diaphragm assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	ISO Inferred from Sequence Orthology more info
is_active_in cell periphery	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in slit diaphragm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: nephrin

Names: nephrin 1; nephrosis 1 homolog, nephrin; renal glomerulus-specific cell adhesion receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_019459.2 → NP_062332.2 nephrin precursor

See identical proteins and their annotated locations for NP_062332.2

Status: VALIDATED

Source sequence(s)

AC167970, AF172256, AF191090, AK141081

Consensus CDS

CCDS39884.1

UniProtKB/Swiss-Prot

D2KXA7, Q811S5, Q925S5, Q9ESC6, Q9ET59, Q9JIX1, Q9QZS7

Related

ENSMUSP00000006825.9, ENSMUST00000006825.9

Conserved Domains (6) summary

smart00410
Location:859 → 949

IG_like; Immunoglobulin like

pfam07679
Location:460 → 555

I-set; Immunoglobulin I-set domain

pfam00041
Location:956 → 1039

fn3; Fibronectin type III domain

pfam08205
Location:155 → 242

C2-set_2; CD80-like C2-set immunoglobulin domain

pfam13927
Location:753 → 834

Ig_3; Immunoglobulin domain

cl11960
Location:848 → 956

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

30157259..30188048

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036153260.1 → XP_036009153.1 nephrin isoform X2

Conserved Domains (6) summary

smart00410
Location:38 → 113

IG_like; Immunoglobulin like

cd00063
Location:941 → 1035

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam08205
Location:141 → 228

C2-set_2; CD80-like C2-set immunoglobulin domain

pfam13927
Location:740 → 820

Ig_3; Immunoglobulin domain

cd00096
Location:839 → 844

Ig; putative Ig strand A [structural motif]

cl11960
Location:834 → 942

Ig; Immunoglobulin domain
XM_011250647.3 → XP_011248949.1 nephrin isoform X2

See identical proteins and their annotated locations for XP_011248949.1

UniProtKB/Swiss-Prot

Q9QZS7

Related

ENSMUSP00000116500.3, ENSMUST00000126297.9

Conserved Domains (6) summary

smart00410
Location:38 → 113

IG_like; Immunoglobulin like

cd00063
Location:941 → 1035

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam08205
Location:141 → 228

C2-set_2; CD80-like C2-set immunoglobulin domain

pfam13927
Location:740 → 820

Ig_3; Immunoglobulin domain

cd00096
Location:839 → 844

Ig; putative Ig strand A [structural motif]

cl11960
Location:834 → 942

Ig; Immunoglobulin domain
XM_036153259.1 → XP_036009152.1 nephrin isoform X1

Conserved Domains (6) summary

smart00410
Location:52 → 127

IG_like; Immunoglobulin like

cd00063
Location:955 → 1049

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam08205
Location:155 → 242

C2-set_2; CD80-like C2-set immunoglobulin domain

pfam13927
Location:754 → 834

Ig_3; Immunoglobulin domain

cd00096
Location:853 → 858

Ig; putative Ig strand A [structural motif]

cl11960
Location:848 → 956

Ig; Immunoglobulin domain