Nphs1 NPHS1 adhesion molecule, nephrin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Nphs1provided by RGD
Official Full Name: NPHS1 adhesion molecule, nephrinprovided by RGD
Primary source: RGD:620460
See related: EnsemblRapid:ENSRNOG00000020873 AllianceGenome:RGD:620460
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables alpha-actinin binding activity; protein domain specific binding activity; and spectrin binding activity. Predicted to be involved in several processes, including myoblast fusion; skeletal muscle tissue development; and slit diaphragm assembly. Predicted to act upstream of or within several processes, including JNK cascade; cell adhesion; and positive regulation of actin filament polymerization. Located in basement membrane; plasma membrane; and slit diaphragm. Part of protein-containing complex. Biomarker of end stage renal disease; kidney failure; membranous glomerulonephritis; and 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, Dec 2024]
Expression: Restricted expression toward (RPKM 79.3) See more
Orthologs: human mouse all
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Genomic context

Location:: 1q21

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (94848261..94876522)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (85720812..85749079)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (88922346..88950560)

Chromosome 1 - NC_086019.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data show that metformin provides some protection against podocyte damage in diabetic rats, which may be related, in part, to its effect in reducing urinary nephrin (Nphs1) excretion as well as improving podocyte nephrin expression.
Title: Metformin ameliorates podocyte damage by restoring renal tissue nephrin expression in type 2 diabetic rats.
The effects of sildenafil citrate on urinary podocin and nephrin mRNA expression in an L-NAME model of pre-eclampsia.
Title: The effects of sildenafil citrate on urinary podocin and nephrin mRNA expression in an L-NAME model of pre-eclampsia.
Irbesartan treatment ameliorates proteinuria in puromycin aminonucleoside nephropathy by inhibiting the reduction of NEPH1 and nephrin in the kidney glomerulus.
Title: Angiotensin II type 1 receptor blockade ameliorates proteinuria in puromycin aminonucleoside nephropathy by inhibiting the reduction of NEPH1 and nephrin.
These findings suggest that candesartan can prevent cisplatin-induced testicular damage by regulating expression patterns of the nephrin-podocin complex in the testes.
Title: Candesartan Mediated Amelioration of Cisplatin-Induced Testicular Damage Is Associated with Alterations in Expression Patterns of Nephrin and Podocin.
Rat nephrin Tyr1127 and Tyr1152 are essential for SHP-1 induced nephrin dephosphorylation under high-glucose conditions.
Title: Increased SHP-1 protein expression by high glucose levels reduces nephrin phosphorylation in podocytes.
Resveratrol alleviated dyslipidemia and renal damage induced by high-fat diet also reduced TNF-alpha and MCP-1 levels, and reduced expressions of nephrin and podocin.
Title: Resveratrol increases nephrin and podocin expression and alleviates renal damage in rats fed a high-fat diet.
findings show that the filament-forming GTPase septin 7 is expressed in podocytes and associates with CD2-associated protein (CD2AP) and nephrin, both essential for glomerular ultrafiltration
Title: Septin 7 forms a complex with CD2AP and nephrin and regulates glucose transporter trafficking.
In the glomeruli of CNS patients carrying mutations in NPHS1, where SD formation is disrupted, the expression of SIRPalpha as well as Neph1 and nephrin was significantly decreased, indicating that SIRPalpha is closely associated with the nephrin complex
Title: SIRPα interacts with nephrin at the podocyte slit diaphragm.
Soy protein preserves basement membrane integrity through a synergistic effect on nephrin, matrix metalloproteinase and vascular endothelial growth factor
Title: Soy protein preserves basement membrane integrity through a synergistic effect on nephrin, matrix metalloproteinase and vascular endothelial growth factor.
Huaiqihuang Granule can up-regulate the expressions of nephrin and podocin in renal tissues of rats with adriamycin-induced nephrosis.
Title: [Effects of Chinese herbal medicine Huaiqihuang Granule on nephrin and podocin expressions in renal tissues of rats with adriamycin-induced nephrosis].

Submit: New GeneRIF Correction See all GeneRIFs (39)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC164293P1 (e-PCR)
- UniSTS:271482

PMC164293P2 (e-PCR)
- UniSTS:271483

D1Wox80 (e-PCR)
- UniSTS:518549

Gene Ontology Provided by RGD

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

Process	Evidence Code	Pubs
involved_in JNK cascade	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within JNK cascade	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within MAPK cascade	ISO Inferred from Sequence Orthology more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within gene expression	ISO Inferred from Sequence Orthology more info
involved_in glomerular basement membrane development	IEA Inferred from Electronic Annotation more info
involved_in glomerular filtration	IC Inferred by Curator more info	PubMed
involved_in myoblast fusion	IEA Inferred from Electronic Annotation more info
involved_in myoblast fusion	ISO Inferred from Sequence Orthology more info
involved_in podocyte development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament polymerization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of actin filament polymerization	ISO Inferred from Sequence Orthology more info
involved_in protein localization to synapse	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	ISO Inferred from Sequence Orthology more info
involved_in slit diaphragm assembly	IEA Inferred from Electronic Annotation more info
involved_in slit diaphragm assembly	ISO Inferred from Sequence Orthology more info
involved_in slit diaphragm assembly	ISS Inferred from Sequence or Structural Similarity more info

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

General protein information

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Preferred Names: nephrin

Names: NPHS1 nephrin; nephrosis 1 homolog, nephrin; nephrosis 1, congenital, Finnish type (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_022628.1 → NP_072150.1 nephrin precursor

See identical proteins and their annotated locations for NP_072150.1

Status: PROVISIONAL

Source sequence(s)

AF161715

UniProtKB/Swiss-Prot

Q9JIX2, Q9QXX7, Q9R044

Related

ENSRNOP00000104408.1, ENSRNOT00000145765.1

Conserved Domains (6) summary

smart00410
Location:859 → 949

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 ...

pfam07679
Location:460 → 555

I-set; Immunoglobulin I-set domain

pfam08205
Location:155 → 242

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

pfam13927
Location:256 → 335

Ig_3; Immunoglobulin domain

cl11960
Location:848 → 956

Ig; Immunoglobulin domain