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Aliases for NPHS1 Gene

Aliases for NPHS1 Gene

  • NPHS1 Nephrin 2 3
  • Nephrosis 1, Congenital, Finnish Type (Nephrin) 2 3 5
  • Renal Glomerulus-Specific Cell Adhesion Receptor 3 4
  • NPHN 3 4
  • Nephrin 3
  • CNF 3

External Ids for NPHS1 Gene

Previous GeneCards Identifiers for NPHS1 Gene

  • GC19M036956
  • GC19M036740
  • GC19M040968
  • GC19M041008
  • GC19M040983
  • GC19M040984
  • GC19M036290
  • GC19M036316
  • GC19M032820

Summaries for NPHS1 Gene

Entrez Gene Summary for NPHS1 Gene

  • This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]

GeneCards Summary for NPHS1 Gene

NPHS1 (NPHS1 Nephrin) is a Protein Coding gene. Diseases associated with NPHS1 include Nephrotic Syndrome, Type 1 and Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Diffuse Mesangial Proliferation. Among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte and Cell junction organization. GO annotations related to this gene include protein domain specific binding and myosin binding. An important paralog of this gene is KIRREL3.

UniProtKB/Swiss-Prot for NPHS1 Gene

  • Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).

Gene Wiki entry for NPHS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPHS1 Gene

Genomics for NPHS1 Gene

Regulatory Elements for NPHS1 Gene

Enhancers for NPHS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NPHS1 on UCSC Golden Path with GeneCards custom track

Promoters for NPHS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NPHS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NPHS1 Gene

Chromosome:
19
Start:
35,825,372 bp from pter
End:
35,869,287 bp from pter
Size:
43,916 bases
Orientation:
Minus strand

Genomic View for NPHS1 Gene

Genes around NPHS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPHS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPHS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPHS1 Gene

Proteins for NPHS1 Gene

  • Protein details for NPHS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60500-NPHN_HUMAN
    Recommended name:
    Nephrin
    Protein Accession:
    O60500
    Secondary Accessions:
    • A6NDH2
    • C3RX61

    Protein attributes for NPHS1 Gene

    Size:
    1241 amino acids
    Molecular mass:
    134742 Da
    Quaternary structure:
    • Interacts with CD2AP (via C-terminal domain). Interacts with MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with IGSF5/JAM4. Interacts with DDN; the interaction is direct. Self-associates (via the Ig-like domains). Also interacts (via the Ig-like domains) with KIRREL/NEPH1 and KIRREL2; the interaction with KIRREL is dependent on KIRREL glycosylation. Interacts with KIRREL3. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 (By similarity). Interacts with NPHS2 (PubMed:11562357).

    Three dimensional structures from OCA and Proteopedia for NPHS1 Gene

    Alternative splice isoforms for NPHS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPHS1 Gene

Proteomics data for NPHS1 Gene at MOPED

Post-translational modifications for NPHS1 Gene

  • Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1.
  • Glycosylation at Asn 40, Asn 356, Asn 401, Asn 547, Asn 553, Asn 564, Asn 577, Asn 680, Asn 708, and Asn 908
  • Modification sites at PhosphoSitePlus

Other Protein References for NPHS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NPHS1 Gene

Domains & Families for NPHS1 Gene

Suggested Antigen Peptide Sequences for NPHS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60500

UniProtKB/Swiss-Prot:

NPHN_HUMAN :
  • Contains 1 fibronectin type-III domain.
  • Belongs to the immunoglobulin superfamily.
Domain:
  • Contains 1 fibronectin type-III domain.
  • Contains 8 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with NPHS1: view

Function for NPHS1 Gene

Molecular function for NPHS1 Gene

GENATLAS Biochemistry:
nephrin,transmembrane protein of the immunoglobulin family of cell-adhesion molecules,expressed in renal glomeruli with CD2 associated protein CD2AP specifically located at the slit membrane extending between foot processes of the podocytes,mediating filtration through the podocyte filter which sits at the interface of the capillary and the nephron
UniProtKB/Swiss-Prot Function:
Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).
genes like me logo Genes that share phenotypes with NPHS1: view

Human Phenotype Ontology for NPHS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NPHS1 Gene

MGI Knock Outs for NPHS1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for NPHS1 Gene

Localization for NPHS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPHS1 Gene

Cell membrane; Single-pass type I membrane protein. Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. {ECO:0000269 PubMed:10393930, ECO:0000269 PubMed:10550324}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NPHS1 Gene COMPARTMENTS Subcellular localization image for NPHS1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NPHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with NPHS1: view

Pathways & Interactions for NPHS1 Gene

genes like me logo Genes that share pathways with NPHS1: view

Pathways by source for NPHS1 Gene

1 BioSystems pathway for NPHS1 Gene
2 Reactome pathways for NPHS1 Gene

SIGNOR curated interactions for NPHS1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NPHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007254 JNK cascade IEA --
GO:0007519 skeletal muscle tissue development IEA --
GO:0007588 excretion TAS 9660941
GO:0030838 positive regulation of actin filament polymerization IEA --
GO:0044062 regulation of excretion IEA --
genes like me logo Genes that share ontologies with NPHS1: view

Drugs & Compounds for NPHS1 Gene

(8) Drugs for NPHS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) Additional Compounds for NPHS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NPHS1: view

Transcripts for NPHS1 Gene

mRNA/cDNA for NPHS1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NPHS1 Gene

Nephrosis 1, congenital, Finnish type (nephrin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NPHS1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5
SP1:
SP2: -

Relevant External Links for NPHS1 Gene

GeneLoc Exon Structure for
NPHS1
ECgene alternative splicing isoforms for
NPHS1

Expression for NPHS1 Gene

mRNA expression in normal human tissues for NPHS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NPHS1 Gene

This gene is overexpressed in Kidney - Cortex (x28.1) and Pancreas (x19.7).

Protein differential expression in normal tissues from HIPED for NPHS1 Gene

This gene is overexpressed in Plasma (43.9), Urine (11.0), and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NPHS1 Gene



SOURCE GeneReport for Unigene cluster for NPHS1 Gene Hs.122186

mRNA Expression by UniProt/SwissProt for NPHS1 Gene

O60500-NPHN_HUMAN
Tissue specificity: Specifically expressed in podocytes of kidney glomeruli.
genes like me logo Genes that share expression patterns with NPHS1: view

Protein tissue co-expression partners for NPHS1 Gene

Primer Products

Orthologs for NPHS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NPHS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NPHS1 35
  • 86.36 (n)
  • 87.91 (a)
NPHS1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NPHS1 35
  • 85.36 (n)
  • 87.11 (a)
NPHS1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nphs1 35
  • 82.84 (n)
  • 82.7 (a)
Nphs1 16
Nphs1 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NPHS1 35
  • 99.06 (n)
  • 99.11 (a)
NPHS1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nphs1 35
  • 82.99 (n)
  • 82.66 (a)
oppossum
(Monodelphis domestica)
Mammalia NPHS1 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPHS1 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPHS1 36
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nphs1 35
  • 55.08 (n)
  • 47.92 (a)
zebrafish
(Danio rerio)
Actinopterygii nphs1 35
  • 50.01 (n)
  • 42.12 (a)
nphs1 36
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta hbs 37
  • 30 (a)
sns 37
  • 29 (a)
sns 35
  • 46.15 (n)
  • 31.97 (a)
hbs 36
  • 27 (a)
OneToMany
sns 36
  • 23 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010742 35
  • 44.77 (n)
  • 33.37 (a)
worm
(Caenorhabditis elegans)
Secernentea C26G2.1 37
  • 23 (a)
syg-2 36
  • 21 (a)
OneToOne
Species with no ortholog for NPHS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NPHS1 Gene

ENSEMBL:
Gene Tree for NPHS1 (if available)
TreeFam:
Gene Tree for NPHS1 (if available)

Paralogs for NPHS1 Gene

Paralogs for NPHS1 Gene

genes like me logo Genes that share paralogs with NPHS1: view

Variants for NPHS1 Gene

Sequence variations from dbSNP and Humsavar for NPHS1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_013029 Nephrotic syndrome 1 (NPHS1)
VAR_013030 -
VAR_013031 Nephrotic syndrome 1 (NPHS1)
VAR_013033 Nephrotic syndrome 1 (NPHS1)
VAR_013035 Nephrotic syndrome 1 (NPHS1)

Structural Variations from Database of Genomic Variants (DGV) for NPHS1 Gene

Variant ID Type Subtype PubMed ID
nsv911638 CNV Loss 21882294
esv2481755 CNV Insertion 19546169
esv1600817 CNV Insertion 17803354
dgv51n68 CNV Loss 17160897

Variation tolerance for NPHS1 Gene

Residual Variation Intolerance Score: 62.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.61; 91.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NPHS1 Gene

Human Gene Mutation Database (HGMD)
NPHS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPHS1 Gene

Disorders for NPHS1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for NPHS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NPHS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NPHN_HUMAN
  • Nephrotic syndrome 1 (NPHS1) [MIM:256300]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. {ECO:0000269 PubMed:10652016, ECO:0000269 PubMed:11317351, ECO:0000269 PubMed:17290294, ECO:0000269 PubMed:18503012, ECO:0000269 PubMed:18614772, ECO:0000269 PubMed:20172850, ECO:0000269 PubMed:22009864, ECO:0000269 PubMed:22565185, ECO:0000269 PubMed:26560236, ECO:0000269 PubMed:9660941, ECO:0000269 PubMed:9915943}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for NPHS1 Gene

congenital nephrotic syndrome of the Finnish type,autosomal recessive,with mitochondrial dysfunction in the kidneys,characterized by massive proteinuria already present at birth without extrarenal symptoms and anatomically an absence of podocyte foot processes and of slit diaphragm

Relevant External Links for NPHS1

Genetic Association Database (GAD)
NPHS1
Human Genome Epidemiology (HuGE) Navigator
NPHS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPHS1
genes like me logo Genes that share disorders with NPHS1: view

Publications for NPHS1 Gene

  1. Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. (PMID: 9915943) Lenkkeri U. … Tryggvason K. (Am. J. Hum. Genet. 1999) 2 3 4 67
  2. Nephrin is expressed on the surface of insulin vesicles and facilitates glucose-stimulated insulin release. (PMID: 19833886) Fornoni A. … Ricordi C. (Diabetes 2010) 3 23
  3. Association between genetic polymorphisms of the NPHS1 gene and membranous glomerulonephritis in the Taiwanese population. (PMID: 20138859) Lo W.Y. … Tsai F.J. (Clin. Chim. Acta 2010) 3 23
  4. Podocytic PKC-alpha is regulated in murine and human diabetes and mediates nephrin endocytosis. (PMID: 20419132) Tossidou I. … Schiffer M. (PLoS ONE 2010) 3 23
  5. Nephrin and endothelial injury. (PMID: 19077682) Hauser P.V. … Camussi G. (Curr. Opin. Nephrol. Hypertens. 2009) 3 23

Products for NPHS1 Gene

Sources for NPHS1 Gene

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