Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



NPHS1 Gene

protein-coding   GIFtS: 63
GCID: GC19M036316

Nephrosis 1, Congenital, Finnish Type (Nephrin)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Nephrosis 1, Congenital, Finnish Type (Nephrin)1 2
NPHN2 3 5
Renal Glomerulus-Specific Cell Adhesion Receptor2 3
CNF2
nephrin2

External Ids:    HGNC: 79081   Entrez Gene: 48682   Ensembl: ENSG000001612707   OMIM: 6027165   UniProtKB: O605003   

Export aliases for NPHS1 gene to outside databases

Previous GC identifers: GC19M036956 GC19M036740 GC19M040968 GC19M041008 GC19M040983 GC19M040984 GC19M036290 GC19M032820


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 (nephrosis 1, congenital, Finnish type (nephrin)) is a protein-coding gene. Diseases associated with NPHS1 include proteinuria, and nephrosis. GO annotations related to this gene include myosin binding. An important paralog of this gene is KIRREL.

UniProtKB/Swiss-Prot: NPHN_HUMAN, O60500
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)

Gene Wiki entry for NPHS1 (Nephrin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NPHS1 gene promoter:
         E2F-4   E2F-1   E2F   p53   NRSF form 1   E2F-2   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPHS1 promoter sequence
   Search Chromatin IP Primers for NPHS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPHS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q12-q13.1

NPHS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPHS1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M036316:  view genomic region     (about GC identifiers)

Start:
36,316,274 bp from pter      End:
36,360,189 bp from pter
Size:
43,916 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: NPHN_HUMAN, O60500 (See protein sequence)
Recommended Name: Nephrin precursor  
Size: 1241 amino acids; 134742 Da
Subunit: 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. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1
(By similarity). Interacts with NPHS2
Developmental stage: In 23-week-old embryo found in epithelial podocytes of the periphery of mature and developing
glomeruli
Secondary accessions: A6NDH2 C3RX61
Alternative splicing: 2 isoforms:  O60500-1   O60500-2   

Explore the universe of human proteins at neXtProt for NPHS1: NX_O60500

Explore proteomics data for NPHS1 at MOPED

Post-translational modifications: 

  • Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1 (By
    similarity)1
  • Glycosylation2 at Asn40, Asn356, Asn401, Asn547, Asn553, Asn564, Asn577, Asn680, Asn708, Asn908
  • Modification sites at PhosphoSitePlus

  • See NPHS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004637.1  
    ENSEMBL proteins: 
     ENSP00000368190   ENSP00000343634  
    Reactome Protein details: O60500

    NPHS1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NPHS1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NPHS1
    GenScript Custom Purified and Recombinant Proteins Services for NPHS1
    Novus Biologicals NPHS1 Proteins
    Novus Biologicals NPHS1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    NPHS1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for NPHS1 (Nephrin)
    OriGene Antibodies for NPHS1
    OriGene Custom Antibody Services for NPHS1
    Novus Biologicals NPHS1 Antibodies
    Abcam antibodies for NPHS1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for NPHS1
    LSBio Antibodies in human, mouse, rat for NPHS1

    NPHS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NPHS1
    R&D Systems Luminex Assays for NPHS1 (Nephrin)
    GenScript Custom Assay Services for NPHS1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    C2SET: Immunoglobulin superfamily / C2-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing
    VSET: Immunoglobulin superfamily / V-set domain containing

    Selected InterPro protein domains (see all 8):
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR013162 CD80_C2-set
     IPR003599 Ig_sub
     IPR003961 Fibronectin_type3

    Graphical View of Domain Structure for InterPro Entry O60500

    ProtoNet protein and cluster: O60500

    3 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB013098 Immunoglobulin I-set
    IPB013162 CD80-like C2-set immunoglobulin


    UniProtKB/Swiss-Prot: NPHN_HUMAN, O60500
    Similarity: Belongs to the immunoglobulin superfamily
    Similarity: Contains 1 fibronectin type-III domain
    Similarity: Contains 8 Ig-like C2-type (immunoglobulin-like) domains


    NPHS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NPHN_HUMAN, O60500
    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)

         Genatlas biochemistry entry for NPHS1:
    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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16525419
    GO:0017022myosin binding IPI--
    GO:0019904protein domain specific binding IEA--
    GO:0030507spectrin binding IEA--
    GO:0051393alpha-actinin binding IEA--
         
    NPHS1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NPHS1:
     Increased G1 DNA content  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nphs1):
     homeostasis/metabolism  mortality/aging  nervous system  renal/urinary system 

    NPHS1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPHS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPHS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPHS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPHS1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat NPHS1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate NPHS1:
    hsa-miR-4307 hsa-miR-205* hsa-miR-3662 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidNPHS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NPHS1
    Predesigned siRNA for gene silencing in human, mouse, rat NPHS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NPHS1

    Clone
    Products:
         
    OriGene clones in human, mouse for NPHS1 (see all 6)
    OriGene ORF clones in mouse, rat for NPHS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPHS1 (NM_004646)
    Sino Biological Human cDNA Clone for NPHS1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPHS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPHS1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NPHS1
    Browse ESI BIO Cell Lines and PureStem Progenitors for NPHS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPHS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    NPHN_HUMAN, O60500: Cell membrane; Single-pass type I membrane protein (Potential). Note=Predominantly located
    at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    extracellular2
    mitochondrion2
    nucleus2
    endoplasmic reticulum1
    lysosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9660941
    GO:0016020membrane ----
    GO:0036057slit diaphragm ISS--
    GO:0042995cell projection IEA--

    NPHS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for NPHS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell junction organization
    Cell-Cell communication0.64
    2Nephrin/Neph1 signaling in the kidney podocyte
    Nephrin/Neph1 signaling in the kidney podocyte
    3Nephrin interactions
    Nephrin interactions

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for NPHS1
        Nephrin/Neph1 signaling in the kidney podocyte


    1 Reactome Pathway for NPHS1
        Nephrin interactions



    NPHS1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NPHS1
    Interactions:

        GeneGlobe Interaction Network for NPHS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NPHS1 (O605001, 3 ENSP000003681904) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 3, ENSP000002889864EBI-996920,EBI-389883 I2D: score=3 STRING: ENSP00000288986
    IQGAP1P469401, 3, ENSP000002681824EBI-996920,EBI-297509 I2D: score=2 STRING: ENSP00000268182
    FYNP062413, ENSP000003576564I2D: score=3 STRING: ENSP00000357656
    NPHS2Q9NP853, ENSP000003565874I2D: score=3 STRING: ENSP00000356587
    CASKO149363, ENSP000003674084I2D: score=2 STRING: ENSP00000367408
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade ----
    GO:0007155cell adhesion IEA--
    GO:0007254JNK cascade IEA--
    GO:0007519skeletal muscle tissue development IEA--
    GO:0007520myoblast fusion IEA--

    NPHS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NPHS1 (NPHN)

    Selected Novoseek inferred chemical compound relationships for NPHS1 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    puromycin aminonucleoside 78.9 8 10792613 (2), 16943307 (1), 15100730 (1), 12655073 (1) (see all 7)
    puromycin 55.5 6 11337370 (1), 19079321 (1), 18256598 (1), 19671594 (1)
    vegf 32.6 21 15339792 (5), 19042927 (3), 15042541 (2), 19528353 (2) (see all 13)
    steroid 27.1 2 15167446 (1), 16752799 (1)
    tyrosine 22.3 37 15579503 (6), 12846735 (3), 18256598 (3), 16934223 (2) (see all 14)
    adriamycin 21.9 4 12386277 (1), 19042927 (1), 19628668 (1), 20377774 (1)
    glucose 1.93 9 19833886 (3), 19533082 (2), 18220580 (1), 19403392 (1) (see all 6)
    creatinine 0.0586 3 18685143 (1), 19403392 (1), 19145783 (1)
    lipid 0 8 14570703 (4), 11549599 (2), 15327385 (1)
    calcium 0 4 11411021 (2), 15843471 (1)



    NPHS1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for NPHS1 gene: 
    NM_004646.3  

    Unigene Cluster for NPHS1:

    Nephrosis 1, congenital, Finnish type (nephrin)
    Hs.122186  [show with all ESTs]
    Unigene Representative Sequence: NM_004646
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378910(uc002oby.3) ENST00000353632(uc010eem.1) ENST00000585400
    ENST00000592132 ENST00000591817
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NPHS1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate NPHS1:
    hsa-miR-4307 hsa-miR-205* hsa-miR-3662 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidNPHS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NPHS1
    Predesigned siRNA for gene silencing in human, mouse, rat NPHS1
    Clone
    Products:
         
    OriGene clones in human, mouse for NPHS1 (see all 6)
    OriGene ORF clones in mouse, rat for NPHS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPHS1 (NM_004646)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPHS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPHS1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NPHS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPHS1
      QuantiTect SYBR Green Assays in human, mouse, rat NPHS1
      QuantiFast Probe-based Assays in human, mouse, rat NPHS1

    Additional mRNA sequence: 

    AF035835.1 AF126957.1 AF190637.1 AK310731.1 EU642886.1 EU642887.1 

    2 DOTS entries:

    DT.92415695  DT.200476 

    12 AceView cDNA sequences:

    AF126957 AI269901 BX103667 NM_004646 AF035835 AF190637 BE393865 BV176573 
    AI796032 AA911284 BI966820 BI963009 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for NPHS1    About this scheme

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


    ECgene alternative splicing isoforms for NPHS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    NPHS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGAACTTT
    NPHS1 Expression
    About this image


    NPHS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 20 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Somite (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             S-shaped Body Proximal Cells S-shaped Body Proximal Segment
             Proximal tubule-like cells
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hindlimb Dorsal Muscle
    NPHS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPHS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.122186

    UniProtKB/Swiss-Prot: NPHN_HUMAN, O60500
    Tissue specificity: Specifically expressed in podocytes of kidney glomeruli

        Custom PCR Arrays for NPHS1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NPHS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPHS1
    QuantiTect SYBR Green Assays in human, mouse, rat NPHS1
    QuantiFast Probe-based Assays in human, mouse, rat NPHS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPHS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for NPHS1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nphs11 , 5 nephrosis 1 homolog, nephrin (human)5
    nephrosis 1, nephrin1
    82.84(n)1
    82.7(a)1
      7 (18.36 cM)5
    546311  NM_019459.21  NP_062332.21 
     304583155 
    lizard
    (Anolis carolinensis)
    Reptilia NPHS16
    nephrosis 1, congenital, Finnish type (nephrin)
    45(a)
    1 ↔ 1
    GL343276.1(991859-1052155)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nphs11 nephrosis 1, congenital, Finnish type (nephrin) 55.08(n)
    47.92(a)
      100494620  XM_002940628.2  XP_002940674.2 
    zebrafish
    (Danio rerio)
    Actinopterygii nphs11 nephrosis 1, congenital, Finnish type (nephrin) 50.01(n)
    42.12(a)
      692352  NM_001040687.1  NP_001035777.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hbs3
    sns1
    regulation of myogenesis3
    sticks and stones1
    30(a)
    (best of 2)3
    46.15(n)1
    31.97(a)1
      51D83
    440971  NM_176106.11  NP_788286.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C26G2.13 Immunoglobulin domain \; Fibronectin
    type III more
    23(a)   X(14690214-14697799)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for NPHS1 gene
    KIRREL2  KIRREL32  KIRREL22  

    NPHS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for NPHS1 (see all 1037)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1918079131,2,,4
    Nephrotic syndrome 1 (NPHS1)4 --36494220(+) GCGGGC/G/TTTAGC 2 K N mis10--------
    VAR_0642034
    Nephrotic syndrome 1 (NPHS1)4--see VAR_0642032 G E mis40--------
    VAR_0130384
    Nephrotic syndrome 1 (NPHS1)4--see VAR_0130382 R C mis40--------
    VAR_0130474
    Nephrotic syndrome 1 (NPHS1)4--see VAR_0130472 S C mis40--------
    VAR_0642004
    Nephrotic syndrome 1 (NPHS1)4--see VAR_0642002 C R mis40--------
    VAR_0642244
    Nephrotic syndrome 1 (NPHS1)4--see VAR_0642242 L P mis40--------
    VAR_0642124
    Nephrotic syndrome 1 (NPHS1)4--see VAR_0642122 S R mis40--------
    VAR_0642154
    Nephrotic syndrome 1 (NPHS1)4--see VAR_0642152 R G mis40--------
    VAR_0130484
    Nephrotic syndrome 1 (NPHS1)4--see VAR_0130482 R C mis40--------
    VAR_0130394
    Nephrotic syndrome 1 (NPHS1)4--see VAR_0130392 P S mis40--------

    HapMap Linkage Disequilibrium report for NPHS1 (36316274 - 36360189 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NPHS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2481755CNV Insertion19546169
    esv1600817CNV Insertion17803354
    dgv51n68CNV Loss17160897
    nsv911638CNV Loss21882294

    Human Gene Mutation Database (HGMD): NPHS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPHS1
    DNA2.0 Custom Variant and Variant Library Synthesis for NPHS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 602716   
    OMIM disorders: 256300  
    UniProtKB/Swiss-Prot: NPHN_HUMAN, O60500
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for NPHS1 (see all 49):    
    About MalaCards
    proteinuria    nephrosis    multilocular cystic renal cell carcinoma    nephrotic syndrome, type 1
    congenital nephrotic syndrome finnish type    steroid-resistant nephrotic syndrome    necrotizing fasciitis    dyskinetic cerebral palsy
    nephrotic syndrome, type 2    familial nephrotic syndrome    nephrotic syndrome, type 6    athetosis
    nephrotic syndrome    diabetic nephropathy    membranous glomerulonephritis    fasciitis
    denys-drash syndrome    focal segmental glomerulosclerosis    cerebral palsy    glomerulonephritis

    6 diseases from the University of Copenhagen DISEASES database for NPHS1:
    Nephrotic syndrome     Proteinuria     Glomerulonephritis     Kidney failure
    Nephroblastoma     Diabetes mellitus

    NPHS1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for NPHS1 gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nphs1 98.7 322 15338398 (10), 15954901 (8), 18503012 (7), 16316524 (7) (see all 95)
    nephrotic syndrome 92 167 17371932 (5), 18614772 (4), 10344367 (4), 11337370 (3) (see all 84)
    proteinuria 89.1 128 15100730 (5), 19077682 (4), 12224046 (3), 19042927 (3) (see all 75)
    glomerulosclerosis, focal segmental 86.6 15 19812541 (3), 11854170 (2), 11337370 (1), 12776268 (1) (see all 10)
    glomerulosclerosis 80.8 6 15509792 (2), 19940106 (2), 15613060 (1), 18220694 (1)
    mesangial sclerosis, diffuse 78 1 18462046 (1)
    nephrosis 76.9 12 18256598 (3), 12660332 (1), 18379524 (1), 19079321 (1) (see all 7)
    diabetic nephropathies 75.8 16 12436341 (4), 12224046 (2), 15149332 (2), 19746264 (1) (see all 10)
    nephrotic syndrome minimal change 75.7 5 15086927 (1), 12480962 (1), 16889564 (1), 18985619 (1) (see all 5)
    nephropathy membranous 74.7 14 14633129 (2), 19882202 (2), 11337370 (1), 19048584 (1) (see all 10)

    Genatlas disease: NPHS1
    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

    Genetic Association Database (GAD): NPHS1
    Human Genome Epidemiology (HuGE) Navigator: NPHS1 (21 documents)

    Export disorders for NPHS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for NPHS1 gene, integrated from 10 sources (see all 341):
    (articles sorted by number of sources associating them with NPHS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Positionally cloned gene for a novel glomerular protein -- nephrin -- is mutated in congenital nephrotic syndrome. (PubMed id 9660941)1, 2, 3, 9 Kestilae M.... Tryggvason K. (Mol. Cell 1998)
    2. Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. (PubMed id 9915943)1, 2, 3 Lenkkeri U.... Tryggvason K. (Am. J. Hum. Genet. 1999)
    3. Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. (PubMed id 18614772)1, 2, 9 Philippe A....Antignac C. (J. Am. Soc. Nephrol. 2008)
    4. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. (PubMed id 18503012)1, 2, 9 Heeringa S.F.... Hildebrandt F. (Nephrol. Dial. Transplant. 2008)
    5. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). (PubMed id 17371932)1, 4, 9 Hinkes B.G....Hildebrandt F. (Pediatrics 2007)
    6. Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). (PubMed id 15086927)1, 4, 9 Lahdenkari A.T....Jalanko H. (Kidney Int. 2004)
    7. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. (PubMed id 10393930)1, 2, 9 Ruotsalainen V.... Tryggvason K. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    8. Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney. (PubMed id 10550324)1, 2, 9 Holthoefer H.... Kerjaschki D. (Am. J. Pathol. 1999)
    9. Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. (PubMed id 19406966)1, 4, 9 Caridi G....Ghiggeri G.M. (Clin J Am Soc Nephrol 2009)
    10. [Association of NPHS1 gene polymorphism with IgA nephropathy]. (PubMed id 19671286)1, 4, 9 Yu L....Zhang H. (Zhonghua Yi Xue Za Zhi 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 4868 HGNC: 7908 AceView: NPHS1 Ensembl:ENSG00000161270 euGenes: HUgn4868
    ECgene: NPHS1 H-InvDB: NPHS1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for NPHS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NPHS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for NPHS1 gene:
    Search GeneIP for patents involving NPHS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for NPHS1 (Nephrin)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Luminex Assays for NPHS1 (Nephrin)  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for NPHS1   OriGene RNAi products in human, mouse, rat for NPHS1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for NPHS1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for NPHS1  
     OriGene qSTAR qPCR primer pairs in human, mouse for NPHS1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for NPHS1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NPHS1   OriGene Custom Protein Services for NPHS1  

     
     
     Block miRNA regulation of human, mouse, rat NPHS1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NPHS1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPHS1 Predesigned siRNA for gene silencing in human, mouse, rat NPHS1
     QuantiFast Probe-based Assays in human, mouse, rat NPHS1 QuantiTect SYBR Green Assays in human, mouse, rat NPHS1
     Custom PCR Arrays for NPHS1 Search Chromatin IP Primers for NPHS1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPHS1  GeneGlobe Interaction Network for NPHS1
     Regulatory tfbs in NPHS1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for NPHS1 GenScript cDNA clones with any tag delivered in your preferred vector for NPHS1
     GenScript Custom Assay Services for NPHS1 GenScript Custom overexpressing Cell Line Services for NPHS1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for NPHS1 (NPHN)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for NPHS1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     NPHS1 antibodies
     NPHS1 proteins
     NPHS1 lysates
     Antibodies for NPHS1
     See all of Abcam's Antibodies, Kits and Proteins for NPHS1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for NPHS1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPHS1
     SwitchGear 3'UTR luciferase reporter plasmids for NPHS1
     SwitchGear Promoter luciferase reporter plasmids for NPHS1
     ThermoFisher Antibody for NPHS1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPHS1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPHS1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPHS1
     LSBio Antibodies in human, mouse, rat for NPHS1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NPHS1 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4