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ZIRC
ZFIN ID: ZDB-GENE-051102-1
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Gene Name: NPHS1 adhesion molecule, nephrin
Gene Symbol: nphs1
Sequence Ontology ID : SO:0001217

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Previous Names: nphs1l, nephrin (1)

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(Including Attributions)
Location: Chr: 15 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Involved in glomerular filtration; pronephric glomerulus development; and skeletal muscle fiber development. Predicted to localize to the integral component of membrane. Used to study proteinuria.  ...
GENE EXPRESSION
All Expression Data: 55 figures from 36 publications
Wild-type Stages, Structures: Pharyngula:Prim-5 (24.0h-30.0h) to Adult (90d-730d, breeding adult)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
cu18 Small Deletion Unknown Unknown CRISPR
la012758Tg Transgenic Insertion Unknown Unknown DNA
sa6392 Point Mutation Unknown Premature Stop ENU
sa22701 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa22702 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa28513 Point Mutation Unknown Premature Stop ENU
    sa32057 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa42603 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa45550 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
    • Targeting reagents:
    PHENOTYPE
    Data: 7 figures from 6 publications
    Observed in:
    DISEASE ASSOCIATED WITH nphs1 HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    nephrotic syndrome type 1 Nephrotic syndrome, type 1 256300
    DISEASE 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
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process pronephric glomerulus development (more)
    Cellular Component integral component of membrane (more)
    Molecular Function protein binding (more)
    GO Terms (all 7)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR003598 (1)
  • InterPro:IPR003599 (1)
  • InterPro:IPR003961 (1)
  • InterPro:IPR007110 (1)
  • InterPro:IPR013098 (1)
  • InterPro:IPR013162 (1)
  • InterPro:IPR013783 (1)
  • InterPro:IPR036116 (1)
  • InterPro:IPR036179 (1)
  • PROSITE:PS50835 (1)
  • PROSITE:PS50853 (1)
  • Pfam:PF00041 (1)
  • Pfam:PF07679 (1)
  • Pfam:PF08205 (1)
    • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA nphs1-202 (1) 3381
    Select Tool
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM nphs1 No data available
    MARKER RELATIONSHIPS
    nphs1 Contained in: [BAC] CH73-349G7 (1) (order this), DKEY-262K9 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001040687 (1) 3775 bp
    Select Tool
    Genomic GenBank:CU463790 (1) 178507 bp
    Select Tool
    Polypeptide UniProtKB:A0A2R8QLU2 (1) 1287 aa
    Select Tool
    Sequence Clusters UniGene:67450 (1)
    Sequence Information (all 22)
    OTHER nphs1 GENE PAGES
  • Alliance (1)
  • Gene:692352 (1)
  • VEGA:OTTDARG00000035876 (1)
  • Ensembl(GRCz11):ENSDARG00000060758 (1)
    • ORTHOLOGY for nphs1 ( Chr: 15 )
    CITATIONS (64)