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General Information
Symbol
Hsap\NPHS1
Species
H. sapiens
Name
nephrosis 1, congenital, Finnish type (nephrin)
Annotation Symbol
Feature Type
FlyBase ID
FBgn0261533
Gene Model Status
Stock Availability
Also Known As
NPHS1
Tag or Foreign Gene Data
Foreign sequence; species == Homo sapiens; gene == NPHS1; HGNC:7908.
Function
GO Summary Ribbons
Protein Family (UniProt)
-
Protein Signatures (InterPro)
    -
    Molecular Function (GO)
    [Detailed GO annotations]
    Experimental Evidence
    -
    Predictions / Assertions
    -
    Summaries
    Gene Model and Products
    Number of Transcripts
    0
    Number of Unique Polypeptides
    0
    Protein Domains (via Pfam)
    Isoform displayed:
    Pfam protein domains
    InterPro name
    classification
    start
    end
    Protein Domains (via SMART)
    Isoform displayed:
    SMART protein domains
    InterPro name
    classification
    start
    end
    Comments on Gene Model
    Sequence Ontology: Class of Gene
    Transcript Data
    Annotated Transcripts
    Additional Transcript Data and Comments
    Reported size (kB)
    Comments
    External Data
    Crossreferences
    Polypeptide Data
    Annotated Polypeptides
    Polypeptides with Identical Sequences

     

    Additional Polypeptide Data and Comments
    Reported size (kDa)
    Comments
    External Data
    Crossreferences
    Linkouts
    Sequences Consistent with the Gene Model
    Nucleotide / Polypeptide Records
      Mapped Features

      Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Hsap\NPHS1 using the Feature Mapper tool.

      External Data
      Crossreferences
      Linkouts
      Gene Ontology (0 terms)
      Molecular Function (0 terms)
      Terms Based on Experimental Evidence (0 terms)
      Terms Based on Predictions or Assertions (0 terms)
      Biological Process (0 terms)
      Terms Based on Experimental Evidence (0 terms)
      Terms Based on Predictions or Assertions (0 terms)
      Cellular Component (0 terms)
      Terms Based on Experimental Evidence (0 terms)
      Terms Based on Predictions or Assertions (0 terms)
      Expression Data
      Expression Summary Ribbons
      Colored tiles in ribbon indicate that expression data has been curated by FlyBase for that anatomical location. Colorless tiles indicate that there is no curated data for that location.
      For complete stage-specific expression data, view the modENCODE Development RNA-Seq section under High-Throughput Expression below.
      Transcript Expression
      Additional Descriptive Data
      Marker for
       
      Subcellular Localization
      CV Term
      Polypeptide Expression
      Additional Descriptive Data
      Marker for
       
      Subcellular Localization
      CV Term
      Evidence
      References
      Expression Deduced from Reporters
      High-Throughput Expression Data
      Associated Tools

      GBrowse - Visual display of RNA-Seq signals

      View Hsap\NPHS1 in GBrowse 2
      RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region
      Reference
      See Gelbart and Emmert, 2013 for analysis details and data files for all genes.
      Developmental Proteome: Life Cycle
      Developmental Proteome: Embryogenesis
      External Data and Images
      Alleles, Insertions, and Transgenic Constructs
      Classical and Insertion Alleles ( 0 )
      For All Classical and Insertion Alleles Show
       
      Other relevant insertions
      Transgenic Constructs ( 2 )
      For All Alleles Carried on Transgenic Constructs Show
      Transgenic constructs containing/affecting coding region of Hsap\NPHS1
      Transgenic constructs containing regulatory region of Hsap\NPHS1
      Deletions and Duplications ( 0 )
      Phenotypes
      For more details about a specific phenotype click on the relevant allele symbol.
      Phenotype manifest in
      Allele
      Orthologs
      Human Orthologs (via DIOPT v7.1)
      Homo sapiens (Human) (0)
      No records found.
      Model Organism Orthologs (via DIOPT v7.1)
      Drosophila melanogaster (Fruit fly) (14)
      Species\Gene Symbol
      Score
      Best Score
      Best Reverse Score
      Alignment
      Complementation?
      Transgene?
      14 of 15
      Yes
      Yes
       
      11 of 15
      No
      Yes
       
      1 of 15
      No
      Yes
       
      1 of 15
      No
      No
       
      1 of 15
      No
      Yes
       
      1 of 15
      No
      Yes
       
      1 of 15
      No
      No
       
      1 of 15
      No
      No
       
      1 of 15
      No
      Yes
       
      1 of 15
      No
      Yes
       
      1 of 15
      No
      Yes
       
      1 of 15
      No
      Yes
       
      1 of 15
      No
      Yes
       
      1 of 15
      No
      Yes
       
      Ortholog(s) in Drosophila melanogaster (via OrthoDB v9.1) ( None identified )
      No D. melanogaster orthologies identified
      Human Disease Associations
      FlyBase Human Disease Model Reports
      Disease Model Summary Ribbon
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 0 )
      Allele
      Disease
      Evidence
      References
      Potential Models Based on Orthology ( 0 )
      Human Ortholog
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Allele
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease Associations of Human Orthologs (via DIOPT v7.1 and OMIM)
      Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.
      Homo sapiens (Human)
      Gene name
      Score
      OMIM
      OMIM Phenotype
      DO term
      Complementation?
      Transgene?
      Functional Complementation Data
      Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.
      Interactions
      Summary of Physical Interactions
      esyN Network Diagram
      Interactions Browser
      Summary of Genetic Interactions
      esyN Network Diagram
      Starting gene(s)
      Interaction type
      Interacting gene(s)
      Reference
      Starting gene(s)
      Interaction type
      Interacting gene(s)
      Reference
      External Data
      Linkouts
      Pathways
      Gene Group - Pathway Membership (FlyBase)
      External Data
      Linkouts
      Genomic Location and Detailed Mapping Data
      Chromosome (arm)
      Recombination map
      Cytogenetic map
      Sequence location
      FlyBase Computed Cytological Location
      Cytogenetic map
      Evidence for location
      Experimentally Determined Cytological Location
      Cytogenetic map
      Notes
      References
      Experimentally Determined Recombination Data
      Location
      Left of (cM)
      Right of (cM)
      Notes
      Stocks and Reagents
      Stocks (1)
      Genomic Clones (0)
       
        cDNA Clones (0)
         

        Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see GBrowse for alignment of the cDNAs and ESTs to the gene model.

        cDNA clones, fully sequences
        BDGP DGC clones
          Other clones
            Drosophila Genomics Resource Center cDNA clones

            For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

              cDNA Clones, End Sequenced (ESTs)
              BDGP DGC clones
                Other clones
                  RNAi and Array Information
                  Linkouts
                  Antibody Information
                  Laboratory Generated Antibodies
                   
                  Commercially Available Antibodies
                   
                  Other Information
                  Relationship to Other Genes
                  Source for database identify of
                  Source for database merge of
                  Additional comments
                  FlyBase curator comment: Name changed to reflect current HGNC name (19th Nov. 2012).
                  Other Comments
                  Origin and Etymology
                  Discoverer
                  Etymology
                  Identification
                  External Crossreferences and Linkouts ( 4 )
                  Synonyms and Secondary IDs (8)
                  Reported As
                  Name Synonyms
                  NPHS1 adhesion molecule, nephrin
                  Nephrosis 1, congenital, Finnish type (nephrin)
                  nephrosis 1, congenital, Finnish type (nephrin)
                  Secondary FlyBase IDs
                    Datasets (0)
                    Study focus (0)
                    Experimental Role
                    Project
                    Project Type
                    Title
                    References (5)