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    Nphs1 nephrosis 1, nephrin [ Mus musculus (house mouse) ]

    Gene ID: 54631, updated on 5-Nov-2017
    Official Symbol
    Nphs1provided by MGI
    Official Full Name
    nephrosis 1, nephrinprovided by MGI
    Primary source
    MGI:MGI:1859637
    See related
    Ensembl:ENSMUSG00000006649 Vega:OTTMUSG00000031081
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    nephrin; NephrinB
    Expression
    Biased expression in kidney adult (RPKM 9.9), small intestine adult (RPKM 0.8) and 2 other tissues See more
    Orthologs
    Location:
    7; 7 B1
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 7 NC_000073.6 (30458206..30488609)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (31245077..31273628)

    Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene amyloid beta (A4) precursor-like protein 1 Neighboring gene kirre like nephrin family adhesion molecule 2 Neighboring gene predicted gene, 45979 Neighboring gene nephrosis 1 homolog, nephrin, opposite strand Neighboring gene ribosomal protein S12, pseudogene 4 Neighboring gene proline dehydrogenase (oxidase) 2 Neighboring gene Rho GTPase activating protein 33, opposite strand

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    alpha-actinin binding ISO
    Inferred from Sequence Orthology
    more info
     
    myosin binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    spectrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    JNK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell adhesion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    myoblast fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of actin filament polymerization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein localization to synapse ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of excretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    membrane raft ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    slit diaphragm ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    nephrin
    Names
    nephrin 1
    nephrosis 1 homolog, nephrin
    renal glomerulus-specific cell adhesion receptor

    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)

    1. NM_019459.2NP_062332.2  nephrin precursor

      See identical proteins and their annotated locations for NP_062332.2

      Status: VALIDATED

      Source sequence(s)
      AC167970, AF172256, AF191090, AK141081
      Consensus CDS
      CCDS39884.1
      UniProtKB/Swiss-Prot
      Q9QZS7
      Related
      ENSMUSP00000006825.8, OTTMUSP00000040603, ENSMUST00000006825.8, OTTMUST00000076995
      Conserved Domains (6) summary
      smart00410
      Location:859949
      IG_like; Immunoglobulin like
      pfam07679
      Location:460555
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:9561039
      fn3; Fibronectin type III domain
      pfam08205
      Location:155242
      C2-set_2; CD80-like C2-set immunoglobulin domain
      pfam13927
      Location:753834
      Ig_3; Immunoglobulin domain
      cl11960
      Location:848956
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000073.6 Reference GRCm38.p4 C57BL/6J

      Range
      30458206..30488609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011250647.1XP_011248949.1  nephrin isoform X1

      See identical proteins and their annotated locations for XP_011248949.1

      UniProtKB/Swiss-Prot
      Q9QZS7
      Related
      ENSMUSP00000116500.2, OTTMUSP00000075916, ENSMUST00000126297.8, OTTMUST00000145715
      Conserved Domains (6) summary
      smart00410
      Location:845935
      IG_like; Immunoglobulin like
      pfam07679
      Location:446541
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:9421025
      fn3; Fibronectin type III domain
      pfam08205
      Location:141228
      C2-set_2; CD80-like C2-set immunoglobulin domain
      pfam13927
      Location:739820
      Ig_3; Immunoglobulin domain
      cl11960
      Location:834942
      Ig; Immunoglobulin domain
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