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    Nphs1 NPHS1 adhesion molecule, nephrin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 64563, updated on 9-Dec-2024

    Summary

    Official Symbol
    Nphs1provided by RGD
    Official Full Name
    NPHS1 adhesion molecule, nephrinprovided by RGD
    Primary source
    RGD:620460
    See related
    EnsemblRapid:ENSRNOG00000020873 AllianceGenome:RGD:620460
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables alpha-actinin binding activity; protein domain specific binding activity; and spectrin binding activity. Predicted to be involved in several processes, including myoblast fusion; skeletal muscle tissue development; and slit diaphragm assembly. Predicted to act upstream of or within several processes, including JNK cascade; cell adhesion; and positive regulation of actin filament polymerization. Located in basement membrane; plasma membrane; and slit diaphragm. Part of protein-containing complex. Biomarker of end stage renal disease; kidney failure; membranous glomerulonephritis; and nephrotic syndrome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 1. Orthologous to human NPHS1 (NPHS1 adhesion molecule, nephrin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward (RPKM 79.3) See more
    Orthologs
    NEW
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    Genomic context

    See Nphs1 in Genome Data Viewer
    Location:
    1q21
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (94848261..94876522)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (85720812..85749079)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (88922346..88950560)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene NFKB inhibitor delta Neighboring gene amyloid beta precursor like protein 1 Neighboring gene kirre like nephrin family adhesion molecule 2 Neighboring gene proline dehydrogenase 2 Neighboring gene similar to Gene model 1082 Neighboring gene Rho GTPase activating protein 33

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cell adhesion molecule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables myosin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables spectrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in JNK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within JNK cascade ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within MAPK cascade ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in glomerular basement membrane development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glomerular filtration IC
    Inferred by Curator
    more info
    PubMed 
    involved_in myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myoblast fusion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in podocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of actin filament polymerization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to synapse IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle tissue development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in slit diaphragm assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in slit diaphragm assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in slit diaphragm assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in basement membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cell periphery ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in slit diaphragm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    nephrin
    Names
    NPHS1 nephrin
    nephrosis 1 homolog, nephrin
    nephrosis 1, congenital, Finnish type (nephrin)
    renal glomerulus-specific cell adhesion receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_022628.1NP_072150.1  nephrin precursor

      See identical proteins and their annotated locations for NP_072150.1

      Status: PROVISIONAL

      Source sequence(s)
      AF161715
      UniProtKB/Swiss-Prot
      Q9JIX2, Q9QXX7, Q9R044
      Related
      ENSRNOP00000104408.1, ENSRNOT00000145765.1
      Conserved Domains (6) summary
      smart00410
      Location:859949
      IG_like; Immunoglobulin like
      cd00063
      Location:9551049
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:460555
      I-set; Immunoglobulin I-set domain
      pfam08205
      Location:155242
      C2-set_2; CD80-like C2-set immunoglobulin domain
      pfam13927
      Location:256335
      Ig_3; Immunoglobulin domain
      cl11960
      Location:848956
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086019.1 Reference GRCr8

      Range
      94848261..94876522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)