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    Espn espin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 56227, updated on 9-Dec-2024

    Summary

    Official Symbol
    Espnprovided by RGD
    Official Full Name
    espinprovided by RGD
    Primary source
    RGD:620652
    See related
    EnsemblRapid:ENSRNOG00000010270 AllianceGenome:RGD:620652
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Je
    Summary
    Enables SH3 domain binding activity and actin filament binding activity. Predicted to be involved in microvillar actin bundle assembly and negative regulation of cytoskeleton organization. Predicted to act upstream of or within locomotory behavior; parallel actin filament bundle assembly; and positive regulation of filopodium assembly. Located in several cellular components, including actin cytoskeleton; brush border; and microvillus. Part of filamentous actin. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 36. Orthologous to human ESPN (espin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Testes (RPKM 77.9) and Kidney (RPKM 58.9) See more
    Orthologs
    NEW
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    Genomic context

    See Espn in Genome Data Viewer
    Location:
    5q36
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (167909271..167943168, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (162626560..162660439, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (169293356..169331338, complement)

    Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene pleckstrin homology and RhoGEF domain containing G5 Neighboring gene TNF receptor superfamily member 25 Neighboring gene hes family bHLH transcription factor 2 Neighboring gene uncharacterized LOC134487047

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in actin cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in brush border IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in brush border ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    part_of filamentous actin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microvillus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in stereocilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in stereocilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in stereocilium bundle ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in stereocilium tip ISO
    Inferred from Sequence Orthology
    more info
     
    located_in stereocilium tip ISO
    Inferred from Sequence Orthology
    more info
     
    located_in stereocilium tip ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    espin
    Names
    Jerker, deafness locus
    actin cytoskeletal regulatory protein
    ectoplasmic specialization protein

    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_019622.2NP_062568.2  espin

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000005
      UniProtKB/TrEMBL
      F1LQ34
      Conserved Domains (5) summary
      cd00204
      Location:166291
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam02205
      Location:633658
      WH2; WH2 motif
      pfam12796
      Location:210302
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:72124
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:205237
      ANK; ANK repeat [structural motif]

    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_086023.1 Reference GRCr8

      Range
      167909271..167943168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039110681.2XP_038966609.1  espin isoform X2

      Conserved Domains (3) summary
      sd00045
      Location:205237
      ANK; ANK repeat [structural motif]
      pfam02205
      Location:679704
      WH2; WH2 motif
      pfam12796
      Location:176266
      Ank_2; Ankyrin repeats (3 copies)
    2. XM_008764380.3XP_008762602.1  espin isoform X5

      Conserved Domains (5) summary
      cd00204
      Location:166291
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam02205
      Location:636661
      WH2; WH2 motif
      pfam12796
      Location:210302
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:72124
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:205237
      ANK; ANK repeat [structural motif]
    3. XM_008764377.3XP_008762599.1  espin isoform X3

      UniProtKB/TrEMBL
      A0A8I6ARF5
      Related
      ENSRNOP00000097437.1, ENSRNOT00000117287.2
      Conserved Domains (4) summary
      cd00204
      Location:166291
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam02205
      Location:666691
      WH2; WH2 motif
      pfam12796
      Location:210302
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:205237
      ANK; ANK repeat [structural motif]
    4. XM_039110682.2XP_038966610.1  espin isoform X4

      Conserved Domains (3) summary
      sd00045
      Location:205237
      ANK; ANK repeat [structural motif]
      pfam02205
      Location:652677
      WH2; WH2 motif
      pfam12796
      Location:176266
      Ank_2; Ankyrin repeats (3 copies)
    5. XM_039110680.2XP_038966608.1  espin isoform X1

      Conserved Domains (3) summary
      sd00045
      Location:205237
      ANK; ANK repeat [structural motif]
      pfam02205
      Location:682707
      WH2; WH2 motif
      pfam12796
      Location:176266
      Ank_2; Ankyrin repeats (3 copies)