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    EPN3 epsin 3 [ Homo sapiens (human) ]

    Gene ID: 55040, updated on 15-Jun-2019

    Summary

    Official Symbol
    EPN3provided by HGNC
    Official Full Name
    epsin 3provided by HGNC
    Primary source
    HGNC:HGNC:18235
    See related
    Ensembl:ENSG00000049283 MIM:607264
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Broad expression in stomach (RPKM 11.8), esophagus (RPKM 7.2) and 16 other tissues See more
    Orthologs

    Genomic context

    See EPN3 in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (50532687..50543750)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48610043..48621111)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene radical S-adenosyl methionine domain containing 1 Neighboring gene MYCBP associated protein Neighboring gene uncharacterized LOC105371824 Neighboring gene spermatogenesis associated 20 Neighboring gene CACNA1G antisense RNA 1 Neighboring gene calcium voltage-gated channel subunit alpha1 G

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20778, MGC129899

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    EH domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    extrinsic component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    epsin-3
    Names
    EPS-15-interacting protein 3

    NCBI Reference Sequences (RefSeq)

    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_017957.3NP_060427.2  epsin-3

      See identical proteins and their annotated locations for NP_060427.2

      Status: VALIDATED

      Source sequence(s)
      AF324241, AK000785, BM981734, BU539570, CA944655, DA392550, DC388544
      Consensus CDS
      CCDS11570.1
      UniProtKB/Swiss-Prot
      Q9H201
      Related
      ENSP00000268933.3, ENST00000268933.8
      Conserved Domains (3) summary
      smart00726
      Location:209228
      UIM; Ubiquitin-interacting motif
      cd03571
      Location:19141
      ENTH_epsin; ENTH domain, Epsin family; The epsin (Eps15 interactor) N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in clathrin-mediated endocytosis. A set of proteins previously designated ...
      pfam02809
      Location:236252
      UIM; Ubiquitin interaction motif

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      50532735..50543750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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