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    EPS15 epidermal growth factor receptor pathway substrate 15 [ Homo sapiens (human) ]

    Gene ID: 2060, updated on 6-Jun-2024

    Summary

    Official Symbol
    EPS15provided by HGNC
    Official Full Name
    epidermal growth factor receptor pathway substrate 15provided by HGNC
    Primary source
    HGNC:HGNC:3419
    See related
    Ensembl:ENSG00000085832 MIM:600051; AllianceGenome:HGNC:3419
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AF1P; AF-1P; MLLT5
    Summary
    This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
    Expression
    Ubiquitous expression in brain (RPKM 29.8), testis (RPKM 29.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EPS15 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (51354263..51519266, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (51234162..51399178, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (51819935..51984938, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:51763453-51764095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:51777239-51777740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:51777741-51778240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:51778629-51779444 Neighboring gene tetratricopeptide repeat domain 39A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1022 Neighboring gene TTC39A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 876 Neighboring gene proteasome 26S subunit, non-ATPase 7 pseudogene Neighboring gene RNA, U6 small nuclear 877, pseudogene Neighboring gene MPRA-validated peak220 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:51984193-51985121 Neighboring gene EPS15 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1281, pseudogene Neighboring gene oxysterol binding protein like 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1026 Neighboring gene calreticulin 4, pseudogene

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of EPS15 by shRNA significantly inhibits HIV-1 replication in CD4+ T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies EPS15, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed
    Pr55(Gag) gag Inhibition of endocytosis by siRNA-mediated depletion of EPS15, STX7, RAB7, and VAMP7 restores Gag/p24 expression in the presence of APOL1 PubMed
    capsid gag Inhibition of endocytosis by siRNA-mediated depletion of EPS15, STX7, RAB7, and VAMP7 restores Gag/p24 expression in the presence of APOL1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cadherin binding HDA PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables polyubiquitin modification-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Golgi to endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in clathrin coat assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endocytic recycling IC
    Inferred by Curator
    more info
    PubMed 
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of receptor recycling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynaptic neurotransmitter receptor internalization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in receptor-mediated endocytosis of virus by host cell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in symbiont entry into host cell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vesicle organization TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in aggresome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basal plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of clathrin coat of coated pit IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in clathrin-coated pit TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    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 postsynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    epidermal growth factor receptor substrate 15
    Names
    ALL1 fused gene from chromosome 1
    protein AF-1p

    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_001159969.2NP_001153441.1  epidermal growth factor receptor substrate 15 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple exons at the 5' end and has a distinct 5' UTR and start codon, compared to variant 1. These differences result in a protein (isoform B) with a shorter and distinct N-terminus, compared to isoform A. Isoform B localizes to early endosome membranes.
      Source sequence(s)
      AA789139, AK294297, AW949896, BM681433, BX647676, DA801048, U07707
      Consensus CDS
      CCDS90955.1
      UniProtKB/TrEMBL
      B3KR37
      Related
      ENSP00000516332.1, ENST00000493793.2
      Conserved Domains (4) summary
      pfam07926
      Location:89195
      TPR_MLP1_2; TPR/MLP1/MLP2-like protein
      pfam10211
      Location:39121
      Ax_dynein_light; Axonemal dynein light chain
      pfam12329
      Location:82151
      TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
      pfam15898
      Location:129195
      PRKG1_interact; cGMP-dependent protein kinase interacting domain
    2. NM_001410796.1NP_001397725.1  epidermal growth factor receptor substrate 15 isoform C

      Status: REVIEWED

      Source sequence(s)
      AC104170, AL671986
      Consensus CDS
      CCDS90956.1
      UniProtKB/TrEMBL
      A0A994J5J3, B1AUU8
      Related
      ENSP00000516334.1, ENST00000706288.1
    3. NM_001410797.1NP_001397726.1  epidermal growth factor receptor substrate 15 isoform D

      Status: REVIEWED

      Source sequence(s)
      AC104170, AL671986
      Consensus CDS
      CCDS90957.1
      UniProtKB/TrEMBL
      A0A994J5A3, A0A994J5W4
      Related
      ENSP00000516336.1, ENST00000706292.1
    4. NM_001981.3NP_001972.1  epidermal growth factor receptor substrate 15 isoform A

      See identical proteins and their annotated locations for NP_001972.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A). Isoform A mainly localizes to clathrin-coated pits at the plasma membrane.
      Source sequence(s)
      AL671986, CD657119, Z29064
      Consensus CDS
      CCDS557.1
      UniProtKB/Swiss-Prot
      B2R8J7, D3DPJ2, P42566, Q5SRH4
      UniProtKB/TrEMBL
      B1AUU8
      Related
      ENSP00000360798.3, ENST00000371733.8
      Conserved Domains (5) summary
      smart00027
      Location:121215
      EH; Eps15 homology domain
      cd00052
      Location:228293
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam03528
      Location:332750
      Rabaptin; Rabaptin
      pfam12329
      Location:396465
      TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
      pfam16043
      Location:335501
      DUF4795; Domain of unknown function (DUF4795)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      51354263..51519266 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000618.3XP_016856107.1  epidermal growth factor receptor substrate 15 isoform X3

      UniProtKB/TrEMBL
      B1AUU8
    2. XM_017000617.3XP_016856106.1  epidermal growth factor receptor substrate 15 isoform X2

      UniProtKB/TrEMBL
      B1AUU8
      Related
      ENSP00000360795.2, ENST00000371730.6
    3. XM_017000616.3XP_016856105.1  epidermal growth factor receptor substrate 15 isoform X1

      UniProtKB/TrEMBL
      B1AUU8
    4. XM_047449243.1XP_047305199.1  epidermal growth factor receptor substrate 15 isoform X4

      UniProtKB/TrEMBL
      A0A994J5W4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      51234162..51399178 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335061.1XP_054191036.1  epidermal growth factor receptor substrate 15 isoform X3

      UniProtKB/TrEMBL
      Q7Z5V0
    2. XM_054335060.1XP_054191035.1  epidermal growth factor receptor substrate 15 isoform X2

      UniProtKB/TrEMBL
      Q7Z5V0
    3. XM_054335059.1XP_054191034.1  epidermal growth factor receptor substrate 15 isoform X1

      UniProtKB/TrEMBL
      Q7Z5V0
    4. XM_054335062.1XP_054191037.1  epidermal growth factor receptor substrate 15 isoform X4

      UniProtKB/TrEMBL
      A0A994J5W4