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EPS15 Gene

protein-coding   GIFtS: 65
GCID: GC01M051819

Epidermal Growth Factor Receptor Pathway Substrate 15

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Epidermal Growth Factor Receptor Pathway Substrate 151 2     MLLT52
Protein AF-1p2 3     ALL1 Fused Gene From Chromosome 12
AF1P2 3     Epidermal Growth Factor Receptor Substrate 152
AF-1P2     Protein Eps153

External Ids:    HGNC: 34191   Entrez Gene: 20602   Ensembl: ENSG000000858327   OMIM: 6000515   UniProtKB: P425663   

Export aliases for EPS15 gene to outside databases

Previous GC identifers: GC01M051447 GC01M050709 GC01M051179 GC01M051190 GC01M051532 GC01M049937


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EPS15 Gene:
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)

GeneCards Summary for EPS15 Gene:
EPS15 (epidermal growth factor receptor pathway substrate 15) is a protein-coding gene. Diseases associated with EPS15 include troyer syndrome, and menkes disease. GO annotations related to this gene include SH3 domain binding and calcium ion binding. An important paralog of this gene is REPS1.

UniProtKB/Swiss-Prot: EPS15_HUMAN, P42566
Function: Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control
of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine
kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Seems to be
involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1)
and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require
association with DAB2

Gene Wiki entry for EPS15 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EPS15 gene promoter:
         AP-1   AP-2alpha isoform 3   ATF-2   AP-2alpha isoform 2   E2F-1   E2F   AP-2alpha isoform 4   c-Jun   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPS15 promoter sequence
   Search Chromatin IP Primers for EPS15

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EPS15


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32

EPS15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPS15 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M051819:  view genomic region     (about GC identifiers)

Start:
51,819,935 bp from pter      End:
51,985,000 bp from pter
Size:
165,066 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: EPS15_HUMAN, P42566 (See protein sequence)
Recommended Name: Epidermal growth factor receptor substrate 15  
Size: 896 amino acids; 98656 Da
Subunit: Interacts with SGIP1 (By similarity). Interacts with HGS; the interaction bridges the interaction of STAM
or STAM2 with EPS15. Isoform 2 interacts with HGS and AP2A2. Part of a complex at least composed of EPS15, HGS,
and either STAM1 or STAM2. Binds AP2A2. Interacts with AP2B1; clathrin competes with EPS15. Binds STON2 and EPN1.
Interacts (via its SH3-binding sites) with CRK. Interacts with SH3BP4/TTP. Interacts with ERBB2. Interacts with
FCHO1. Interacts with FCHO2. Interacts (via EH domains) with DAB2
Caution: Studies in clathrin-mediated endocytosis of ITGB1 and TFR used a siRNA mixture of EPS15 and EPS15L1, and
a Dab2 mutant with impaired binding to EH domain-containing proteins EPS15 and ITSN1 suggesting a partially
overlapping role of the EH domain-containing proteins (PubMed:22648170)
6 PDB 3D structures from and Proteopedia for EPS15:
1C07 (3D)        1EH2 (3D)        1F8H (3D)        1FF1 (3D)        2IV9 (3D)        2JXC (3D)    
Secondary accessions: B2R8J7 D3DPJ2 Q5SRH4
Alternative splicing: 2 isoforms:  P42566-1   P42566-2   

Explore the universe of human proteins at neXtProt for EPS15: NX_P42566

Explore proteomics data for EPS15 at MOPED

Post-translational modifications: 

  • Phosphorylation on Tyr-849 is involved in the internalization of EGFR. Not required for membrane translocation
    after EGF treatment or for targeting to coated pits, but essential for a subsequent step in EGFR endocytosis (By
    similarity). Phosphorylated on serine upon DNA damage, probably by ATM or ATR1
  • Ubiquitination2 at Lys413, Lys495, Lys638, Lys754, Lys788, Lys793, Lys801, Lys818, Lys860, Lys890
  • Modification sites at PhosphoSitePlus

  • See EPS15 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001153441.1  NP_001972.1  

    ENSEMBL proteins: 
     ENSP00000360795   ENSP00000360798   ENSP00000474739   ENSP00000379428  
    Reactome Protein details: P42566

    EPS15 Human Recombinant Protein Products:

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    Novus Biologicals EPS15 Lysate
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    Cloud-Clone Corp. Proteins for EPS15

    EPS15 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    EPS15 Assay Products:

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    Cloud-Clone Corp. CLIAs for EPS15


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    5 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR000261 EPS15_homology
     IPR003903 Ubiquitin-int_motif
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry P42566

    ProtoNet protein and cluster: P42566

    2 Blocks protein domains:
    IPB000261 EPS15 homology (EH)
    IPB003903 Ubiquitin interacting motif


    UniProtKB/Swiss-Prot: EPS15_HUMAN, P42566
    Domain: The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 3 EH domains
    Similarity: Contains 2 UIM (ubiquitin-interacting motif) repeats


    EPS15 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EPS15_HUMAN, P42566
    Function: Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control
    of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine
    kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Seems to be
    involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1)
    and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require
    association with DAB2

         Genatlas biochemistry entry for EPS15:
    EGFR pathway substrate,mouse eps15 homolog,likely involved in cell growth regulation

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI10383425
    GO:0017124SH3 domain binding IEA--
    GO:0042802identical protein binding IEA--
         
    EPS15 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Eps15):
     cellular  hematopoietic system  immune system  nervous system 

    EPS15 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Eps15tm1Noff for EPS15

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EPS15
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EPS15

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPS15
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EPS15

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate EPS15 (see all 78):
    hsa-miR-607 hsa-miR-374a hsa-miR-138-2* hsa-miR-371-5p hsa-miR-556-3p hsa-miR-200b hsa-miR-130b hsa-miR-130a*
    SwitchGear 3'UTR luciferase reporter plasmidEPS15 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for EPS15
    Predesigned siRNA for gene silencing in human, mouse, rat EPS15

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EPS15 (NM_001981)
    Sino Biological Human cDNA Clone for EPS15
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPS15
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPS15

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPS15


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EPS15_HUMAN, P42566: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Membrane,
    clathrin-coated pit. Note=Recruited to the plasma membrane upon EGFR activation and localizes to coated pits
    EPS15_HUMAN, P42566: Isoform 2: Early endosome membrane; Peripheral membrane protein; Cytoplasmic side.
    Note=Colocalizes with HGS on bilayered clathrin coats on endosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    cytosol4
    nucleus3
    cytoskeleton2
    golgi apparatus1
    lysosome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA15465819
    GO:0005905coated pit TAS9762922
    GO:0030122AP-2 adaptor complex IEA--

    EPS15 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EPS15 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by FGFR
    Signaling by EGFR0.83
    Signaling by EGFR in Cancer0.82
    2Clathrin dependent protein traffic
    Transport Clathrin coated vesicle cycle0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    3Signaling by GPCR
    Signal Transduction0.58
    4Endocytic Trafficking of EGFR
    Endocytic Trafficking of EGFR0.36
    5Tyrosine Kinases / Adaptors
    Tyrosine Kinases / Adaptors

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for EPS15
        Endocytic Trafficking of EGFR

    1 Cell Signaling Technology (CST) Pathway for EPS15
        Tyrosine Kinases / Adaptors

    2 GeneGo (Thomson Reuters) Pathways for EPS15
        wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    4 BioSystems Pathways for EPS15
        EGFR1 Signaling Pathway
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    Internalization of ErbB1
    Notch signaling pathway


    1 Reactome Pathway for EPS15
        EGFR downregulation


    1 Kegg Pathway  (Kegg details for EPS15):
        Endocytosis


    EPS15 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EPS15
    Interactions:

        GeneGlobe Interaction Network for EPS15

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EPS15 (P425661, 2, 3 ENSP000003607984) via UniProtKB, MINT, STRING, and/or I2D (see all 244)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STON2Q8WXE91, 2, 3, ENSP000002675404EBI-396684,EBI-539742 MINT-6180038 MINT-6180111 MINT-6180129 MINT-6180018 MINT-6179779 MINT-6179905 MINT-6180093 MINT-6179941 MINT-6180075 MINT-6179996 MINT-6179890 MINT-6179923 MINT-6179875 MINT-6179857 MINT-6179977 MINT-6180056 I2D: score=4 STRING: ENSP00000267540
    NUMBP497572, 3, ENSP000003471694MINT-17946 MINT-17947 I2D: score=5 STRING: ENSP00000347169
    AGFG1P525942, 3MINT-50023 MINT-50024 I2D: score=5 
    LAPTM5Q135712, 3, ENSP000002945074MINT-62182 I2D: score=3 STRING: ENSP00000294507
    SH3BP4Q9P0V32, 3, ENSP000003402374MINT-7159813 I2D: score=2 STRING: ENSP00000340237
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0008283cell proliferation TAS8183552
    GO:0015031protein transport IEA--
    GO:0016050vesicle organization TAS9762922

    EPS15 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EPS15

    5 Novoseek inferred chemical compound relationships for EPS15 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 47.2 30 10953014 (5), 19109251 (3), 7689153 (2), 9162018 (2) (see all 16)
    phosphotyrosine 37.8 6 15465819 (1), 10953014 (1), 15155807 (1)
    cholesterol 0 2 16919152 (1), 17919781 (1)
    lipid 0 1 16887992 (1)
    phosphatidylinositol 0 2 17412695 (2)



    EPS15 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EPS15 gene (2 alternative transcripts): 
    NM_001159969.1  NM_001981.2  

    Unigene Cluster for EPS15:

    Epidermal growth factor receptor pathway substrate 15
    Hs.83722  [show with all ESTs]
    Unigene Representative Sequence: NM_001981
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371730 ENST00000371733(uc001csp.3 uc001csq.1 uc009vyz.1)
    ENST00000486505 ENST00000478657 ENST00000493793 ENST00000371727 ENST00000464478
    ENST00000471391 ENST00000465467 ENST00000396122
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate EPS15 (see all 78):
    hsa-miR-607 hsa-miR-374a hsa-miR-138-2* hsa-miR-371-5p hsa-miR-556-3p hsa-miR-200b hsa-miR-130b hsa-miR-130a*
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    GenScript: all cDNA clones in your preferred vector (see all 2): EPS15 (NM_001981)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPS15
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      QuantiFast Probe-based Assays in human, mouse, rat EPS15

    Additional mRNA sequence: 

    AF052132.1 AK090936.1 AK129853.1 AK294297.1 AK308128.1 AK313396.1 BC054006.1 BX647676.1 
    DQ367924.1 U07707.1 Z29064.1 Z29070.1 

    11 DOTS entries:

    DT.100777918  DT.447690  DT.95290133  DT.95290139  DT.100008201  DT.99946098  DT.95290125  DT.91771128 
    DT.95290138  DT.100737445  DT.97779149 

    Selected AceView cDNA sequences (see all 287):

    AI804840 D87737 AL043493 AI520942 AI690679 AI989954 AI003407 AA642346 
    AA234969 Z44586 BM765791 BF445696 BU147062 BU742017 AI864625 AI191519 
    CA414407 BF059527 BE550950 AI472645 F10989 AW949896 AL712061 BM907204 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for EPS15    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:              -     -     -                                               -                             -                                                   
    SP2:              -     -     -                                               -                             -                       -     -                     
    SP3:                                                                                                                          -     -                           
    SP4:              -     -     -                                                                                                                                 
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for EPS15

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EPS15 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTGTCCAA
    EPS15 Expression
    About this image


    EPS15 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    EPS15 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPS15 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.83722

    UniProtKB/Swiss-Prot: EPS15_HUMAN, P42566
    Tissue specificity: Ubiquitously expressed

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for EPS15 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eps151 , 5 epidermal growth factor receptor pathway substrate more1, 5 89.45(n)1
    89.6(a)1
      4 (51.29 cM)5
    138581  NM_007943.31  NP_031969.11 
     1092802685 
    chicken
    (Gallus gallus)
    Aves EPS151 epidermal growth factor receptor pathway substrate more 77.64(n)
    77.9(a)
      424633  NM_001031283.1  NP_001026454.1 
    lizard
    (Anolis carolinensis)
    Reptilia EPS156
    epidermal growth factor receptor pathway substrate...
    72(a)
    1 ↔ 1
    4(113993467-114075163)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia eps151 epidermal growth factor receptor pathway substrate more 65.79(n)
    65.75(a)
      100145116  NM_001126628.2  NP_001120100.2 
    zebrafish
    (Danio rerio)
    Actinopterygii eps151 epidermal growth factor receptor pathway substrate more 60.63(n)
    61.72(a)
      795505  XM_002663099.3  XP_002663145.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Eps-156
    Epidermal growth factor receptor pathway substrate...
    23(a)
    1 → many
    2R(20655837-20662788)
    worm
    (Caenorhabditis elegans)
    Secernentea ehs-16
    Protein EHS-1, isoform b (ehs-1) mRNA, complete cd...
    27(a)
    1 → many
    II(5820712-5824085) WBGene00001224
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes EDE1(YBL047C)4 Key endocytic protein involved in a network of interactions more   --   2(132040-127895) 852233  NP_009506.1 


    ENSEMBL Gene Tree for EPS15 (if available)
    TreeFam Gene Tree for EPS15 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EPS15 gene
    REPS12  EPS15L12  EHD32  REPS22  EHD22  EHD12  EHD42  ITSN12  
    ITSN22  SRL2  
    2 SIMAP similar genes for EPS15 using alignment to 4 protein entries:     EPS15_HUMAN (see all proteins):
    EPS15L1    DKFZp586A0524

    EPS15 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EPS15 (see all 3334)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs679200391,2
    C--50014457(-) ATTTT-/TGTGTGT 1 -- int11Minor allele frequency- TG:0.00NA 2
    rs1856889101,2
    --51819574(+) TGAGAC/TGGAGT 2 -- ds50010--------
    rs112058371,2
    C,A,H--51819592(+) tgtcaC/Tccagg 2 -- ds50010--------
    rs1885508301,2
    --51819621(+) ATCTCA/GGCTCA 2 -- ds50010--------
    rs1921095271,2
    --51819676(+) CCTCCC/TGAGTA 2 -- ds50010--------
    rs120704161,2
    F--51819717(+) TGCTAA/TTTTTT 2 -- ds50012Minor allele frequency- T:0.05NA WA 120
    rs1838370871,2
    --51819751(+) TTTCAC/TCATGT 2 -- ds50010--------
    rs1455458531,2
    --51819808(+) TTGGCA/CTCCCA 2 -- ds50010--------
    rs24056981,2
    --51819833(+) caggcA/Gcgagc 2 -- ds50010--------
    rs794314741,2
    C,F--51819835(+) GGCGCG/AAGCCA 2 -- ds50012Minor allele frequency- A:0.04CSA NA 122

    HapMap Linkage Disequilibrium report for EPS15 (51819935 - 51985000 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for EPS15:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659806CNV Deletion23128226
    esv272092CNV Insertion20981092
    esv273142CNV Insertion20981092
    esv25434CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600051    OMIM disorders: --

    UniProtKB/Swiss-Prot: EPS15_HUMAN, P42566
  • Note=A chromosomal aberration involving EPS15 is found in acute leukemias. Translocation t(1;11)(p32;q23)
    with KMT2A/MLL1. The result is a rogue activator protein

  • 14 diseases for EPS15:    
    About MalaCards
    troyer syndrome    menkes disease    down syndrome    allergic rhinitis
    leukemia    vaccinia    rhinitis    acute leukemia
    hepatocellular carcinoma    breast cancer    endotheliitis    hiv-1
    multiple myeloma    myeloma


    EPS15 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for EPS15 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 11.5 1 14525795 (1)
    tumors 0 2 7791787 (1), 10481267 (1)

    Genetic Association Database (GAD): EPS15
    Human Genome Epidemiology (HuGE) Navigator: EPS15 (2 documents)

    Export disorders for EPS15 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EPS15 gene, integrated from 10 sources (see all 220):
    (articles sorted by number of sources associating them with EPS15)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32. (PubMed id 8183552)1, 2, 3, 9 Wong W.T.... di Fiore P.P. (Oncogene 1994)
    2. An endosomally localized isoform of Eps15 interacts with Hrs to mediate degradation of epidermal growth factor receptor. (PubMed id 18362181)1, 2, 9 Roxrud I.... Stenmark H. (J. Cell Biol. 2008)
    3. STAM and Hrs are subunits of a multivalent ubiquitin-binding complex on early endosomes. (PubMed id 12551915)1, 2, 9 Bache K.G.... Stenmark H. (J. Biol. Chem. 2003)
    4. Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis. (PubMed id 9723620)1, 2, 9 Chen H.... De Camilli P. (Nature 1998)
    5. Structure and Asn-Pro-Phe binding pocket of the Eps15 homology domain. (PubMed id 9721102)1, 2, 9 de Beer T.... Overduin M. (Science 1998)
    6. Solution structure of Eps15's third EH domain reveals coincident Phe- Trp and Asn-Pro-Phe binding sites. (PubMed id 10757979)1, 2, 9 Enmon J.L.... Overduin M. (Biochemistry 2000)
    7. Molecular mechanism of NPF recognition by EH domains. (PubMed id 11062555)1, 2, 9 de Beer T.... Overduin M. (Nat. Struct. Biol. 2000)
    8. The clathrin adaptor Dab2 recruits EH domain scaffold proteins to regulate integrin beta1 endocytosis. (PubMed id 22648170)1, 2 Teckchandani A.... Cooper J.A. (Mol. Biol. Cell 2012)
    9. Characterization of the EFC/F-BAR domain protein, FCHO2. (PubMed id 21762413)1, 2 Uezu A.... Nakanishi H. (Genes Cells 2011)
    10. A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. (PubMed id 22036096)1, 4 Ramasamy A....Jarvis D.L. (J. Allergy Clin. Immunol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2060 HGNC: 3419 AceView: EPS15 Ensembl:ENSG00000085832 euGenes: HUgn2060
    ECgene: EPS15 Kegg: 2060 H-InvDB: EPS15

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EPS15 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EPS15 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EPS15 gene:
    Search GeneIP for patents involving EPS15

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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