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

    Gene ID: 2060, updated on 19-May-2012

    Summary

    Official Symbol
    EPS15provided by HGNC
    Official Full Name
    epidermal growth factor receptor pathway substrate 15provided by HGNC
    Primary source
    HGNC:3419
    See related
    Ensembl:ENSG00000085832; HPRD:08968; MIM:600051; Vega:OTTHUMG00000008192
    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]

    Genomic context

    Location :
    1p32
    Sequence :
    Chromosome: 1; NC_000001.10 (51819935..51984995, complement)
    See EPS15 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene ring finger protein 11 Neighboring gene ribosomal protein S2 pseudogene 8 Neighboring gene tetratricopeptide repeat domain 39A Neighboring gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene Neighboring gene calreticulin 4, pseudogene Neighboring gene oxysterol binding protein-like 9 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 51

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001972.1 NP_004495.2 AGFG1    BIND  PubMed The EH domain of Eps15 interacts with the NPF motif of RAB. 
    NP_001972.1 NP_006067.2 AGFG2    BIND  PubMed The EH domain of Eps15 interacts with the NPF motif of RAB-R. This interaction was modeled on a demonstrated interaction between mouse Eps15 and human RAB-R. 
    NP_001972.1 NP_056975.1 CDC40    BIND  PubMed The EH domain of Eps15 interacts with the NPF motif of ehb3. This interaction was modeled on a demonstrated interaction between mouse Eps15 and human ehb3. 
    NP_001972.1 NP_055779.1 EPN2    BIND  PubMed The EH domain of Eps15 interacts with the NPF motif of ehb21, isoform b. This interaction was modeled on a demonstrated interaction between mouse Eps15 and human ehb21, isoform b. 
    NP_001972.1 NP_683723.1 EPN2    BIND  PubMed The EH domain of Eps15 interacts with the NPF motif of ehb21, isoform a. This interaction was modeled on a demonstrated interaction between mouse Eps15 and human ehb21, isoform a. 
    NP_001972.1 AAD01548.1 NUMB    BIND  PubMed The EH domain of Eps15 interacts with the NPF motif of NUMB. 
    NP_001972.1 NP_004747.1 NUMBL    BIND  PubMed The EH domain of Eps15 interacts with the NPF motif of NUMB-R. This interaction was modeled on a demonstrated interaction between mouse Eps15 and human NUMB-R. 
    NP_001972.1 NP_055187.1 RNF11    BIND  PubMed RNF11 interacts with EPS15. 
    NP_001972.1 NP_055336.1 SH3BP4    BIND  PubMed The EH domain of Eps15 interacts with the NPF motif of ehb10. This interaction was modeled on a demonstrated interaction between mouse Eps15 and human ehb10. 
    P42566 P52594 AGFG1    HPRD  PubMed  
    P42566 O95081 AGFG2    HPRD  PubMed  
    P42566 O95782 AP2A1    HPRD  PubMed  
    P42566 O94973 AP2A2    HPRD  PubMed  
    P42566 P46108 CRK    HPRD  PubMed  
    P42566 Q05193 DNM1    HPRD  PubMed  
    P42566 P50570 DNM2    HPRD  PubMed  
    P42566 P00533 EGFR    HPRD  PubMed  
    P42566 E74 like factor 3 ELF3    HPRD  PubMed  
    P42566 Q9Y6I3 EPN1    HPRD  PubMed  
    P42566 O95208 EPN2    HPRD  PubMed  
    P42566 P42566 EPS15    HPRD  PubMed  
    P42566 O14964 HGS    HPRD  PubMed  
    P42566 Q15811 ITSN1    HPRD  PubMed  
    P42566 Q13571 LAPTM5    HPRD  PubMed  
    P42566 Q9Y3A3 MOB4    HPRD  PubMed  
    P42566 Q9UK23 NAGPA    HPRD  PubMed  
    P42566 P46934 NEDD4    HPRD  PubMed  
    P42566 P49757 NUMB    HPRD  PubMed  
    P42566 Q9Y6R0 NUMBL    HPRD  PubMed  
    P42566 Q8NFH8 REPS2    HPRD  PubMed  
    P42566 Q9Y3C5 RNF11    HPRD  PubMed  
    P42566 O60641 SNAP91    HPRD  PubMed  
    P42566 Q8N0X7 SPG20    HPRD  PubMed  
    P42566 O75886 STAM2    HPRD  PubMed  
    P42566 O95630 STAMBP    HPRD  PubMed  
    P42566 Q8WXE9 STON2    HPRD  PubMed  
    P42566 O43426 SYNJ1    HPRD  PubMed  
    P42566 Ubiquitin B UBB    HPRD  PubMed  
    P42566 Q9UMX0 UBQLN1    HPRD  PubMed  
    BioGRID:108374 BioGRID:109503 AGFG1    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Phenotypic Enhancement; Two-hybrid 
    BioGRID:108374 BioGRID:109504 AGFG2    BioGRID  PubMed Co-fractionation 
    BioGRID:108374 BioGRID:106669 AP2A1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:106670 AP2A2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108374 BioGRID:107358 CD4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:115038 CLINT1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108374 BioGRID:107788 CRK    BioGRID  PubMed Far Western; Reconstituted Complex 
    BioGRID:108374 BioGRID:108122 DNM2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:108276 EGFR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:118965 EPN1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108374 BioGRID:108374 EPS15    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:125437 FCHO2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:108964 GJA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-Western; Far Western; Reconstituted Complex 
    BioGRID:108374 BioGRID:114593 HGS    BioGRID  PubMed Co-fractionation; Reconstituted Complex; Two-hybrid 
    BioGRID:108374 BioGRID:119351 NAGPA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108374 BioGRID:110811 NEDD4    BioGRID  PubMed Biochemical Activity 
    BioGRID:108374 BioGRID:111004 OCLN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:111105 PARK2    BioGRID  PubMed Biochemical Activity; Reconstituted Complex 
    BioGRID:108374 BioGRID:111683 PSMD4    BioGRID  PubMed Biochemical Activity 
    BioGRID:108374 BioGRID:116514 RAB11FIP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:114622 REPS2    BioGRID  PubMed Affinity Capture-Western; Far Western 
    BioGRID:108374 BioGRID:117941 RNF11    BioGRID  PubMed Two-hybrid 
    BioGRID:108374 BioGRID:114899 SCAMP1    BioGRID  PubMed Two-hybrid 
    BioGRID:108374 BioGRID:112422 SLC6A3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:115222 SNAP91    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108374 BioGRID:115548 STAM2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:124526 STON2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108374 BioGRID:250042 Synj1    BioGRID  PubMed Far Western; Reconstituted Complex 
    BioGRID:108374 BioGRID:112898 TGFB1    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:108374 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108374 BioGRID:113169 UBE2D1    BioGRID  PubMed Biochemical Activity 
    BioGRID:108374 BioGRID:113170 UBE2D2    BioGRID  PubMed Biochemical Activity 
    BioGRID:108374 BioGRID:113171 UBE2D3    BioGRID  PubMed Biochemical Activity 
    BioGRID:108374 BioGRID:113172 UBE2E1    BioGRID  PubMed Biochemical Activity 
    BioGRID:108374 BioGRID:113176 UBE2H    BioGRID  PubMed Biochemical Activity 
    BioGRID:108374 BioGRID:31215 UBI4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108374 BioGRID:119007 UBQLN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108374 BioGRID:114555 USP8    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108374 BioGRID:206739 Zwint    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • EGFR downregulation, organism-specific biosystem (from REACTOME)
      EGFR downregulation, organism-specific biosystemRegulation of receptor tyrosine kinase (RTK) activity is implicated in the control of almost all cellular functions. One of the best understood RTKs is epidermal growth factor receptor (EGFR). Growth...
    • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
    • 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...
    • Internalization of ErbB1, organism-specific biosystem (from Pathway Interaction Database)
      Internalization of ErbB1, organism-specific biosystem
      Internalization of ErbB1
    • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Notch signaling pathway, organism-specific biosystem
      Notch signaling pathway
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by EGFR in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by EGFR in Cancer, organism-specific biosystemThe pathway "Signaling by EGFR in Cancer" shows "Signaling by constitutively active EGFR" in parallel with "Signaling by EGFR". This allows users to compare signaling by constitutively active EGFR ca...
    • Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    clathrin coat assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endocytic recycling IC
    Inferred by Curator
    more info
    PubMed 
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    negative regulation of epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle organization TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    AP-2 adaptor complex IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    coated pit TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    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_001159969.1NP_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
      UniProtKB/TrEMBL
      B7Z240
      UniProtKB/Swiss-Prot
      P42566
      Related
      ENSP00000379428, ENST00000396122
      Conserved Domains (2) summary
      TIGR02169
      Location:33184
      Blast Score: 116
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam12325
      Location:109188
      Blast Score: 112
      TMF_TATA_bd; TATA element modulatory factor 1 TATA binding
    2. NM_001981.2NP_001972.1  epidermal growth factor receptor substrate 15 isoform A

      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
      P42566
      Related
      ENSP00000360798, OTTHUMP00000009896, ENST00000371733, OTTHUMT00000022422
      Conserved Domains (4) summary
      cd00052
      Location:228293
      Blast Score: 232
      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 ...
      TIGR02168
      Location:333490
      Blast Score: 134
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam12325
      Location:423502
      Blast Score: 115
      TMF_TATA_bd; TATA element modulatory factor 1 TATA binding
      smart00027
      Location:121215
      Blast Score: 365
      EH; Eps15 homology domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      51819935..51984995, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      49937536..50064736, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC104170.2 (2000..101593) None
    genomic AL110230.1 None
    genomic AL671986.7 CAI13030.1
      CAI13031.1
    genomic CH471059.2 EAX06822.1
      EAX06823.1
      EAX06824.1
    genomic FB342945.1 CAR81473.1
    genomic FB711068.1 CAS91489.1
    mRNA AA789139.1 None
    mRNA AF052132.1 None
    mRNA AK090936.1 BAG52249.1
    mRNA AK129853.1 None
    mRNA AK294297.1 BAH11726.1
    mRNA AK308128.1 None
    mRNA AK313396.1 BAG36194.1
    mRNA AW949896.1 None
    mRNA BC054006.1 AAH54006.1
    mRNA BM681433.1 None
    mRNA BX647676.1 None
    mRNA CD657119.1 None
    mRNA DA801048.1 None
    mRNA DQ367924.1 ABD34786.1
    mRNA U07707.1 AAA52101.1
    mRNA Z29064.1 CAA82305.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P42566.2 GenPept UniProtKB/Swiss-Prot:P42566
    Q7Z5V0 GenPept UniProtKB/TrEMBL:Q7Z5V0

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