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    EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1 [ Homo sapiens ]

    Gene ID: 58513, updated on 19-May-2012

    Summary

    Official Symbol
    EPS15L1provided by HGNC
    Official Full Name
    epidermal growth factor receptor pathway substrate 15-like 1provided by HGNC
    Primary source
    HGNC:24634
    See related
    Ensembl:ENSG00000127527; HPRD:09445
    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
    Also known as
    EPS15R

    Genomic context

    Location :
    19p13.11
    Sequence :
    Chromosome: 19; NC_000019.9 (16472408..16582762, complement)
    See EPS15L1 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene adaptor-related protein complex 1, mu 1 subunit Neighboring gene Kruppel-like factor 2 (lung) Neighboring gene ribosomal protein S2 pseudogene 51 Neighboring gene calreticulin 3 Neighboring gene chromosome 19 open reading frame 44 Neighboring gene calcium homeostasis endoplasmic reticulum protein

    Genomic regions, transcripts, and products

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9UBC2 P52594 AGFG1    HPRD  PubMed  
    Q9UBC2 O95081 AGFG2    HPRD  PubMed  
    Q9UBC2 Q9Y6I3 EPN1    HPRD  PubMed  
    Q9UBC2 Q8WXE9 STON2    HPRD  PubMed  
    BioGRID:121840 BioGRID:109503 AGFG1    BioGRID  PubMed Phenotypic Enhancement; Two-hybrid 
    BioGRID:121840 BioGRID:118965 EPN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:121840 BioGRID:211904 Ndc80    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121840 BioGRID:124526 STON2    BioGRID  PubMed Two-hybrid 
    BioGRID:121840 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:121840 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...
    • 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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    Component Evidence Code Pubs
    coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    epidermal growth factor receptor substrate 15-like 1
    Names
    epidermal growth factor receptor substrate 15-like 1
    eps15-related protein
    epidermal growth factor receptor substrate EPS15R

    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_001258374.1NP_001245303.1  epidermal growth factor receptor substrate 15-like 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AU121887, BC067114, CA311813, DC416977
    2. NM_001258375.1NP_001245304.1  epidermal growth factor receptor substrate 15-like 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK024166, BC131590, BU075732, DC416977
    3. NM_001258376.1NP_001245305.1  epidermal growth factor receptor substrate 15-like 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC020917, AU121887, BC142716, CA446537, DC416977
    4. NM_021235.2NP_067058.1  epidermal growth factor receptor substrate 15-like 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF110265, AU121887, BU075732, DC416977
      Consensus CDS
      CCDS32944.1
      UniProtKB/Swiss-Prot
      Q9UBC2
      Related
      ENSP00000248070, ENST00000248070
      Conserved Domains (4) summary
      cd00052
      Location:131196
      Blast Score: 218
      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 ...
      cd00176
      Location:385572
      Blast Score: 118
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      smart00027
      Location:268364
      Blast Score: 318
      EH; Eps15 homology domain
      pfam13870
      Location:384563
      Blast Score: 100
      DUF4201; Domain of unknown function (DUF4201)

    RNA

    1. NR_047665.1 RNA Sequence

      Description
      Transcript Variant: This variant (5) lacks an internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AU121887, BC051873, CA311813, DC416977
    2. NR_047666.1 RNA Sequence

      Description
      Transcript Variant: This variant (6) uses an alternate splice site and differs in the 3' terminus, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK297428, AU121887, BU075732, DC416977

    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_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      16472408..16582762, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      16041435..16122050, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC008764.9 (11483..19191) None
    genomic AC020917.4 (48442..151087) None
    genomic CH471106.1 EAW84542.1
      EAW84543.1
      EAW84544.1
      EAW84545.1
    mRNA AB015346.1 BAA88118.1
    mRNA AF110265.1 AAF21930.1
    mRNA AK023744.1 None
    mRNA AK024166.1 BAG51266.1
    mRNA AK025770.1 None
    mRNA AK291359.1 BAF84048.1
    mRNA AK296473.1 BAG59115.1
    mRNA AK297428.1 BAG59856.1
    mRNA AK299001.1 BAG61087.1
    mRNA AL110270.1 CAH10724.1
    mRNA BC037558.1 None
    mRNA BC051873.1 None
    mRNA BC067114.1 None
    mRNA BC131590.1 AAI31591.1
    mRNA BC142662.1 AAI42663.1
    mRNA BC142716.1 AAI42717.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q69YZ4 GenPept UniProtKB/TrEMBL:Q69YZ4
    Q9UBC2.1 GenPept UniProtKB/Swiss-Prot:Q9UBC2

      Supplemental Content

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