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    EPN1 epsin 1 [ Homo sapiens ]

    Gene ID: 29924, updated on 12-May-2012

    Summary

    Official Symbol
    EPN1provided by HGNC
    Official Full Name
    epsin 1provided by HGNC
    Primary source
    HGNC:21604
    See related
    Ensembl:ENSG00000063245; HPRD:06270; MIM:607262
    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
    Summary
    The protein encoded by this gene binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

    Genomic context

    Location :
    19q13.42
    Sequence :
    Chromosome: 19; NC_000019.9 (56186561..56207133)
    See EPN1 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 106 Neighboring gene U2 small nuclear RNA auxiliary factor 2 Neighboring gene vomeronasal 1 receptor 106 pseudogene Neighboring gene NLR family, pyrin domain containing 9

    Genomic regions, transcripts, and products

    Bibliography

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9Y6I3 O95782 AP2A1    HPRD  PubMed  
    Q9Y6I3 O94973 AP2A2    HPRD  PubMed  
    Q9Y6I3 P06493 CDK1    HPRD  PubMed  
    Q9Y6I3 Q00610 CLTC    HPRD  PubMed  
    Q9Y6I3 Q14194 CRMP1    HPRD  PubMed  
    Q9Y6I3 P42566 EPS15    HPRD  PubMed  
    Q9Y6I3 Q9UBC2 EPS15L1    HPRD  PubMed  
    Q9Y6I3 Q9P2H0 KIAA1377    HPRD  PubMed  
    Q9Y6I3 Q13571 LAPTM5    HPRD  PubMed  
    Q9Y6I3 Q9Y3C7 MED31    HPRD  PubMed  
    Q9Y6I3 Q8NFH8 REPS2    HPRD  PubMed  
    Q9Y6I3 Q9Y3C5 RNF11    HPRD  PubMed  
    Q9Y6I3 Q05516 ZBTB16    HPRD  PubMed  
    BioGRID:118965 BioGRID:115364 AP1M2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:118965 BioGRID:106670 AP2A2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:118965 BioGRID:107623 CLTC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:118965 BioGRID:107790 CRMP1    BioGRID  PubMed Two-hybrid 
    BioGRID:118965 BioGRID:108276 EGFR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:118965 BioGRID:108374 EPS15    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:118965 BioGRID:121840 EPS15L1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:118965 BioGRID:109226 GTF3A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:118965 BioGRID:121617 KIAA1377    BioGRID  PubMed Two-hybrid 
    BioGRID:118965 BioGRID:119211 MED31    BioGRID  PubMed Two-hybrid 
    BioGRID:118965 BioGRID:111004 OCLN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:118965 BioGRID:111683 PSMD4    BioGRID  PubMed Biochemical Activity 
    BioGRID:118965 BioGRID:116131 RALBP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:118965 BioGRID:114622 REPS2    BioGRID  PubMed Affinity Capture-Western; Far Western; Reconstituted Complex 
    BioGRID:118965 BioGRID:112241 SCNN1A    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:118965 BioGRID:112242 SCNN1B    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:118965 BioGRID:112244 SCNN1G    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:118965 BioGRID:112422 SLC6A3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:118965 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 

    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
    • 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
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor 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
     
    cytoplasm 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
    epsin-1
    Names
    epsin-1
    EPS-15-interacting protein 1
    EH domain-binding mitotic phosphoprotein

    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_001130071.1NP_001123543.1  epsin-1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF073727, BC044651, BU634413
      Consensus CDS
      CCDS46198.1
      UniProtKB/Swiss-Prot
      Q9Y6I3
      Related
      ENSP00000406209, ENST00000411543
      Conserved Domains (1) summary
      cd03571
      Location:130243
      Blast Score: 541
      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 ...
    2. NM_001130072.1NP_001123544.1  epsin-1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and includes an additional internal exon, compared to variant 1. The resulting isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AK022454, BC044651, BU634413, DA657018
      Consensus CDS
      CCDS46199.1
      UniProtKB/Swiss-Prot
      Q9Y6I3
      Related
      ENSP00000270460, ENST00000270460
      Conserved Domains (1) summary
      cd03571
      Location:19132
      Blast Score: 533
      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 ...
    3. NM_013333.3NP_037465.2  epsin-1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (c) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      BC044651, BU634413, DA657018
      Consensus CDS
      CCDS46200.1
      UniProtKB/Swiss-Prot
      Q9Y6I3
      Related
      ENSP00000085079, ENST00000085079
      Conserved Domains (1) summary
      cd03571
      Location:19132
      Blast Score: 533
      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 ...

    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
      56186561..56207133
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      52497593..52517630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC008735.9 None
    genomic AC010525.6 (5628..25047) None
    genomic CH471135.1 EAW72405.1
      EAW72406.1
      EAW72407.1
      EAW72408.1
    mRNA AF073727.1 AAD38326.1
    mRNA AK022454.1 BAB14041.1
    mRNA AK300545.1 BAG62253.1
    mRNA AK314690.1 None
    mRNA BC044651.1 AAH44651.1
    mRNA BU634413.1 None
    mRNA DA657018.1 None
    other-genetic HQ257921.1 ADR82675.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6I3.2 GenPept UniProtKB/Swiss-Prot:Q9Y6I3

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