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EPN1 epsin 1 [ Homo sapiens (human) ]

Gene ID: 29924, updated on 13-Mar-2020

Summary

Official Symbol
EPN1provided by HGNC
Official Full Name
epsin 1provided by HGNC
Primary source
HGNC:HGNC:21604
See related
Ensembl:ENSG00000063245 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
This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain cancer types. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in duodenum (RPKM 31.4), stomach (RPKM 31.2) and 25 other tissues See more
Orthologs

Genomic context

See EPN1 in Genome Data Viewer
Location:
19q13.42
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (55675195..55709533)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56186561..56207141)

Chromosome 19 - NC_000019.10Genomic 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 Neighboring gene RN7SK pseudogene 109 Neighboring gene uncharacterized LOC105372465

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

NHGRI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide containing the Epsin-1-(470-499) sequence could effectively block entry of HIV-1 virions into SupT1 T cells via the endocytosis pathway PubMed
env Amino acids 470-499 in Epsin-1 are required for its binding to the gp41 core formed by the polypeptide N36(L8)C34 and interact with recombinant soluble gp41 containing the core structure 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
embryonic organ development IEA
Inferred from Electronic Annotation
more info
 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of sprouting angiogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
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
EH domain-binding mitotic phosphoprotein
EPS-15-interacting protein 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_001130071.1NP_001123543.1  epsin-1 isoform a

    See identical proteins and their annotated locations for NP_001123543.1

    Status: REVIEWED

    Source sequence(s)
    AF073727, BC044651, BU634413
    Consensus CDS
    CCDS46198.1
    UniProtKB/Swiss-Prot
    Q9Y6I3
    Related
    ENSP00000406209.1, ENST00000411543.6
    Conserved Domains (3) summary
    cd03571
    Location:130252
    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 ...
    pfam04871
    Location:235347
    Uso1_p115_C; Uso1 / p115 like vesicle tethering protein, C terminal region
    cl00427
    Location:378413
    TM_PBP2; Transmembrane subunit (TM) found in Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which generally bind type 2 PBPs. These types of transporters consist of a PBP, two TMs, and two cytoplasmic ABC ATPase subunits, and ...
  2. NM_001130072.2NP_001123544.1  epsin-1 isoform b

    See identical proteins and their annotated locations for NP_001123544.1

    Status: REVIEWED

    Source sequence(s)
    AC008735, AC008749, AC010525
    Consensus CDS
    CCDS46199.1
    UniProtKB/Swiss-Prot
    Q9Y6I3
    UniProtKB/TrEMBL
    A0A024R4S1
    Related
    ENSP00000270460.5, ENST00000270460.10
    Conserved Domains (2) summary
    cd03571
    Location:19141
    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 ...
    cl00427
    Location:292327
    TM_PBP2; Transmembrane subunit (TM) found in Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which generally bind type 2 PBPs. These types of transporters consist of a PBP, two TMs, and two cytoplasmic ABC ATPase subunits, and ...
  3. NM_001321263.1NP_001308192.1  epsin-1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC008735, AC010525
    Conserved Domains (2) summary
    cd03571
    Location:19141
    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 ...
    cl00427
    Location:292327
    TM_PBP2; Transmembrane subunit (TM) found in Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which generally bind type 2 PBPs. These types of transporters consist of a PBP, two TMs, and two cytoplasmic ABC ATPase subunits, and ...
  4. NM_013333.3NP_037465.2  epsin-1 isoform c

    See identical proteins and their annotated locations for NP_037465.2

    Status: REVIEWED

    Source sequence(s)
    BC044651, BU634413, DA657018
    Consensus CDS
    CCDS46200.1
    UniProtKB/Swiss-Prot
    Q9Y6I3
    Related
    ENSP00000085079.6, ENST00000085079.11
    Conserved Domains (2) summary
    cd03571
    Location:19141
    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 ...
    cl26386
    Location:240428
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    55675195..55709533
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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