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] See more...

Aliases for EPN1 Gene

Aliases for EPN1 Gene

  • Epsin 1 2 3 5
  • EH Domain-Binding Mitotic Phosphoprotein 3 4
  • EPS-15-Interacting Protein 1 3 4
  • Epsin-1 3 4
  • EPN1 5

External Ids for EPN1 Gene

Previous GeneCards Identifiers for EPN1 Gene

  • GC19P057065
  • GC19P056640
  • GC19P060862
  • GC19P060878
  • GC19P056186
  • GC19P052497
  • GC19P055677
  • GC19P055814

Summaries for EPN1 Gene

Entrez Gene Summary for EPN1 Gene

  • 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]

GeneCards Summary for EPN1 Gene

EPN1 (Epsin 1) is a Protein Coding gene. Diseases associated with EPN1 include Erythrocytosis, Familial, 1 and Hypercholesterolemia, Familial, 4. Among its related pathways are Endocytic Trafficking of EGFR and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include transcription factor binding and phospholipid binding. An important paralog of this gene is EPN2.

UniProtKB/Swiss-Prot Summary for EPN1 Gene

  • Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis.

Gene Wiki entry for EPN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPN1 Gene

Genomics for EPN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EPN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPN1

Top Transcription factor binding sites by QIAGEN in the EPN1 gene promoter:
  • AP-1
  • ATF-2
  • c-Ets-1
  • c-Jun
  • c-Myc
  • NF-kappaB1

Genomic Locations for EPN1 Gene

Latest Assembly
chr19:55,675,226-55,709,858
(GRCh38/hg38)
Size:
34,633 bases
Orientation:
Plus strand

Previous Assembly
chr19:56,186,592-56,220,899
(GRCh37/hg19 by Entrez Gene)
Size:
34,308 bases
Orientation:
Plus strand

chr19:56,186,592-56,221,224
(GRCh37/hg19 by Ensembl)
Size:
34,633 bases
Orientation:
Plus strand

Genomic View for EPN1 Gene

Genes around EPN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPN1 Gene

Proteins for EPN1 Gene

  • Protein details for EPN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6I3-EPN1_HUMAN
    Recommended name:
    Epsin-1
    Protein Accession:
    Q9Y6I3
    Secondary Accessions:
    • Q86ST3
    • Q9HA18

    Protein attributes for EPN1 Gene

    Size:
    576 amino acids
    Molecular mass:
    60293 Da
    Quaternary structure:
    • Monomer. Binds clathrin, ZBTB16/ZNF145 and ITSN1 (By similarity). Binds ubiquitinated proteins (By similarity). Binds REPS2, EPS15, AP2A1 and AP2A2. Interacts with RALBP1 in a complex also containing NUMB and TFAP2A during interphase and mitosis. Interacts with AP2B1. Interacts with UBQLN2.
    Miscellaneous:
    • [Isoform 3]: May be due to a competing donor splice site.

    Three dimensional structures from OCA and Proteopedia for EPN1 Gene

    Alternative splice isoforms for EPN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPN1 Gene

Post-translational modifications for EPN1 Gene

  • Phosphorylated on serine and/or threonine residues in mitotic cells. Phosphorylation reduces interaction with REPS2, AP-2 and the membrane fraction. Depolarization of synaptosomes results in dephosphorylation.
  • Ubiquitinated.
  • Ubiquitination at Lys11, Lys86, Lys97, Lys107, Lys117, Lys128, and Lys469
  • Modification sites at PhosphoSitePlus

Other Protein References for EPN1 Gene

No data available for DME Specific Peptides for EPN1 Gene

Domains & Families for EPN1 Gene

Gene Families for EPN1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EPN1 Gene

InterPro:
Blocks:
  • Epsin N-terminal homology
  • Ubiquitin interacting motif
  • Epsin-like, N-terminal

Suggested Antigen Peptide Sequences for EPN1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55368, highly similar to Epsin-1 (B4DU91_HUMAN)
  • EPS-15-interacting protein 1 (EPN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6I3

UniProtKB/Swiss-Prot:

EPN1_HUMAN :
  • The NPF repeat domain is involved in EPS15 binding.
  • Belongs to the epsin family.
Domain:
  • The NPF repeat domain is involved in EPS15 binding.
  • The DPW repeat domain is involved in AP2A2 and clathrin binding.
  • The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction with the AP-2 complex subunit AP2B1.
Family:
  • Belongs to the epsin family.
genes like me logo Genes that share domains with EPN1: view

Function for EPN1 Gene

Molecular function for EPN1 Gene

UniProtKB/Swiss-Prot Function:
Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis.

Phenotypes From GWAS Catalog for EPN1 Gene

Gene Ontology (GO) - Molecular Function for EPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18199683
GO:0005543 phospholipid binding IBA 21873635
GO:0008289 lipid binding IEA --
GO:0030276 clathrin binding IBA 21873635
genes like me logo Genes that share ontologies with EPN1: view
genes like me logo Genes that share phenotypes with EPN1: view

Animal Models for EPN1 Gene

MGI Knock Outs for EPN1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPN1 Gene

Localization for EPN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPN1 Gene

Cytoplasm. Cell membrane. Peripheral membrane protein. Nucleus. Membrane, clathrin-coated pit. Note=Associated with the cytoplasmic membrane at sites where clathrin-coated pits are forming. Colocalizes with clathrin and AP-2 in a punctate pattern on the plasma membrane. Detected in presynaptic nerve terminals and in Golgi stacks. May shuttle to the nucleus when associated with ZBTB16/ZNF145 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPN1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 4
endosome 4
extracellular 2
cytoskeleton 2
lysosome 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IBA 21873635
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with EPN1: view

Pathways & Interactions for EPN1 Gene

PathCards logo

SuperPathways for EPN1 Gene

SuperPathway Contained pathways
1 Sertoli-Sertoli Cell Junction Dynamics
.38
.38
2 Clathrin-mediated endocytosis
3 Vesicle-mediated transport
4 Delta508-CFTR traffic / ER-to-Golgi in CF
.32
.31
5 Endocytosis
genes like me logo Genes that share pathways with EPN1: view

Pathways by source for EPN1 Gene

2 GeneGo (Thomson Reuters) pathways for EPN1 Gene
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
4 Qiagen pathways for EPN1 Gene
  • Endocytic Trafficking of EGFR
  • Epithelial Adherens Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Sertoli-Sertoli Cell Junction Dynamics

SIGNOR curated interactions for EPN1 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for EPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis TAS,IBA 21873635
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway TAS --
GO:0061024 membrane organization TAS --
GO:1903671 negative regulation of sprouting angiogenesis IGI 28717225
genes like me logo Genes that share ontologies with EPN1: view

Drugs & Compounds for EPN1 Gene

(2) Drugs for EPN1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1,4-Dioxane Experimental Pharma Target 0
myo-Inositol 1,4,5-trisphosphate Experimental Pharma Target 0
genes like me logo Genes that share compounds with EPN1: view

Transcripts for EPN1 Gene

mRNA/cDNA for EPN1 Gene

4 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPN1

Alternative Splicing Database (ASD) splice patterns (SP) for EPN1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4:
SP5:
SP6: -
SP7: - - -
SP8:

Relevant External Links for EPN1 Gene

GeneLoc Exon Structure for
EPN1

Expression for EPN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPN1 Gene

This gene is overexpressed in Brain (14.9), Frontal cortex (9.9), and Bone marrow stromal cell (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPN1 Gene



Protein tissue co-expression partners for EPN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPN1

SOURCE GeneReport for Unigene cluster for EPN1 Gene:

Hs.279953

Evidence on tissue expression from TISSUES for EPN1 Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Blood(4.3)
  • Muscle(2.6)
  • Stomach(2.4)
  • Kidney(2.3)
  • Skin(2.3)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with EPN1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPN1 Gene

Orthologs for EPN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EPN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EPN1 29 30
  • 99.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EPN1 29 30
  • 88.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EPN1 29 30
  • 87.79 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Epn1 29 16 30
  • 87.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Epn1 29
  • 87.07 (n)
Oppossum
(Monodelphis domestica)
Mammalia EPN1 30
  • 83 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EPN1 30
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia epn2 29
  • 69.56 (n)
Str.711 29
African clawed frog
(Xenopus laevis)
Amphibia LOC398106 29
Zebrafish
(Danio rerio)
Actinopterygii epn1 30
  • 51 (a)
OneToOne
wufd51f09 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007396 29
  • 55.43 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta lqf 29 30
  • 54.15 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea epn-1 30
  • 40 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENT3 30
  • 25 (a)
OneToMany
ENT1 32
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
OneToMany
Species where no ortholog for EPN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EPN1 Gene

ENSEMBL:
Gene Tree for EPN1 (if available)
TreeFam:
Gene Tree for EPN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPN1: view image
Alliance of Genome Resources:
Additional Orthologs for EPN1

Paralogs for EPN1 Gene

Paralogs for EPN1 Gene

(2) SIMAP similar genes for EPN1 Gene using alignment to 2 proteins:

  • EPN1_HUMAN
  • K7EMP4_HUMAN
genes like me logo Genes that share paralogs with EPN1: view

Variants for EPN1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EPN1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EPN1 Gene

Variant ID Type Subtype PubMed ID
nsv1061024 CNV gain 25217958
nsv2554 CNV insertion 18451855
nsv522559 CNV loss 19592680
nsv833882 CNV loss 17160897
nsv953625 CNV deletion 24416366

Variation tolerance for EPN1 Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPN1
Leiden Open Variation Database (LOVD)
EPN1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPN1 Gene

Disorders for EPN1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EPN1 Gene - From: COP

Disorder Aliases PubMed IDs
erythrocytosis, familial, 1
  • ecyt1
hypercholesterolemia, familial, 4
  • fhcl4
- elite association - COSMIC cancer census association via MalaCards
Search EPN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPN1

genes like me logo Genes that share disorders with EPN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPN1 Gene

Publications for EPN1 Gene

  1. Solution structure of the epsin N-terminal homology (ENTH) domain of human epsin. (PMID: 12836669) Koshiba S … Yokoyama S (Journal of structural and functional genomics 2002) 3 4 22
  2. Epsin binds to the EH domain of POB1 and regulates receptor-mediated endocytosis. (PMID: 10557078) Morinaka K … Kikuchi A (Oncogene 1999) 2 3 4
  3. Epsin 1 is involved in recruitment of ubiquitinated EGF receptors into clathrin-coated pits. (PMID: 19054389) Kazazic M … Madshus IH (Traffic (Copenhagen, Denmark) 2009) 3 22
  4. Occludin phosphorylation and ubiquitination regulate tight junction trafficking and vascular endothelial growth factor-induced permeability. (PMID: 19478092) Murakami T … Antonetti DA (The Journal of biological chemistry 2009) 3 22
  5. The ubiquitin-like protein PLIC-2 is a negative regulator of G protein-coupled receptor endocytosis. (PMID: 18199683) N'Diaye EN … Brown EJ (Molecular biology of the cell 2008) 3 4

Products for EPN1 Gene

Sources for EPN1 Gene