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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

External Ids for EPN1 Gene

Previous GeneCards Identifiers for EPN1 Gene

  • GC19P057065
  • GC19P056640
  • GC19P060862
  • GC19P060878
  • GC19P056186
  • GC19P052497

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, Somatic. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Notch signaling pathway (KEGG). GO annotations related to this gene include transcription factor binding and phospholipid binding. An important paralog of this gene is EPN2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for EPN1 Gene

Genomics for EPN1 Gene

Regulatory Elements for EPN1 Gene

Enhancers for EPN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G055652 1.4 ENCODE dbSUPER 9.7 -18.2 -18190 8.0 CREB3L1 MLX AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF580 U2AF2 NAT14 ENSG00000269696 ZNF582-AS1 FIZ1 ZNF667 ZNF470 ZNF667-AS1 ZFP28
GH19G055671 1.4 ENCODE dbSUPER 8.9 +1.3 1308 10.0 HDGF PKNOX1 ARNT CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF471 ZNF583 ZNF470 ZNF582-AS1 ENSG00000269696 ZNF542P ZNF667-AS1 ENSG00000267224 ZFP28 ZNF667
GH19G055337 1.8 FANTOM5 ENCODE dbSUPER 2 -335.4 -335368 4.0 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC LENG8-AS1 ENSG00000235681 U2AF2 FAM71E2 KMT5C PPP6R1 ZNF628 TMEM238 IL11 TMEM190
GH19G056104 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.9 +434.8 434796 10.7 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 GLIS2 ZNF865 EPN1 ENSG00000223060 ZNF787
GH19G055275 1.2 FANTOM5 Ensembl ENCODE 2.3 -398.4 -398379 2.2 MTA2 BHLHE40 SIN3A CEBPB DPF2 ZNF623 TBX21 ARID3A NFYB SPI1 HSPBP1 KIR3DL2 KIR2DS4 ZNF628 NCR1 EPN1 PPP6R1 KMT5C KIR3DL1 GC19M055263
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPN1 on UCSC Golden Path with GeneCards custom track

Promoters for EPN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000111702 305 1801 PKNOX1 ARNT CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF766

Genomic Location for EPN1 Gene

Chromosome:
19
Start:
55,675,195 bp from pter
End:
55,709,858 bp from pter
Size:
34,664 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.

    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 isoforms=2, 3122, isoforms=2, 3197, isoforms=2, 3208, isoforms=2, 3218, Lys228, and isoforms=2, 3239
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EPN1 Gene

Domains & Families for EPN1 Gene

Suggested Antigen Peptide Sequences for EPN1 Gene

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

No data available for Gene Families for EPN1 Gene

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.

Gene Ontology (GO) - Molecular Function for EPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18199683
GO:0008289 lipid binding IEA --
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:

Animal Model Products

Inhibitory RNA Products

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
plasma membrane 5
cytosol 5
nucleus 4
extracellular 1
lysosome 1
endosome 1

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:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005905 clathrin-coated pit IEA --
genes like me logo Genes that share ontologies with EPN1: view

Pathways & Interactions for EPN1 Gene

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

SIGNOR curated interactions for EPN1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for EPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006897 endocytosis IEA,TAS --
GO:0007219 Notch signaling pathway IEA --
GO:0007565 female pregnancy IEA --
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway TAS --
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-Diethylene Dioxide Experimental Pharma Target 0
D-Myo-Inositol-1,4,5-Triphosphate Experimental Pharma Target 0
genes like me logo Genes that share compounds with EPN1: view

Transcripts for EPN1 Gene

Unigene Clusters for EPN1 Gene

Epsin 1:
Representative Sequences:

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
EPN1

Expression for EPN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for EPN1 Gene



Protein tissue co-expression partners for EPN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPN1 Gene:

EPN1

SOURCE GeneReport for Unigene cluster for EPN1 Gene:

Hs.279953

Evidence on tissue expression from TISSUES for EPN1 Gene

  • Nervous system(4.5)
  • Liver(4.4)
  • Blood(4.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with EPN1: view

Primer Products

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 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia EPN1 34 35
  • 88.99 (n)
cow
(Bos Taurus)
Mammalia EPN1 34 35
  • 87.79 (n)
mouse
(Mus musculus)
Mammalia Epn1 34 16 35
  • 87.71 (n)
rat
(Rattus norvegicus)
Mammalia Epn1 34
  • 87.07 (n)
oppossum
(Monodelphis domestica)
Mammalia EPN1 35
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPN1 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epn2 34
  • 69.56 (n)
Str.711 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398106 34
zebrafish
(Danio rerio)
Actinopterygii epn1 35
  • 51 (a)
OneToOne
wufd51f09 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007396 34
  • 55.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta lqf 34 35
  • 54.15 (n)
worm
(Caenorhabditis elegans)
Secernentea epn-1 35
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENT3 35
  • 25 (a)
OneToMany
ENT1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
Species where no ortholog for EPN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for EPN1 Gene

Paralogs for EPN1 Gene

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

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

Variants for EPN1 Gene

Sequence variations from dbSNP and Humsavar for EPN1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000316040 -- 55,681,827(+) TTTAG(A/G)GACAA intron-variant
rs1000386636 -- 55,674,841(+) CTCGA(A/G)GCCTT downstream-variant-500B, upstream-variant-2KB
rs1000605800 -- 55,691,032(+) GACTG(C/G)AGATG intron-variant
rs1000618920 -- 55,691,195(+) GGGCA(A/G)TGGGC intron-variant
rs1000729814 -- 55,673,982(+) TGCAG(C/G)GCCTG upstream-variant-2KB, reference, missense

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)

Relevant External Links for EPN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPN1 Gene

Disorders for EPN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EPN1 Gene - From: DISEASES

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

Relevant External Links for EPN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Struct. Funct. Genomics 2002) 3 4 22 64
  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 64
  3. Epsin 1 is involved in recruitment of ubiquitinated EGF receptors into clathrin-coated pits. (PMID: 19054389) Kazazic M. … Madshus I.H. (Traffic 2009) 3 22 64
  4. Occludin phosphorylation and ubiquitination regulate tight junction trafficking and vascular endothelial growth factor-induced permeability. (PMID: 19478092) Murakami T. … Antonetti D.A. (J. Biol. Chem. 2009) 3 22 64
  5. The ubiquitin-like protein PLIC-2 is a negative regulator of G protein-coupled receptor endocytosis. (PMID: 18199683) N'Diaye E.N. … Brown E.J. (Mol. Biol. Cell 2008) 3 4 64

Products for EPN1 Gene

Sources for EPN1 Gene

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