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Aliases for EPN1 Gene

Aliases for EPN1 Gene

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

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. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Signaling by GPCR. GO annotations related to this gene include transcription factor binding and phospholipid binding. An important paralog of this gene is EPN3.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPN1 Gene

Genomics for EPN1 Gene

Regulatory Elements for EPN1 Gene

Promoters for EPN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPN1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for EPN1 Gene at MOPED

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 Lys 122, Lys 197, Lys 208, Lys 218, Lys 228, and Lys 239
  • Modification sites at PhosphoSitePlus

Other Protein References for EPN1 Gene

Antibody Products

No data available for DME Specific Peptides for EPN1 Gene

Domains & Families for EPN1 Gene

Protein Domains 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.
  • Contains 1 ENTH (epsin N-terminal homology) domain.
  • Contains 3 UIM (ubiquitin-interacting motif) domains.
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
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

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
Jensen Localization Image for EPN1 Gene COMPARTMENTS Subcellular localization image for EPN1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 4
endosome 1
extracellular 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for EPN1 Gene

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:0007173 epidermal growth factor receptor signaling pathway TAS --
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:

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 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, MOPED, and MaxQB for EPN1 Gene



SOURCE GeneReport for Unigene cluster for EPN1 Gene Hs.279953

genes like me logo Genes that share expression patterns with EPN1: view

Protein tissue co-expression partners for EPN1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 36
  • 99 (a)
OneToOne
EPN1 35
  • 99.27 (n)
  • 99.64 (a)
cow
(Bos Taurus)
Mammalia EPN1 36
  • 89 (a)
OneToOne
EPN1 35
  • 87.79 (n)
  • 93.4 (a)
dog
(Canis familiaris)
Mammalia EPN1 35
  • 88.99 (n)
  • 95.08 (a)
EPN1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epn1 36
  • 91 (a)
OneToOne
Epn1 35
  • 87.71 (n)
  • 94.96 (a)
Epn1 16
oppossum
(Monodelphis domestica)
Mammalia EPN1 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epn1 35
  • 87.07 (n)
  • 94.78 (a)
lizard
(Anolis carolinensis)
Reptilia EPN1 36
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398106 35
tropical clawed frog
(Silurana tropicalis)
Amphibia epn2 35
  • 69.56 (n)
  • 75.05 (a)
Str.711 35
zebrafish
(Danio rerio)
Actinopterygii epn1 36
  • 51 (a)
OneToOne
wufd51f09 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007396 35
  • 55.43 (n)
  • 48.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta lqf 36
  • 29 (a)
OneToMany
lqf 35
  • 54.15 (n)
  • 48.8 (a)
worm
(Caenorhabditis elegans)
Secernentea epn-1 36
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENT3 36
  • 25 (a)
OneToMany
ENT1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for EPN1:
  • 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
rs7249837 -- 55,679,904(+) CCTCT(C/T)TGGAG intron-variant
rs10410404 -- 55,694,271(+) ACAGA(C/T)GTCTT intron-variant
rs10417539 -- 55,682,681(+) accga(C/G)tttag intron-variant
rs10410802 -- 55,690,451(+) CCCAC(A/G)ACCTT intron-variant
rs10647751 -- 55,682,447(+) GAGAA(-/AG)AGTCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4025n71 CNV Loss 21882294
nsv912501 CNV Loss 21882294
nsv833882 CNV Loss 17160897
nsv522559 CNV Loss 19592680
nsv2554 CNV Insertion 18451855

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

HapMap Linkage Disequilibrium report
EPN1

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

Disorders for EPN1 Gene

Relevant External Links for EPN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPN1

No disorders were found for EPN1 Gene.

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

Publications for EPN1 Gene

  1. Epsin binds to the EH domain of POB1 and regulates receptor-mediated endocytosis. (PMID: 10557078) Morinaka K. … Kikuchi A. (Oncogene 1999) 2 3 4 67
  2. 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 23
  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 23
  4. Epsin 1 is a polyubiquitin-selective clathrin-associated sorting protein. (PMID: 16497222) Hawryluk M.J. … Traub L.M. (Traffic 2006) 3 23
  5. Curvature of clathrin-coated pits driven by epsin. (PMID: 12353027) Ford M.G. … McMahon H.T. (Nature 2002) 3 23

Products for EPN1 Gene

Sources for EPN1 Gene

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