Human Gene EPN1 (ENST00000270460.11_9) from GENCODE V47lift37
  Description: epsin 1, transcript variant 4 (from RefSeq NM_001321263.2)
Gencode Transcript: ENST00000270460.11_9
Gencode Gene: ENSG00000063245.15_13
Transcript (Including UTRs)
   Position: hg19 chr19:56,186,592-56,220,899 Size: 34,308 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr19:56,189,994-56,206,722 Size: 16,729 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:56,186,592-56,220,899)mRNA (may differ from genome)Protein (576 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EPN1_HUMAN
DESCRIPTION: RecName: Full=Epsin-1; AltName: Full=EH domain-binding mitotic phosphoprotein; AltName: Full=EPS-15-interacting protein 1;
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.
SUBUNIT: Monomer. Binds clathrin, ZBTB16/ZNF145 and ITSN1. 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.
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein (By similarity). Nucleus (By similarity). Membrane, clathrin-coated pit (By similarity). 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).
DOMAIN: The NPF repeat domain is involved in EPS15 binding.
DOMAIN: The DPW repeat domain is involved in AP2A2 and clathrin binding.
DOMAIN: The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction with the AP-2 complex subunit AP2B1 (By similarity).
PTM: 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.
PTM: Ubiquitinated (By similarity).
SIMILARITY: Belongs to the epsin family.
SIMILARITY: Contains 1 ENTH (epsin N-terminal homology) domain.
SIMILARITY: Contains 3 UIM (ubiquitin-interacting motif) repeats.
WEB RESOURCE: Name=Protein Spotlight; Note=The bubble's bend - Issue 42 of January 2004; URL="http://web.expasy.org/spotlight/back_issues/sptlt042.shtml";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EPN1
Diseases sorted by gene-association score: erythrocytosis, somatic (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 93.30 RPKM in Stomach
Total median expression: 2203.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -163.10311-0.524 Picture PostScript Text
3' UTR -5934.5014177-0.419 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008942 - ENTH_VHS
IPR013809 - Epsin-like_N
IPR001026 - Epsin_dom_N
IPR003903 - Ubiquitin-int_motif

Pfam Domains:
PF01417 - ENTH domain
PF02809 - Ubiquitin interaction motif
PF07651 - ANTH domain

SCOP Domains:
48464 - ENTH/VHS domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1INZ - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y6I3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding

Biological Process:
GO:0001701 in utero embryonic development
GO:0006897 endocytosis
GO:0007219 Notch signaling pathway
GO:0007565 female pregnancy
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway
GO:0048568 embryonic organ development
GO:0061024 membrane organization
GO:1903671 negative regulation of sprouting angiogenesis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005905 clathrin-coated pit
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK300545 - Homo sapiens cDNA FLJ55368 complete cds, highly similar to Epsin-1.
AK314690 - Homo sapiens cDNA, FLJ95542.
AK022454 - Homo sapiens cDNA FLJ12392 fis, clone MAMMA1002699, highly similar to Rattus norvegicus EH domain binding protein Epsin mRNA.
BC044651 - Homo sapiens epsin 1, mRNA (cDNA clone MGC:40313 IMAGE:5244118), complete cds.
AF073727 - Homo sapiens EH domain-binding mitotic phosphoprotein (EPSIN) mRNA, complete cds.
JD354481 - Sequence 335505 from Patent EP1572962.
JD538300 - Sequence 519324 from Patent EP1572962.
AB527530 - Synthetic construct DNA, clone: pF1KB5960, Homo sapiens EPN1 gene for epsin 1, without stop codon, in Flexi system.
HQ257921 - Synthetic construct Homo sapiens clone IMAGE:100072230 epsin 1 (EPN1), transcript variant 3 (EPN1) gene, encodes complete protein.
KJ893711 - Synthetic construct Homo sapiens clone ccsbBroadEn_03105 EPN1 gene, encodes complete protein.
DQ575570 - Homo sapiens piRNA piR-43682, complete sequence.
JD464190 - Sequence 445214 from Patent EP1572962.
LF371799 - JP 2014500723-A/179302: Polycomb-Associated Non-Coding RNAs.
JD116802 - Sequence 97826 from Patent EP1572962.
JD154286 - Sequence 135310 from Patent EP1572962.
JD214863 - Sequence 195887 from Patent EP1572962.
JD319857 - Sequence 300881 from Patent EP1572962.
AY203961 - Homo sapiens LP8151 mRNA, complete cds.
JD142713 - Sequence 123737 from Patent EP1572962.
JD557574 - Sequence 538598 from Patent EP1572962.
JD435157 - Sequence 416181 from Patent EP1572962.
JD119352 - Sequence 100376 from Patent EP1572962.
JD414872 - Sequence 395896 from Patent EP1572962.
JD221152 - Sequence 202176 from Patent EP1572962.
JD243161 - Sequence 224185 from Patent EP1572962.
JD238303 - Sequence 219327 from Patent EP1572962.
JD394147 - Sequence 375171 from Patent EP1572962.
JD347483 - Sequence 328507 from Patent EP1572962.
AF333762 - Homo sapiens FKSG41 (FKSG41) mRNA, complete cds.
JD267639 - Sequence 248663 from Patent EP1572962.
JD524946 - Sequence 505970 from Patent EP1572962.
JD318742 - Sequence 299766 from Patent EP1572962.
JD505735 - Sequence 486759 from Patent EP1572962.
JD107503 - Sequence 88527 from Patent EP1572962.
JD325221 - Sequence 306245 from Patent EP1572962.
MA607376 - JP 2018138019-A/179302: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ndkDynaminPathway - Endocytotic role of NDK, Phosphins and Dynamin

Reactome (by CSHL, EBI, and GO)

Protein Q9Y6I3 (Reactome details) participates in the following event(s):

R-HSA-183072 EGFR non-clathrin mediated endocytosis
R-HSA-8867044 EGFR binds EPS15, EPN1, EPS15L1
R-HSA-182986 CBL-mediated ubiquitination of CIN85
R-HSA-182990 Sprouty sequesters CBL away from active EGFR
R-HSA-8867041 EGFR phosphorylates EPS15
R-HSA-8867047 PTPN3 dephosphorylates EPS15
R-HSA-8866275 UBQLNs bind UIM-containing adaptor proteins
R-HSA-8866279 Epsin family proteins bind ubiquitinated cargo
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-182971 EGFR downregulation
R-HSA-177929 Signaling by EGFR
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-162582 Signal Transduction
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000270460.1, ENST00000270460.10, ENST00000270460.2, ENST00000270460.3, ENST00000270460.4, ENST00000270460.5, ENST00000270460.6, ENST00000270460.7, ENST00000270460.8, ENST00000270460.9, EPN1_HUMAN, NM_001321263, Q86ST3, Q9HA18, Q9Y6I3, uc317iue.1, uc317iue.2
UCSC ID: ENST00000270460.11_9
RefSeq Accession: NM_001130072.2
Protein: Q9Y6I3 (aka EPN1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.