Human Gene EPN1 (ENST00000411543.6) from GENCODE V44
  Description: Homo sapiens epsin 1 (EPN1), transcript variant 1, mRNA. (from RefSeq NM_001130071)
RefSeq Summary (NM_001130071): 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].
Gencode Transcript: ENST00000411543.6
Gencode Gene: ENSG00000063245.15
Transcript (Including UTRs)
   Position: hg38 chr19:55,676,625-55,695,441 Size: 18,817 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr19:55,677,172-55,695,356 Size: 18,185 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:55,676,625-55,695,441)mRNA (may differ from genome)Protein (662 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid 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
 

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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           more ... click here to view the complete list

-  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 -139.00547-0.254 Picture PostScript Text
3' UTR -35.4085-0.416 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

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


ModBase Predicted Comparative 3D Structure on Q9Y6I3
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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.
JD360706 - Sequence 341730 from Patent EP1572962.
JD453537 - Sequence 434561 from Patent EP1572962.
JD507829 - Sequence 488853 from Patent EP1572962.
JD403297 - Sequence 384321 from Patent EP1572962.
JD541534 - Sequence 522558 from Patent EP1572962.
JD090883 - Sequence 71907 from Patent EP1572962.
JD556840 - Sequence 537864 from Patent EP1572962.
JD501709 - Sequence 482733 from Patent EP1572962.
JD283791 - Sequence 264815 from Patent EP1572962.
JD548287 - Sequence 529311 from Patent EP1572962.
JD260796 - Sequence 241820 from Patent EP1572962.
JD132831 - Sequence 113855 from Patent EP1572962.
JD525726 - Sequence 506750 from Patent EP1572962.
JD525589 - Sequence 506613 from Patent EP1572962.
JD543608 - Sequence 524632 from Patent EP1572962.
JD479909 - Sequence 460933 from Patent EP1572962.
JD099857 - Sequence 80881 from Patent EP1572962.
JD274585 - Sequence 255609 from Patent EP1572962.
JD050501 - Sequence 31525 from Patent EP1572962.
JD068693 - Sequence 49717 from Patent EP1572962.
JD552249 - Sequence 533273 from Patent EP1572962.
JD403351 - Sequence 384375 from Patent EP1572962.
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.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis

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: ENST00000411543.1, ENST00000411543.2, ENST00000411543.3, ENST00000411543.4, ENST00000411543.5, EPN1_HUMAN, NM_001130071, Q86ST3, Q9HA18, Q9Y6I3, uc002qlx.1, uc002qlx.2, uc002qlx.3, uc002qlx.4
UCSC ID: ENST00000411543.6
RefSeq Accession: NM_001130071
Protein: Q9Y6I3 (aka EPN1_HUMAN)
CCDS: CCDS46198.1

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