Human Gene EPN1 (uc002qlx.3)
  Description: Homo sapiens epsin 1 (EPN1), transcript variant 1, mRNA.
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].
Transcript (Including UTRs)
   Position: hg19 chr19:56,187,991-56,207,133 Size: 19,143 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr19:56,188,538-56,206,722 Size: 18,185 Coding Exon Count: 11 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:56,187,991-56,207,133)mRNA (may differ from genome)Protein (662 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  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           more ... click here to view the complete list

+  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 -147.71547-0.270 Picture PostScript Text
3' UTR -175.01411-0.426 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
  Pfam Domains:
PF01417 - ENTH domain
PF02809 - Ubiquitin interaction motif
PF07651 - ANTH domain

SCOP Domains:
48464 - ENTH/VHS domain

ModBase Predicted Comparative 3D Structure on Q9Y6I3-1
FrontTopSide
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 orthologGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGD FlyBase  
 Protein Sequence Protein Sequence  
 Alignment Alignment  

-  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.
LF371799 - JP 2014500723-A/179302: Polycomb-Associated Non-Coding RNAs.
MA607376 - JP 2018138019-A/179302: Polycomb-Associated Non-Coding RNAs.

-  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: NM_001130071, NP_001123543, Q9Y6I3-1
UCSC ID: uc002qlx.3
RefSeq Accession: NM_001130071
Protein: Q9Y6I3-1, splice isoform of Q9Y6I3 CCDS: CCDS46198.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001130071.1
exon count: 11CDS single in 3' UTR: no RNA size: 2964
ORF size: 1989CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3726.50frame shift in genome: no % Coverage: 99.43
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.