Human Gene EPS15L1 (ENST00000455140.7_8) from GENCODE V47lift37
  Description: epidermal growth factor receptor pathway substrate 15 like 1, transcript variant 1 (from RefSeq NM_001258374.3)
Gencode Transcript: ENST00000455140.7_8
Gencode Gene: ENSG00000127527.15_10
Transcript (Including UTRs)
   Position: hg19 chr19:16,466,058-16,582,781 Size: 116,724 Total Exon Count: 24 Strand: -
Coding Region
   Position: hg19 chr19:16,466,516-16,582,756 Size: 116,241 Coding Exon Count: 24 

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 (chr19:16,466,058-16,582,781)mRNA (may differ from genome)Protein (910 aa)
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-  Comments and Description Text from UniProtKB
  ID: EP15R_HUMAN
DESCRIPTION: RecName: Full=Epidermal growth factor receptor substrate 15-like 1; AltName: Full=Eps15-related protein; Short=Eps15R;
FUNCTION: Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2.
SUBUNIT: Interacts with EPS15, AGFG1/HRB and AGFG2/HRBL. Associates with the clathrin-associated adapter protein complex 2 (AP-2) (By similarity). Interacts with FCHO1. Interacts with FCHO2. Interacts (via EH domains) with DAB2.
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein (By similarity). Nucleus (By similarity). Membrane, coated pit (By similarity). Note=Localized to plasma membrane coated pits (By similarity).
PTM: Phosphorylated on tyrosine residues by EGFR (By similarity).
SIMILARITY: Contains 1 EF-hand domain.
SIMILARITY: Contains 3 EH domains.
CAUTION: Studies in clathrin-mediated endocytosis used a siRNA mixture of EPS15 and EPS15L1 (PubMed:22648170).

-  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: EPS15L1
Diseases sorted by gene-association score: split hand-split foot malformation (2), split foot (2)

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.89 RPKM in Muscle - Skeletal
Total median expression: 332.79 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.9025-0.276 Picture PostScript Text
3' UTR -156.80458-0.342 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
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR000261 - EPS15_homology

Pfam Domains:
PF02809 - Ubiquitin interaction motif
PF12763 - Cytoskeletal-regulatory complex EF hand

SCOP Domains:
88946 - Sigma2 domain of RNA polymerase sigma factors
47473 - EF-hand
90257 - Myosin rod fragments
57997 - Tropomyosin

ModBase Predicted Comparative 3D Structure on Q9UBC2
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0045296 cadherin binding
GO:0046872 metal ion binding

Biological Process:
GO:0006897 endocytosis
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway
GO:0061024 membrane organization

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005905 clathrin-coated pit
GO:0016020 membrane
GO:0030132 clathrin coat of coated pit


-  Descriptions from all associated GenBank mRNAs
  BC067114 - Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1, mRNA (cDNA clone IMAGE:5764649), with apparent retained intron.
BC051873 - Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1, mRNA (cDNA clone IMAGE:5768095).
AK296473 - Homo sapiens cDNA FLJ60624 complete cds, highly similar to Epidermal growth factor receptor substrate 15-like 1.
AB527825 - Synthetic construct DNA, clone: pF1KB8556, Homo sapiens EPS15L1 gene for epidermal growth factor receptor pathway substrate 15-like 1, without stop codon, in Flexi system.
AK297428 - Homo sapiens cDNA FLJ56111 complete cds, highly similar to Epidermal growth factor receptor substrate 15-like 1.
AK025770 - Homo sapiens cDNA: FLJ22117 fis, clone HEP18744, highly similar to AB015346 Homo sapiens eps15R mRNA.
AB015346 - Homo sapiens eps15R mRNA, partial cds.
LF384397 - JP 2014500723-A/191900: Polycomb-Associated Non-Coding RNAs.
AK024166 - Homo sapiens cDNA FLJ14104 fis, clone MAMMA1001198, highly similar to Epidermal growth factor receptor substrate 15-like 1.
AK299001 - Homo sapiens cDNA FLJ56132 complete cds, highly similar to Epidermal growth factor receptor substrate 15-like 1.
BC131590 - Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1, mRNA (cDNA clone MGC:149291 IMAGE:40113414), complete cds.
AF110265 - Homo sapiens epidermal growth factor receptor substrate EPS15R mRNA, complete cds.
AK291359 - Homo sapiens cDNA FLJ77869 complete cds.
KJ903023 - Synthetic construct Homo sapiens clone ccsbBroadEn_12417 EPS15L1 gene, encodes complete protein.
AK023744 - Homo sapiens cDNA FLJ13682 fis, clone PLACE2000015, weakly similar to EPIDERMAL GROWTH FACTOR RECEPTOR SUBSTRATE SUBSTRATE 15.
BC037558 - Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1, mRNA (cDNA clone IMAGE:5206394), partial cds.
BC142662 - Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1, mRNA (cDNA clone IMAGE:40148110), partial cds.
BC142716 - Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1, mRNA (cDNA clone MGC:165065 IMAGE:40148851), complete cds.
KJ903024 - Synthetic construct Homo sapiens clone ccsbBroadEn_12418 EPS15L1 gene, encodes complete protein.
MA619974 - JP 2018138019-A/191900: Polycomb-Associated Non-Coding RNAs.
AL110270 - Homo sapiens mRNA; cDNA DKFZp586A0524 (from clone DKFZp586A0524).
LF372791 - JP 2014500723-A/180294: Polycomb-Associated Non-Coding RNAs.
LF372800 - JP 2014500723-A/180303: Polycomb-Associated Non-Coding RNAs.
LF372803 - JP 2014500723-A/180306: Polycomb-Associated Non-Coding RNAs.
LF372804 - JP 2014500723-A/180307: Polycomb-Associated Non-Coding RNAs.
MA608368 - JP 2018138019-A/180294: Polycomb-Associated Non-Coding RNAs.
MA608377 - JP 2018138019-A/180303: Polycomb-Associated Non-Coding RNAs.
MA608380 - JP 2018138019-A/180306: Polycomb-Associated Non-Coding RNAs.
MA608381 - JP 2018138019-A/180307: Polycomb-Associated Non-Coding RNAs.
LF372814 - JP 2014500723-A/180317: Polycomb-Associated Non-Coding RNAs.
LF372816 - JP 2014500723-A/180319: Polycomb-Associated Non-Coding RNAs.
LF372822 - JP 2014500723-A/180325: Polycomb-Associated Non-Coding RNAs.
LF372825 - JP 2014500723-A/180328: Polycomb-Associated Non-Coding RNAs.
LF372827 - JP 2014500723-A/180330: Polycomb-Associated Non-Coding RNAs.
MA608391 - JP 2018138019-A/180317: Polycomb-Associated Non-Coding RNAs.
MA608393 - JP 2018138019-A/180319: Polycomb-Associated Non-Coding RNAs.
MA608399 - JP 2018138019-A/180325: Polycomb-Associated Non-Coding RNAs.
MA608402 - JP 2018138019-A/180328: Polycomb-Associated Non-Coding RNAs.
MA608404 - JP 2018138019-A/180330: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UBC2 (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-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: A2RRF3, A5PL29, B4DKA3, ENST00000455140.1, ENST00000455140.2, ENST00000455140.3, ENST00000455140.4, ENST00000455140.5, ENST00000455140.6, EP15R_HUMAN, EPS15R, NM_001258374, Q9UBC2, uc320wfv.1, uc320wfv.2
UCSC ID: ENST00000455140.7_8
RefSeq Accession: NM_001258374.3
Protein: Q9UBC2 (aka EP15R_HUMAN or E15R_HUMAN)

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