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Aliases for EPS15 Gene

Aliases for EPS15 Gene

  • Epidermal Growth Factor Receptor Pathway Substrate 15 2 3 5
  • Protein AF-1p 3 4
  • AF1P 3 4
  • Epidermal Growth Factor Receptor Substrate 15 3
  • ALL1 Fused Gene From Chromosome 1 3
  • Protein Eps15 4
  • AF-1P 3
  • MLLT5 3

External Ids for EPS15 Gene

Previous GeneCards Identifiers for EPS15 Gene

  • GC01M050709
  • GC01M051179
  • GC01M051190
  • GC01M051532
  • GC01M051819
  • GC01M049937

Summaries for EPS15 Gene

Entrez Gene Summary for EPS15 Gene

  • This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]

GeneCards Summary for EPS15 Gene

EPS15 (Epidermal Growth Factor Receptor Pathway Substrate 15) is a Protein Coding gene. Among its related pathways are Normal wtCFTR traffic / ER-to-Golgi and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is EPS15L1.

UniProtKB/Swiss-Prot for EPS15 Gene

  • Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. 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.

Gene Wiki entry for EPS15 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPS15 Gene

Genomics for EPS15 Gene

Regulatory Elements for EPS15 Gene

Enhancers for EPS15 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around EPS15 on UCSC Golden Path with GeneCards custom track

Promoters for EPS15 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for EPS15 Gene

Chromosome:
1
Start:
51,354,263 bp from pter
End:
51,519,354 bp from pter
Size:
165,092 bases
Orientation:
Minus strand

Genomic View for EPS15 Gene

Genes around EPS15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPS15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPS15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPS15 Gene

Proteins for EPS15 Gene

  • Protein details for EPS15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42566-EPS15_HUMAN
    Recommended name:
    Epidermal growth factor receptor substrate 15
    Protein Accession:
    P42566
    Secondary Accessions:
    • B2R8J7
    • D3DPJ2
    • Q5SRH4

    Protein attributes for EPS15 Gene

    Size:
    896 amino acids
    Molecular mass:
    98656 Da
    Quaternary structure:
    • Interacts with SGIP1 (By similarity). Interacts with HGS; the interaction bridges the interaction of STAM or STAM2 with EPS15. Isoform 2 interacts with HGS and AP2A2. Part of a complex at least composed of EPS15, HGS, and either STAM or STAM2. Binds AP2A2. Interacts with AP2B1; clathrin competes with EPS15. Binds STON2 and EPN1. Interacts (via its SH3-binding sites) with CRK. Interacts with SH3BP4/TTP. Interacts with ERBB2. Interacts with FCHO1. Interacts with FCHO2. Interacts (via EH domains) with DAB2. Interacts (via UIM repeats) with CORO7 (when ubiquitinated at Lys-472). Interacts (via UIM domains) with UBQLN1 (via ubiquitin-like domain) and can interact with both the ubiquitinated and the non-ubiquitinated forms of UBQLN1. Interacts with UBQLN2.

    Three dimensional structures from OCA and Proteopedia for EPS15 Gene

    Alternative splice isoforms for EPS15 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPS15 Gene

Post-translational modifications for EPS15 Gene

  • Phosphorylation on Tyr-849 is involved in the internalization of EGFR. Not required for membrane translocation after EGF treatment or for targeting to coated pits, but essential for a subsequent step in EGFR endocytosis (By similarity). Phosphorylated on serine upon DNA damage, probably by ATM or ATR.
  • Ubiquitinated.
  • Ubiquitination at Lys 413, Lys 495, Lys 638, Lys 754, Lys 801, Lys 818, Lys 860, and Lys 890
  • Modification sites at PhosphoSitePlus

Other Protein References for EPS15 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EPS15 (EPS15)
  • Abcam antibodies for EPS15

No data available for DME Specific Peptides for EPS15 Gene

Domains & Families for EPS15 Gene

Gene Families for EPS15 Gene

Suggested Antigen Peptide Sequences for EPS15 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P42566

UniProtKB/Swiss-Prot:

EPS15_HUMAN :
  • The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.
Domain:
  • The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.
  • The UIM (ubiquitin-interacting motif) repeats specifically bind Lys-33-linked ubiquitin.
  • Contains 2 EF-hand domains.
  • Contains 3 EH domains.
  • Contains 2 UIM (ubiquitin-interacting motif) domains.
genes like me logo Genes that share domains with EPS15: view

Function for EPS15 Gene

Molecular function for EPS15 Gene

GENATLAS Biochemistry:
EGFR pathway substrate,mouse eps15 homolog,likely involved in cell growth regulation
UniProtKB/Swiss-Prot Function:
Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. 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.

Gene Ontology (GO) - Molecular Function for EPS15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,IPI 10064583
GO:0017124 SH3 domain binding IEA --
GO:0031593 polyubiquitin binding IDA 24768539
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with EPS15: view
genes like me logo Genes that share phenotypes with EPS15: view

Animal Models for EPS15 Gene

MGI Knock Outs for EPS15:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPS15

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPS15 Gene

Localization for EPS15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPS15 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Recruited to the plasma membrane upon EGFR activation and localizes to coated pits. Colocalizes with UBQLN1 in ubiquitin-rich cytoplasmic aggregates that are not endocytic compartments and in cytoplasmic juxtanuclear structures called aggresomes. {ECO:0000269 PubMed:16159959}.
Isoform 2: Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes with HGS on bilayered clathrin coats on endosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPS15 Gene COMPARTMENTS Subcellular localization image for EPS15 gene
Compartment Confidence
cytosol 5
plasma membrane 5
endosome 4
nucleus 3
cytoskeleton 2
lysosome 2
vacuole 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EPS15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005769 early endosome IEA --
GO:0005829 cytosol IEA,TAS --
GO:0005886 plasma membrane IEA,IDA 15465819
GO:0005905 clathrin-coated pit IEA,TAS 9762922
genes like me logo Genes that share ontologies with EPS15: view

Pathways & Interactions for EPS15 Gene

genes like me logo Genes that share pathways with EPS15: view

Pathways by source for EPS15 Gene

SIGNOR curated interactions for EPS15 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EPS15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006895 Golgi to endosome transport IMP 24768539
GO:0007173 epidermal growth factor receptor signaling pathway TAS 8183552
GO:0008283 cell proliferation TAS 8183552
GO:0015031 protein transport IEA --
GO:0016050 vesicle organization TAS 9762922
genes like me logo Genes that share ontologies with EPS15: view

Drugs & Compounds for EPS15 Gene

(2) Drugs for EPS15 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for EPS15 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EPS15: view

Transcripts for EPS15 Gene

Unigene Clusters for EPS15 Gene

Epidermal growth factor receptor pathway substrate 15:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPS15

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPS15 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - - - -
SP2: - - - - - - -
SP3: - -
SP4: - - -
SP5:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for EPS15 Gene

GeneLoc Exon Structure for
EPS15
ECgene alternative splicing isoforms for
EPS15

Expression for EPS15 Gene

mRNA expression in normal human tissues for EPS15 Gene

Protein differential expression in normal tissues from HIPED for EPS15 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (26.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EPS15 Gene



Protein tissue co-expression partners for EPS15 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EPS15 Gene:

EPS15

SOURCE GeneReport for Unigene cluster for EPS15 Gene:

Hs.83722

mRNA Expression by UniProt/SwissProt for EPS15 Gene:

P42566-EPS15_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with EPS15: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for EPS15 Gene

Orthologs for EPS15 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EPS15 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EPS15 34
  • 93.12 (n)
  • 93.19 (a)
EPS15 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eps15 34
  • 89.45 (n)
  • 89.6 (a)
Eps15 16
Eps15 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eps15 34
  • 88.85 (n)
  • 89.19 (a)
dog
(Canis familiaris)
Mammalia EPS15 35
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPS15 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPS15 35
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPS15 35
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPS15 34
  • 77.64 (n)
  • 77.9 (a)
EPS15 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPS15 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eps15 34
  • 65.79 (n)
  • 65.75 (a)
zebrafish
(Danio rerio)
Actinopterygii eps15 34
  • 60.63 (n)
  • 61.72 (a)
eps15 35
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Eps-15 35
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ehs-1 35
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EDE1 35
  • 14 (a)
OneToMany
EDE1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
Species where no ortholog for EPS15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • 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 EPS15 Gene

ENSEMBL:
Gene Tree for EPS15 (if available)
TreeFam:
Gene Tree for EPS15 (if available)

Paralogs for EPS15 Gene

Paralogs for EPS15 Gene

(2) SIMAP similar genes for EPS15 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EPS15: view

Variants for EPS15 Gene

Sequence variations from dbSNP and Humsavar for EPS15 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs17567 - 51,361,249(+) CAAAA(C/T)ATTTC reference, missense
rs7308 -- 51,355,318(-) GGTCA(A/C)CAAGT utr-variant-3-prime
rs12130 -- 51,354,741(+) GTCCA(C/T)GGGGT utr-variant-3-prime
rs1149787 -- 51,429,462(-) aaata(C/T)acata intron-variant
rs1149788 -- 51,438,521(+) GTACA(C/T)TTGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPS15 Gene

Variant ID Type Subtype PubMed ID
esv25434 CNV loss 19812545
esv2659806 CNV deletion 23128226
esv3307818 CNV mobile element insertion 20981092
esv3308869 CNV mobile element insertion 20981092
esv3363534 CNV insertion 20981092
esv3367601 CNV duplication 20981092
esv3422673 CNV insertion 20981092
esv3577854 CNV loss 25503493
esv3577855 CNV loss 25503493
esv3586035 CNV loss 21293372
esv3586036 CNV loss 21293372
nsv1077820 CNV deletion 25765185
nsv478230 CNV novel sequence insertion 20440878

Variation tolerance for EPS15 Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.45; 88.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPS15 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPS15

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPS15 Gene

Disorders for EPS15 Gene

UniProtKB/Swiss-Prot

EPS15_HUMAN
  • Note=A chromosomal aberration involving EPS15 is found in acute leukemias. Translocation t(1;11)(p32;q23) with KMT2A/MLL1. The result is a rogue activator protein.

Relevant External Links for EPS15

Genetic Association Database (GAD)
EPS15
Human Genome Epidemiology (HuGE) Navigator
EPS15
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPS15

No disorders were found for EPS15 Gene.

No data available for MalaCards and Genatlas for EPS15 Gene

Publications for EPS15 Gene

  1. The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32. (PMID: 8183552) Wong W.T. … di Fiore P.P. (Oncogene 1994) 2 3 4 22 65
  2. An endosomally localized isoform of Eps15 interacts with Hrs to mediate degradation of epidermal growth factor receptor. (PMID: 18362181) Roxrud I. … Stenmark H. (J. Cell Biol. 2008) 3 4 22 65
  3. STAM and Hrs are subunits of a multivalent ubiquitin-binding complex on early endosomes. (PMID: 12551915) Bache K.G. … Stenmark H. (J. Biol. Chem. 2003) 3 4 22 65
  4. Solution structure of Eps15's third EH domain reveals coincident Phe- Trp and Asn-Pro-Phe binding sites. (PMID: 10757979) Enmon J.L. … Overduin M. (Biochemistry 2000) 3 4 22 65
  5. Molecular mechanism of NPF recognition by EH domains. (PMID: 11062555) de Beer T. … Overduin M. (Nat. Struct. Biol. 2000) 3 4 22 65

Products for EPS15 Gene

Sources for EPS15 Gene

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