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Aliases for EPS15 Gene

Aliases for EPS15 Gene

  • Epidermal Growth Factor Receptor Pathway Substrate 15 2 3
  • 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

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. Diseases associated with EPS15 include troyer syndrome. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is EHD1.

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

Genomic Location for EPS15 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 STAM1 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).

    Three dimensional structures from OCA and Proteopedia for EPS15 Gene

    Alternative splice isoforms for EPS15 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPS15 Gene

Proteomics data for EPS15 Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys413, Lys495, Lys638, Lys754, Lys788, Lys793, Lys801, Lys818, Lys860, and Lys890

Other Protein References for EPS15 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for EPS15 Gene

Domains for EPS15 Gene

Gene Families for EPS15 Gene

HGNC:
  • EFHAND :EF-hand domain containing

UniProtKB/Swiss-Prot:

EPS15_HUMAN
Domain:
  • The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.:
    • P42566
  • The UIM (ubiquitin-interacting motif) repeats specifically bind Lys-33-linked ubiquitin.:
    • P42566
  • Contains 2 EF-hand domains.:
    • P42566
  • Contains 3 EH domains.:
    • P42566
  • Contains 2 UIM (ubiquitin-interacting motif) domains.:
    • P42566
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 IPI 10383425
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:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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.
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
endosome 5
plasma membrane 5
cytosol 4
nucleus 3
cytoskeleton 2
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for EPS15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005768 endosome --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 15465819
GO:0005905 coated pit TAS 9762922
genes like me logo Genes that share ontologies with EPS15: view

Pathways for EPS15 Gene

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

Pathways by source for EPS15 Gene

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:0006897 endocytosis --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0008283 cell proliferation TAS 8183552
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with EPS15: view

Compounds for EPS15 Gene

(5) Novoseek inferred chemical compound relationships for EPS15 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 47.2 27
phosphotyrosine 37.8 3
cholesterol 0 2
lipid 0 1
phosphatidylinositol 0 2
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:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPS15 Gene

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 expressions with EPS15: view

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
chimpanzee
(Pan troglodytes)
Mammalia EPS15 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPS15 36
  • 93.12 (n)
  • 93.19 (a)
EPS15 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPS15 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eps15 36
  • 89.45 (n)
  • 89.6 (a)
Eps15 16
Eps15 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPS15 37
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPS15 37
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eps15 36
  • 88.85 (n)
  • 89.19 (a)
chicken
(Gallus gallus)
Aves EPS15 36
  • 77.64 (n)
  • 77.9 (a)
EPS15 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPS15 37
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eps15 36
  • 65.79 (n)
  • 65.75 (a)
zebrafish
(Danio rerio)
Actinopterygii eps15 36
  • 60.63 (n)
  • 61.72 (a)
eps15 37
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Eps-15 37
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ehs-1 37
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EDE1 37
  • 14 (a)
OneToMany
EDE1 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
OneToMany
Species with no ortholog for EPS15:
  • 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

Selected 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 MAF
rs7308 -- 51,355,318(-) GGTCA(A/C)CAAGT utr-variant-3-prime
rs12130 -- 51,354,741(+) GTCCA(C/T)GGGGT utr-variant-3-prime
rs17567 - 51,361,249(+) CAAAA(C/T)ATTTC reference, missense
rs947208 -- 51,438,456(+) ATTTT(A/T)TCTAT intron-variant
rs1002720 -- 51,378,686(-) GTTAA(G/T)TATAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv272092 CNV Insertion 20981092
esv2659806 CNV Deletion 23128226
esv25434 CNV Loss 19812545
esv273142 CNV Insertion 20981092

Relevant External Links for EPS15 Gene

HapMap Linkage Disequilibrium report
EPS15

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.

(1) MalaCards Diseases for EPS15 Gene

Search for EPS15 Gene in MalaCards »

(2) Novoseek inferred disease relationships for EPS15 Gene

Disease -log(P) Hits PubMed IDs
down syndrome 11.5 1
tumors 0 2

Relevant External Links for EPS15

Genetic Association Database (GAD)
EPS15
Human Genome Epidemiology (HuGE) Navigator
EPS15
genes like me logo Genes that share disorders with EPS15: view

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 23
  2. Structure and Asn-Pro-Phe binding pocket of the Eps15 homology domain. (PMID: 9721102) de Beer T. … Overduin M. (Science 1998) 3 4 23
  3. Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis. (PMID: 9723620) Chen H. … De Camilli P. (Nature 1998) 3 4 23
  4. Molecular mechanism of NPF recognition by EH domains. (PMID: 11062555) de Beer T. … Overduin M. (Nat. Struct. Biol. 2000) 3 4 23
  5. 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 23

Products for EPS15 Gene

  • Addgene plasmids for EPS15
  • antibodies-online peptides for EPS15
  • antibodies-online antibodies for EPS15
  • antibodies-online kits for EPS15

Sources for EPS15 Gene

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