EPS15 (epidermal growth factor receptor pathway substrate 15)

1998-04-01   Olivier Bernard 

Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France

Identity

HGNC
LOCATION
1p32.3
IMAGE
Atlas Image
LEGEND
AF1p (1p32) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
AF-1P,AF1P,MLLT5
FUSION GENES

DNA/RNA

Description

coding sequence: CDS 93..2783

Transcription

4.4 kb mRNA

Proteins

Description

896 amino acids; NH2 -- coiled-coil region -- DPF repeat -- COOH; oligomerization properties

Expression

wide

Localisation

cytoplasmic

Function

implicated in endocytocis; probable EGF receptor tyrosine kinase substrate.

Homology

PAN1 (yeast); eps15R (human)

Implicated in

Entity name
Disease
AMMOL
Fusion protein
N-term -- AT hook and DNA methyltransferase from MLL fused to almost all AF1p

Bibliography

Pubmed IDLast YearTitleAuthors
75429101995Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.Bernard OA et al
76891531993eps15, a novel tyrosine kinase substrate, exhibits transforming activity.Fazioli F et al
8558942199611q23 rearrangements in acute leukemia.Rubnitz JE et al
89105091996Eps15 is a component of clathrin-coated pits and vesicles and is located at the rim of coated pits.Tebar F et al
95315491998Pan1p, yeast eps15, functions as a multivalent adaptor that coordinates protein-protein interactions essential for endocytosis.Wendland B et al
89770381996Chromosome abnormalities in leukaemia: the 11q23 paradigm.Young BD et al

Other Information

Locus ID:

NCBI: 2060
MIM: 600051
HGNC: 3419
Ensembl: ENSG00000085832

Variants:

dbSNP: 2060
ClinVar: 2060
TCGA: ENSG00000085832
COSMIC: EPS15

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000085832ENST00000371730B1AUU8
ENSG00000085832ENST00000371733P42566
ENSG00000085832ENST00000465467S4R3U1

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
EGFR downregulationREACTOMER-HSA-182971
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825
Signaling by METREACTOMER-HSA-6806834
Negative regulation of MET activityREACTOMER-HSA-6807004
Listeria monocytogenes entry into host cellsREACTOMER-HSA-8876384
InlB-mediated entry of Listeria monocytogenes into host cellREACTOMER-HSA-8875360

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
146711062004A JC virus-induced signal is required for infection of glial cells by a clathrin- and eps15-dependent pathway.41
161599592005Ubiquilin recruits Eps15 into ubiquitin-rich cytoplasmic aggregates via a UIM-UBL interaction.29
272377912016Transient Fcho1/2⋅Eps15/R⋅AP-2 Nanoclusters Prime the AP-2 Clathrin Adaptor for Cargo Binding.28
201069722010Mechanism for the selective interaction of C-terminal Eps15 homology domain proteins with specific Asn-Pro-Phe-containing partners.27
128079102003Eps15 homology domain-NPF motif interactions regulate clathrin coat assembly during synaptic vesicle recycling.26
183621812008An endosomally localized isoform of Eps15 interacts with Hrs to mediate degradation of epidermal growth factor receptor.24
176260152007SGIP1alpha is an endocytic protein that directly interacts with phospholipids and Eps15.18
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
218320702011Recycling of the epidermal growth factor receptor is mediated by a novel form of the clathrin adaptor protein Eps15.18
267488532016USP9X Controls EGFR Fate by Deubiquitinating the Endocytic Adaptor Eps15.18

Citation

Olivier Bernard

EPS15 (epidermal growth factor receptor pathway substrate 15)

Atlas Genet Cytogenet Oncol Haematol. 1998-04-01

Online version: http://atlasgeneticsoncology.org/gene/11/eps15