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
EPS15
LOCATION
1p32.3
IMAGE
Atlas Image
LEGEND
AF1p (1p32) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
2060
ALIAS
AF-1P,AF1P,MLLT5
FUSION GENES
Show Gene Fusions

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
t(1;11) (p32;q23)/AML --> KMT2A - EPS15
Disease
AMMOL
Fusion protein
N-term -- AT hook and DNA methyltransferase from MLL fused to almost all AF1p

Bibliography

Pubmed IDLast YearTitleAuthors

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378276952023Modified iPOND revealed the role of mutant p53 in promoting helicase function and telomere maintenance.0
378276952023Modified iPOND revealed the role of mutant p53 in promoting helicase function and telomere maintenance.0
330374662020EPS15-NTRK1: a novel NTRK1 oncogenic fusion in patient with lung adenocarcinoma.0
330374662020EPS15-NTRK1: a novel NTRK1 oncogenic fusion in patient with lung adenocarcinoma.0
282151042017Increased Eps15 homology domain 1 and RAB11FIP3 expression regulate breast cancer progression via promoting epithelial growth factor receptor recycling.13
282285502017Interaction of phosphorylated Rab11-FIP2 with Eps15 regulates apical junction composition.3
282151042017Increased Eps15 homology domain 1 and RAB11FIP3 expression regulate breast cancer progression via promoting epithelial growth factor receptor recycling.13
282285502017Interaction of phosphorylated Rab11-FIP2 with Eps15 regulates apical junction composition.3
267488532016USP9X Controls EGFR Fate by Deubiquitinating the Endocytic Adaptor Eps15.45
270081772016A SPOPL/Cullin-3 ubiquitin ligase complex regulates endocytic trafficking by targeting EPS15 at endosomes.32
272377912016Transient Fcho1/2⋅Eps15/R⋅AP-2 Nanoclusters Prime the AP-2 Clathrin Adaptor for Cargo Binding.52
267488532016USP9X Controls EGFR Fate by Deubiquitinating the Endocytic Adaptor Eps15.45
270081772016A SPOPL/Cullin-3 ubiquitin ligase complex regulates endocytic trafficking by targeting EPS15 at endosomes.32
272377912016Transient Fcho1/2⋅Eps15/R⋅AP-2 Nanoclusters Prime the AP-2 Clathrin Adaptor for Cargo Binding.52
262893822015Over-expression of EPS15 is a favorable prognostic factor in breast cancer.4

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/js/js/lib/js/lib/all.min.js