EPN1 (epsin 1)

2014-08-01  

Identity

HGNC
EPN1
LOCATION
19q13.42
LOCUSID
29924
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29924
MIM: 607262
HGNC: 21604
Ensembl: ENSG00000063245

Variants:

dbSNP: 29924
ClinVar: 29924
TCGA: ENSG00000063245
COSMIC: EPN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000063245ENST00000085079Q9Y6I3
ENSG00000063245ENST00000270460Q9Y6I3
ENSG00000063245ENST00000270460A0A024R4S1
ENSG00000063245ENST00000411543Q9Y6I3
ENSG00000063245ENST00000589704K7EMP4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
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

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
123530272002Curvature of clathrin-coated pits driven by epsin.341
262048062015Intrinsically disordered proteins drive membrane curvature.58
190543892009Epsin 1 is involved in recruitment of ubiquitinated EGF receptors into clathrin-coated pits.44
219656612011Adaptor protein complex-2 (AP-2) and epsin-1 mediate protease-activated receptor-1 internalization via phosphorylation- and ubiquitination-dependent sorting signals.35
197040192009A requirement for epsin in mitotic membrane and spindle organization.27
258710092015Epsin is required for Dishevelled stability and Wnt signalling activation in colon cancer development.12
293623542018Epsin and Sla2 form assemblies through phospholipid interfaces.8
156943832005The U-box ligase carboxyl-terminus of Hsc 70-interacting protein ubiquitylates Epsin.4
269755822016Interaction with epsin 1 regulates the constitutive clathrin-dependent internalization of ErbB3.2

Citation

Dessen P

EPN1 (epsin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54286/epn1