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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]
EPS15 (Epidermal Growth Factor Receptor Pathway Substrate 15) is a Protein Coding gene. Diseases associated with EPS15 include Vaccinia and Cataract 8, Multiple Types. Among its related pathways are RET signaling and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is EPS15L1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 10064583 |
GO:0017124 | SH3 domain binding | IEA | -- |
GO:0031593 | polyubiquitin modification-dependent protein binding | IDA | 24768539 |
GO:0042802 | identical protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005768 | endosome | IEA | -- |
GO:0005769 | early endosome | IEA | -- |
GO:0005829 | cytosol | IEA,TAS | -- |
GO:0005886 | plasma membrane | IDA | 15465819 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Listeria monocytogenes entry into host cells | ||
2 | Clathrin-mediated endocytosis | ||
3 | HIV Life Cycle |
.45
|
|
4 | Vesicle-mediated transport | ||
5 | Delta508-CFTR traffic / ER-to-Golgi in CF |
Transport Clathrin-coated vesicle cycle
.32
|
wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
.31
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001921 | positive regulation of receptor recycling | IEA | -- |
GO:0006895 | Golgi to endosome transport | IMP | 24768539 |
GO:0006897 | endocytosis | IEA,IBA | 21873635 |
GO:0015031 | protein transport | IEA | -- |
GO:0016032 | viral process | IEA | -- |
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: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EPS15 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EPS15 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EPS15 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Eps15 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Eps15 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | EPS15 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EPS15 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EPS15 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EPS15 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eps15 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | eps15 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Eps-15 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ehs-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | EDE1 31 33 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs17567 | - | p.Ile822Met |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
vaccinia |
|
|
cataract 8, multiple types |
|
|
menkes disease |
|
|
spastic paraplegia 20, autosomal recessive |
|
|