EPS15L1 (epidermal growth factor receptor pathway substrate 15 like 1)

2014-11-01  

Identity

HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
EPS15R
FUSION GENES

Other Information

Locus ID:

NCBI: 58513
MIM: 616826
HGNC: 24634
Ensembl: ENSG00000127527

Variants:

dbSNP: 58513
ClinVar: 58513
TCGA: ENSG00000127527
COSMIC: EPS15L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127527ENST00000248070Q9UBC2
ENSG00000127527ENST00000455140Q9UBC2
ENSG00000127527ENST00000535753Q9UBC2
ENSG00000127527ENST00000535753A0A024R7G6
ENSG00000127527ENST00000592031K7EJR2
ENSG00000127527ENST00000593760M0R330
ENSG00000127527ENST00000594851M0QY01
ENSG00000127527ENST00000594975M0R165
ENSG00000127527ENST00000596037M0R1V5
ENSG00000127527ENST00000597937Q9UBC2
ENSG00000127527ENST00000599790M0R3I1
ENSG00000127527ENST00000602009M0R2S2
ENSG00000127527ENST00000602022Q9UBC2
ENSG00000127527ENST00000602022A0A024R7G6
ENSG00000127527ENST00000602151M0QX30

Expression (GTEx)

0
5
10
15
20
25
30
35

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

References

Pubmed IDYearTitleCitations
290236802018First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.5

Citation

Dessen P

EPS15L1 (epidermal growth factor receptor pathway substrate 15 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62871/eps15l1