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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EPS15L1
epidermal growth factor receptor pathway substrate 15 like 1
Chromosome 19 · 19p13.11
NCBI Gene: 58513Ensembl: ENSG00000127527.15HGNC: HGNC:24634UniProt: A0AAQ5BI61
122PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmembranecadherin bindingendosomal transportmultiple sclerosissplit hand-foot malformationSplit hand-split foot malformationParkinson disease
✦AI Summary

EPS15L1 is a constitutive component of clathrin-coated pits essential for receptor-mediated endocytosis, particularly involved in internalization of integrin beta-1 and transferrin receptor [UniProt]. Beyond its canonical endocytic role, EPS15L1 has emerged as a multi-functional protein with broader physiological significance. In immune development, EPS15L1 is essential for T lymphocyte development in zebrafish, with homozygous loss-of-function causing impaired T cell development 1. Developmentally, a frameshift deletion in EPS15L1 represents the first documented biallelic variant causing split-hand/split-foot malformation (SHFM), indicating critical roles in human limb development 2. Genetically, EPS15L1 variants on chromosome 19 associate with lymphocyte count variation in genome-wide association studies 3. In cancer biology, EPS15L1 participates in aberrant fusion events: it forms oncogenic chimeric proteins with long noncoding RNAs in various cancers, potentially regulating pyroptosis through GSDME 4, and its expression levels predict lymph node metastasis risk in hepatocellular carcinoma 5. Additionally, EPS15L1 integrates into EGFR signaling networks through interactions with CBL/CBLB ubiquitin ligases 6 and is regulated by lncRNA ABHD11-AS1 to promote thyroid cancer progression 7. These findings reveal EPS15L1 as a multifaceted endocytic adapter with developmental, immunological, and oncogenic functions.

Sources cited
1
EPS15L1 is essential for T lymphocyte development in zebrafish; homozygous disruption impairs T cell development
PMID: 26161877
2
Homozygous loss-of-function frameshift deletion in EPS15L1 is the first biallelic variant identified underlying split-hand/split-foot malformation
PMID: 29023680
3
EPS15L1 variants at chromosome 19p13 are genome-wide significantly associated with lymphocyte count variation
PMID: 21738480
4
EPS15L1 forms tumor-promoting chimeric proteins with lncRNAs in cancer; EPS15L1-lncOR7C2-1 fusion may regulate GSDME in pyroptosis
PMID: 33275145
5
lnc-EPS15L1-2:1 expression predicts lymph node metastasis risk in hepatocellular carcinoma
PMID: 31355249
6
EPS15L1 stably associates with CBL and CBLB ubiquitin ligases in EGFR signaling networks
PMID: 34134489
7
EPS15L1 is regulated by lncRNA ABHD11-AS1 to promote tumor progression in papillary thyroid carcinoma via EGFR pathway activation
PMID: 35098448
Disease Associationsⓘ20
multiple sclerosisOpen Targets
0.39Weak
split hand-foot malformationOpen Targets
0.37Weak
Split hand-split foot malformationOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.31Weak
lysosomal storage diseaseOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.31Weak
Parkinson diseaseOpen Targets
0.31Weak
Abruptio PlacentaeOpen Targets
0.14Weak
polyp of colonOpen Targets
0.14Weak
Phenotypic abnormalityOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.04Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.03Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.03Suggestive
iridocorneal endothelial syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GRB2Protein interaction100%UBCProtein interaction100%RPS27AProtein interaction98%SYNJ1Protein interaction97%SNAP91Protein interaction97%FCHO1Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Ovary
64%
Brain
61%
Lung
61%
Bone Marrow
55%
Liver
34%
Gene Interaction Network
Click a node to explore
EPS15L1GRB2UBCRPS27ASYNJ1SNAP91FCHO1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UBC2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.45Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.35 [0.27–0.45]
RankingsWhere EPS15L1 stands among ~20K protein-coding genes
  • #3,850of 20,598
    Most Researched122 · top quartile
  • #2,532of 17,882
    Most Constrained (LOEUF)0.45 · top quartile
Genes detectedEPS15L1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of long noncoding RNA-involved and tumor-specific fusions across various cancers.
PMID: 33275145
Nucleic Acids Res · 2020
1.00
2
Analysis of Human Papilloma Virus Content and Integration in Mucoepidermoid Carcinoma.
PMID: 36366450
Viruses · 2022
0.90
3
First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.
PMID: 29023680
Clin Genet · 2018
0.80
4
Mutagenesis Screen Identifies agtpbp1 and eps15L1 as Essential for T lymphocyte Development in Zebrafish.
PMID: 26161877
PLoS One · 2015
0.70
5
Stable and EGF-Induced Temporal Interactome Profiling of CBL and CBLB Highlights Their Signaling Complex Diversity.
PMID: 34134489
J Proteome Res · 2021
0.60