EPS15L1 - epidermal growth factor receptor pathway substrate 15 like 1 Gene

Homo sapiens

Also known as EPS15R

Gene ID: 58513 | Gene type: protein coding

About EPS15L1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:16,355,247-16,472,012 (from NCBI)

This gene has 16 transcripts (splice variants), 293 orthologues, 10 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 4.8), heart (RPKM 4.6) and 25 other tissues.

Summary

Enables cadherin binding activity. Predicted to be involved in endocytosis and endosomal transport. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

EPS15L1 Products(4)

mRNA	Protein	Name
NM_001258374.3	NP_001245303.1	epidermal growth factor receptor substrate 15-like 1 isoform 1
NM_001258375.2	NP_001245304.1	epidermal growth factor receptor substrate 15-like 1 isoform 3
NM_001258376.2	NP_001245305.1	epidermal growth factor receptor substrate 15-like 1 isoform 4
NM_021235.3	NP_067058.1	epidermal growth factor receptor substrate 15-like 1 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16159959	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPS15L1 Protein Structure

EF-hand_4

0
200
400
600
800
864 a.a.

Protein Preferred Names

Protein Names

epidermal growth factor receptor substrate 15-like 1

epidermal growth factor receptor substrate EPS15R

EPS15L1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EPS15L1	Q9UBC2	GNG5	Homo sapiens	P63218	Validated Y2H	25416956
Intra	EPS15L1	Q9UBC2	GNG5	Homo sapiens	P63218	Y2H Prey Pooling	25416956
Intra	EPS15L1	Q9UBC2	GNG5	Homo sapiens	P63218	Y2H Array	25416956
Intra	EPS15L1	Q9UBC2	ITSN2	Homo sapiens	Q9NZM3	Anti Tag CoIP	33961781
Intra	EPS15L1	Q9UBC2	STON2	Homo sapiens	Q8WXE9	ITC	18200045
Intra	EPS15L1	Q9UBC2	STON2	Homo sapiens	Q8WXE9	Anti Tag CoIP	33961781
Intra	EPS15L1	Q9UBC2	TRAPPC2	Homo sapiens	P0DI81	Validated Y2H	25416956
Intra	EPS15L1	Q9UBC2	TRAPPC2	Homo sapiens	P0DI81	Y2H Array	25416956
Intra	EPS15L1	Q9UBC2	ITSN1	Homo sapiens	Q15811	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

EPS15L1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83031	EPS15R Antibody (YA2776)	WB, IP	Human

Related Diseases

Diseases

Alias

Isolated Split Hand-Split Foot Malformation

Ectrodactyly	Shfm
Split Hand Foot Malformation	Split-Hand/Foot Malformation
Split Hand Foot Deformity 1	Split Hand Foot Deformity

Split-Hand/Foot Malformation 6

Split Hand-Foot Malformation 6	SHFM6
Ectrodactyly, Autosomal Recessive	Ectrodactyly Autosomal Recessive
Split-Hand/Foot Malformation, Type 6

Split-Hand/Foot Malformation 5

Split Hand-Foot Malformation 5

SHFM5

Split-Hand/Foot Malformation 2

SHFM2	Shfd2
Shsf2	Split Hand/Foot Malformation 2
Split Hand-Foot Malformation 2	Split-Hand/Split-Foot Anomaly, X-Linked
Split-Hand/Foot Deformity 2	Split Hand/Foot Malformation X-Linked
Split Hand Foot Anomaly - X-Linked	Split Hand Foot Deformity 2

Split-Hand/Foot Malformation 4

SHFM4	Split Hand-Foot Malformation 4
Split-Hand/Foot Malformation, Type 4

Split Hand-Foot Malformation

Ectrodactyly	Split-Hand/Foot Malformation
Lobster-Claw Deformity	Split-Hand Deformity
Split Hand Foot Malformation	Shfm
Split Hand Foot Deformity	Split Hand Foot Deformity 1

Chemical Colitis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04453	EPS15L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	EPS15L1	VGNC	VGNC:72100
Bos taurus	EPS15L1	VGNC	VGNC:28554
Felis catus	EPS15L1	VGNC	VGNC:61919
Mus musculus	EPS15L1	MGD	MGI:104582
Canis familiaris	EPS15L1	VGNC	VGNC:40426
Rattus norvegicus	EPS15L1	RGD	RGD:1565708

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