EPS8L1 - EPS8 like 1 Gene

Homo sapiens

Also known as DRC3; EPS8R1; PP10566

Gene ID: 54869 | Gene type: protein coding

About EPS8L1

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,075,869-55,087,923 (from NCBI)

This gene has 19 transcripts (splice variants), 259 orthologues and 3 paralogues. Biased expression in esophagus (RPKM 25.5), skin (RPKM 19.7) and 12 other tissues.

Summary

This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

EPS8L1 Products(2)

mRNA	Protein	Name
NM_017729.4	NP_060199.3	epidermal growth factor receptor kinase substrate 8-like protein 1 isoform b
NM_133180.3	NP_573441.2	epidermal growth factor receptor kinase substrate 8-like protein 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables T cell receptor binding	IPI IPI: Inferred from physical interaction	17617578	GOA
enables actin binding	IDA IDA: Inferred from direct assay	14565974	GOA
contributes to guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	14565974	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14565974	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Rho protein signal transduction	IDA IDA: Inferred from direct assay	14565974	GOA
involved in positive regulation of ruffle assembly	IGI IGI: Inferred from genetic interaction	14565974	GOA
involved in regulation of Rho protein signal transduction	IDA IDA: Inferred from direct assay	14565974	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	14565974	GOA
located in ruffle membrane	IDA IDA: Inferred from direct assay	14565974	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

EPS8L1 Protein Structure

PTB

SH3_1

0
200
400
600
723 a.a.

Protein Preferred Names

Protein Names

epidermal growth factor receptor kinase substrate 8-like protein 1

EPS8-like protein 1

EPS8L1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EPS8L1	Q8TE68	CD3E	Homo sapiens	P07766	Anti Tag CoIP	17617578
Intra	EPS8L1	Q8TE68	CD3E	Homo sapiens	P07766	Filamentous Phage	17617578
Intra	EPS8L1	Q8TE68	CD3E	Homo sapiens	P07766	ITC	18644376
Intra	EPS8L1	Q8TE68	TERF2IP	Homo sapiens	Q9NYB0	Pull Down	21044950
Intra	EPS8L1	Q8TE68	TERF2IP	Homo sapiens	Q9NYB0	BiFC	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Villous Adenocarcinoma

Fetal Akinesia Deformation Sequence 4

FADS4	Fetal Akinesia Deformation Sequence Syndrome 4
Akinesia, Fetal, Deformation Sequence, Type 4

Spinal Canal Intradural Extramedullary Neoplasm

Intradural Extramedullary Spinal Tumors

Intradural Extramedullary Spinal Canal Neoplasm

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence	Fads
Fetal Akinesia Sequence	FADS1
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia	Pena-Shokeir Syndrome Type 1
Fetal Akinesia Deformation Sequence Syndrome	Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia	Pena-Shokeir Syndrome, Type I
Foetal Akinesia Deformation Sequence Syndrome	Foetal Akinesia Sequence
Fetal Akinesia Deformation Sequence Syndrome 1	Pena-Shokeir Syndrome, Type 1
Pena Shokeir Syndrome, Type 1	Akinesia, Fetal, Deformation Sequence
Akinesia, Fetal, Deformation Sequence, Type 1	Pena-Shokeir Syndrome Type I

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-RS04455	EPS8L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EPS8L1	VGNC	VGNC:61921
Mus musculus	EPS8L1	MGD	MGI:1914675
Canis familiaris	EPS8L1	VGNC	VGNC:40428
Bos taurus	EPS8L1	VGNC	VGNC:28556
Rattus norvegicus	EPS8L1	RGD	RGD:1311146
Macaca mulatta	EPS8L1	VGNC	VGNC:109623

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