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

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

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		/	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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