EPS8L1 - EPS8 like 1 Gene

Also Known as DRC3; EPS8R1; PP10566

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54869

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

PTB: Phosphotyrosine-binding domain (35 - 165)

SH3_1

SH3_1: SH3 domain (487 - 528)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
EPS8L1 Q8TE68 CD3E Homo sapiens P07766 17617578
Intra
EPS8L1 Q8TE68 CD3E Homo sapiens P07766 17617578
Intra
EPS8L1 Q8TE68 CD3E Homo sapiens P07766
ITC
18644376
Intra
EPS8L1 Q8TE68 TERF2IP Homo sapiens Q9NYB0 21044950
Intra
EPS8L1 Q8TE68 TERF2IP Homo sapiens Q9NYB0 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

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
Others EPS8L1 NCBI