EPS8L3 - EPS8 like 3 Gene

Also Known as HYPT5; EPS8R3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79574

About EPS8L3

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:109,750,080-109,763,923 (from NCBI)

This gene has 10 transcripts (splice variants), 266 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 73.4), duodenum (RPKM 70.1) and 4 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. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

EPS8L3 Products (4)

mRNA Protein Name
NM_001319952.2 NP_001306881.1 epidermal growth factor receptor kinase substrate 8-like protein 3 isoform d
NM_024526.4 NP_078802.2 epidermal growth factor receptor kinase substrate 8-like protein 3 isoform c
NM_133181.4 NP_573444.2 epidermal growth factor receptor kinase substrate 8-like protein 3 isoform b
NM_139053.3 NP_620641.1 epidermal growth factor receptor kinase substrate 8-like protein 3 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
NOT enables actin filament binding IDA
IDA: Inferred from direct assay
14565974 GOA
enables 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 regulation of hair cycle IMP
IMP: Inferred from mutant phenotype
23099647 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm 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

EPS8L3 Protein Structure

PTB

PTB: Phosphotyrosine-binding domain (28 - 150)

SH3_1

SH3_1: SH3 domain (457 - 501)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 593 a.a.
Protein Preferred Names Protein Names

epidermal growth factor receptor kinase substrate 8-like protein 3

  • EPS8-like protein 3

Related Diseases

Diseases Alias
Marie Unna Congenital Hypotrichosis

  • Marie Unna Hereditary Hypotrichosis

  • Hypotrichosis, Marie Unna Type

  • Muhh
Hypotrichosis 5

  • HYPT5

  • Marie Unna Hereditary Hypotrichosis 2

  • Muhh2

  • Hypotrichosis, Hereditary, Marie Unna Type, 2
Hypotrichosis
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04457 EPS8L3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus EPS8L3 RGD RGD:11498829
Felis catus EPS8L3 VGNC VGNC:61923
Bos taurus EPS8L3 VGNC VGNC:59179
Canis familiaris EPS8L3 VGNC VGNC:40430
Mus musculus EPS8L3 MGD MGI:2139743
Macaca mulatta EPS8L3 VGNC VGNC:72082
Others EPS8L3 NCBI