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] See more...

Aliases for EPS8L1 Gene

Aliases for EPS8L1 Gene

  • EPS8 Like 1 2 3 5
  • DRC3 2 3 4
  • Epidermal Growth Factor Receptor Pathway Substrate 8-Related Protein 1 3 4
  • Epidermal Growth Factor Receptor Kinase Substrate 8-Like Protein 1 3 4
  • EPS8-Related Protein 1 3 4
  • EPS8-Like Protein 1 3 4
  • EPS8R1 3 4
  • FLJ20258 2
  • MGC23164 2
  • PP10566 3
  • MGC4642 2
  • EPS8L1 5

External Ids for EPS8L1 Gene

Previous GeneCards Identifiers for EPS8L1 Gene

  • GC19P060259
  • GC19P060275
  • GC19P055583
  • GC19P051911
  • GC19P055073
  • GC19P055112
  • GC19P055138
  • GC19P055174
  • GC19P055302
  • GC19P055090
  • GC19P055449
  • GC19P055646

Summaries for EPS8L1 Gene

Entrez Gene Summary for EPS8L1 Gene

  • 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]

GeneCards Summary for EPS8L1 Gene

EPS8L1 (EPS8 Like 1) is a Protein Coding gene. Diseases associated with EPS8L1 include Fetal Akinesia Deformation Sequence 4 and Bartter Syndrome, Type 1, Antenatal. Gene Ontology (GO) annotations related to this gene include actin binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is EPS8.

UniProtKB/Swiss-Prot Summary for EPS8L1 Gene

  • Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton.

Gene Wiki entry for EPS8L1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPS8L1 Gene

Genomics for EPS8L1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EPS8L1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPS8L1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPS8L1

Top Transcription factor binding sites by QIAGEN in the EPS8L1 gene promoter:
  • NRSF form 1
  • NRSF form 2

Genomic Locations for EPS8L1 Gene

Latest Assembly
chr19:55,072,020-55,087,923
(GRCh38/hg38)
Size:
15,904 bases
Orientation:
Plus strand

Previous Assembly
chr19:55,587,237-55,599,291
(GRCh37/hg19 by Entrez Gene)
Size:
12,055 bases
Orientation:
Plus strand

chr19:55,583,388-55,599,291
(GRCh37/hg19 by Ensembl)
Size:
15,904 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr19(ALT_REF_LOCI_1):979,267-987,042 (+)
  • chr19(ALT_REF_LOCI_2):721,071-728,846 (+)
  • chr19(ALT_REF_LOCI_3):1,055,855-1,063,630 (+)
  • chr19(ALT_REF_LOCI_4):1,083,392-1,091,167 (+)
  • chr19(ALT_REF_LOCI_5):1,057,941-1,065,716 (+)
  • chr19(ALT_REF_LOCI_6):994,234-1,002,009 (+)
  • chr19(ALT_REF_LOCI_7):978,651-986,426 (+)
  • chr19(ALT_REF_LOCI_8):788,030-795,805 (+)
  • chr19(ALT_REF_LOCI_9):1,058,351-1,066,126 (+)

Genomic View for EPS8L1 Gene

Genes around EPS8L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPS8L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPS8L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPS8L1 Gene

Proteins for EPS8L1 Gene

  • Protein details for EPS8L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE68-ES8L1_HUMAN
    Recommended name:
    Epidermal growth factor receptor kinase substrate 8-like protein 1
    Protein Accession:
    Q8TE68
    Secondary Accessions:
    • Q71RE2
    • Q8NC10
    • Q96BB7
    • Q9BSQ2
    • Q9GZQ2
    • Q9NXH0

    Protein attributes for EPS8L1 Gene

    Size:
    723 amino acids
    Molecular mass:
    80251 Da
    Quaternary structure:
    • Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Associates with F-actin.
    SequenceCaution:
    • Sequence=AAG03038.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAG03039.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EPS8L1 Gene

    Alternative splice isoforms for EPS8L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPS8L1 Gene

Post-translational modifications for EPS8L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for EPS8L1

No data available for DME Specific Peptides for EPS8L1 Gene

Domains & Families for EPS8L1 Gene

Gene Families for EPS8L1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EPS8L1 Gene

Suggested Antigen Peptide Sequences for EPS8L1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60287, highly similar to Epidermal growth factor receptor kinase substrate 8-like protein 1 (B4DKV7_HUMAN)
  • Epidermal growth factor receptor pathway substrate 8-related protein 1 (ES8L1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TE68

UniProtKB/Swiss-Prot:

ES8L1_HUMAN :
  • Belongs to the EPS8 family.
Family:
  • Belongs to the EPS8 family.
genes like me logo Genes that share domains with EPS8L1: view

Function for EPS8L1 Gene

Molecular function for EPS8L1 Gene

UniProtKB/Swiss-Prot Function:
Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton.

Phenotypes From GWAS Catalog for EPS8L1 Gene

Gene Ontology (GO) - Molecular Function for EPS8L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA,IDA 14565974
GO:0005085 contributes_to guanyl-nucleotide exchange factor activity IBA,IDA 14565974
GO:0005515 protein binding IPI 14565974
GO:0016301 kinase activity IEA --
GO:0042608 T cell receptor binding IPI 17617578
genes like me logo Genes that share ontologies with EPS8L1: view
genes like me logo Genes that share phenotypes with EPS8L1: view

Animal Models for EPS8L1 Gene

MGI Knock Outs for EPS8L1:
  • Eps8l1 Eps8l1<tm2b(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS8L1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for EPS8L1 Gene

Localization for EPS8L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPS8L1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPS8L1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
nucleus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EPS8L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IBA 21873635
GO:0032587 ruffle membrane IBA,IDA 14565974
GO:0032991 protein-containing complex IDA 14565974
genes like me logo Genes that share ontologies with EPS8L1: view

Pathways & Interactions for EPS8L1 Gene

PathCards logo

SuperPathways for EPS8L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EPS8L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007266 Rho protein signal transduction IBA,IDA 14565974
GO:0016310 phosphorylation IEA --
GO:0035023 regulation of Rho protein signal transduction IDA 14565974
GO:0050790 regulation of catalytic activity IEA --
GO:1900029 positive regulation of ruffle assembly IBA,IGI 14565974
genes like me logo Genes that share ontologies with EPS8L1: view

No data available for Pathways by source and SIGNOR curated interactions for EPS8L1 Gene

Drugs & Compounds for EPS8L1 Gene

No Compound Related Data Available

Transcripts for EPS8L1 Gene

mRNA/cDNA for EPS8L1 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS8L1

Alternative Splicing Database (ASD) splice patterns (SP) for EPS8L1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - - - - - -
SP2: -
SP3:
SP4: -
SP5: -
SP6: -
SP7:
SP8:

ExUns: 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for EPS8L1 Gene

GeneLoc Exon Structure for
EPS8L1

Expression for EPS8L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPS8L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPS8L1 Gene

This gene is overexpressed in Esophagus - Mucosa (x17.8), Skin - Sun Exposed (Lower leg) (x6.4), Skin - Not Sun Exposed (Suprapubic) (x6.1), and Vagina (x4.5).

Protein differential expression in normal tissues from HIPED for EPS8L1 Gene

This gene is overexpressed in Cervix (44.4) and Urine (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPS8L1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPS8L1

SOURCE GeneReport for Unigene cluster for EPS8L1 Gene:

Hs.438862

mRNA Expression by UniProt/SwissProt for EPS8L1 Gene:

Q8TE68-ES8L1_HUMAN
Tissue specificity: Detected in placenta.

Evidence on tissue expression from TISSUES for EPS8L1 Gene

  • Skin(4.5)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with EPS8L1: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPS8L1 Gene

Orthologs for EPS8L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPS8L1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EPS8L1 29 30
  • 97.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EPS8L1 29 30
  • 84.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Eps8l1 29
  • 81.05 (n)
Mouse
(Mus musculus)
Mammalia Eps8l1 29 16 30
  • 80.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EPS8L1 29 30
  • 80.6 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 74 (a)
OneToMany
-- 30
  • 54 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia EPS8L1 30
  • 46 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100494819 29
  • 54.72 (n)
Zebrafish
(Danio rerio)
Actinopterygii EPS8L1 (1 of 2) 30
  • 39 (a)
OneToMany
eps8l1 30
  • 37 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG8907 30
  • 23 (a)
ManyToMany
aru 30
  • 21 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea eps-8 29 30
  • 45.81 (n)
OneToMany
Species where no ortholog for EPS8L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EPS8L1 Gene

ENSEMBL:
Gene Tree for EPS8L1 (if available)
TreeFam:
Gene Tree for EPS8L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPS8L1: view image
Alliance of Genome Resources:
Additional Orthologs for EPS8L1

Paralogs for EPS8L1 Gene

Paralogs for EPS8L1 Gene

(4) SIMAP similar genes for EPS8L1 Gene using alignment to 5 proteins:

  • ES8L1_HUMAN
  • B4DKV7_HUMAN
  • K7EKX9_HUMAN
  • K7ELW3_HUMAN
  • K7EN83_HUMAN
genes like me logo Genes that share paralogs with EPS8L1: view

Variants for EPS8L1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPS8L1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1054940 -- p.Lys669Arg
rs12609976 -- p.Ala4Thr
rs1620074 -- p.Arg288Gly
rs1628576 -- p.Gln457Glu
rs60073068 -- p.Leu703Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EPS8L1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EPS8L1 Gene

Variant ID Type Subtype PubMed ID
dgv1819n106 OTHER inversion 24896259
esv2667609 CNV deletion 23128226
esv2718872 CNV deletion 23290073
esv2718945 CNV deletion 23290073
esv2758772 CNV gain 17122850
esv29147 CNV loss 19812545
esv34356 CNV gain 17911159
esv3644829 CNV gain 21293372
esv3644836 CNV gain 21293372
esv3893251 CNV loss 25118596
nsv1079034 OTHER inversion 25765185
nsv1150276 OTHER inversion 26484159
nsv138118 CNV deletion 16902084
nsv817874 CNV loss 17921354
nsv817875 CNV loss 17921354

Variation tolerance for EPS8L1 Gene

Residual Variation Intolerance Score: 71.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.59; 97.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPS8L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPS8L1
Leiden Open Variation Database (LOVD)
EPS8L1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPS8L1 Gene

Disorders for EPS8L1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EPS8L1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EPS8L1

genes like me logo Genes that share disorders with EPS8L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPS8L1 Gene

Publications for EPS8L1 Gene

  1. In silico analysis of the EPS8 gene family: genomic organization, expression profile, and protein structure. (PMID: 12620401) Tocchetti A … Betsholtz C (Genomics 2003) 2 3 4
  2. Reciprocal regulation of SH3 and SH2 domain binding via tyrosine phosphorylation of a common site in CD3epsilon. (PMID: 17617578) Kesti T … Saksela K (Journal of immunology (Baltimore, Md. : 1950) 2007) 3 22
  3. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for EPS8L1 Gene

Sources for EPS8L1 Gene