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Aliases for EPS8L1 Gene

Aliases for EPS8L1 Gene

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

External Ids for EPS8L1 Gene

Previous GeneCards Identifiers for EPS8L1 Gene

  • GC19P060259
  • GC19P060275
  • GC19P055583
  • GC19P051911

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. 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 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

Additional gene information for EPS8L1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPS8L1 Gene

Genomics for EPS8L1 Gene

GeneHancer (GH) Regulatory Elements for EPS8L1 Gene

Promoters and enhancers for EPS8L1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I055079 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 585.1 +8.8 8848 2.6 HDGF PKNOX1 CLOCK ATF1 ARNT DMAP1 ZNF48 POLR2B GLIS2 KLF7 EPS8L1 RDH13 GC19M055111
GH19I055068 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 588.1 -1.5 -1498 3.1 PKNOX1 CLOCK ATF1 SIN3A BRCA1 GLIS2 FOS ATF7 DEK REST EPS8L1 RDH13 ENSG00000267149
GH19I055075 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 580.8 +4.1 4096 2.1 PKNOX1 SIN3A ZMYM3 CDC5L ZNF664 CTBP1 POLR2A ZNF143 EZH2 RFX1 EPS8L1 RDH13 GP6 TNNT1 GC19M055111
GH19I055111 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29.6 +43.4 43363 8 HDGF ARNT ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 YY1 POLR2B PPP1R12C GC19M055111 EPS8L1 RDH13 U2AF2 LENG8-AS1 LENG8 ENSG00000235681 CNOT3 ENSG00000267523
GH19I055086 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +15.8 15798 2.5 HNRNPUL1 CTCF MXI1 KLF1 MAX RAD21 POLR2A VEZF1 ZNF143 SMC3 EPS8L1 ZNF581 CNOT3 LENG8-AS1 LENG8 U2AF2 PPP1R12C LENG1 ZNF628 GP6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPS8L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPS8L1 gene promoter:

Genomic Locations for EPS8L1 Gene

Genomic Locations for EPS8L1 Gene
chr19:55,072,020-55,087,923
(GRCh38/hg38)
Size:
15,904 bases
Orientation:
Plus strand
chr19:55,583,388-55,599,291
(GRCh37/hg19)

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; Positions=596; 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

No Post-translational modifications

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
  • Predicted secreted proteins

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.

Gene Ontology (GO) - Molecular Function for EPS8L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 14565974
GO:0005089 contributes_to Rho guanyl-nucleotide exchange factor activity IDA 14565974
GO:0005515 protein binding IPI 14565974
GO:0016301 kinase activity IEA --
GO:0030676 contributes_to Rac guanyl-nucleotide exchange factor activity IDA 14565974
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:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
extracellular 5
cytosol 5
nucleus 2

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:0032587 ruffle membrane IDA 14565974
GO:0043234 protein complex IDA 14565974
GO:0070062 extracellular exosome HDA,IDA 19056867
genes like me logo Genes that share ontologies with EPS8L1: view

Pathways & Interactions for EPS8L1 Gene

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 IDA 14565974
GO:0016310 phosphorylation IEA --
GO:0035023 regulation of Rho protein signal transduction IDA 14565974
GO:0065009 regulation of molecular function IEA --
GO:1900029 positive regulation of ruffle assembly 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

Unigene Clusters for EPS8L1 Gene

EPS8-like 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
EPS8L1

Expression for EPS8L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for EPS8L1 Gene



NURSA nuclear receptor signaling pathways regulating expression of EPS8L1 Gene:

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(4.4)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with EPS8L1: view

Primer Products

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 33 34
  • 97.94 (n)
dog
(Canis familiaris)
Mammalia EPS8L1 33 34
  • 84.48 (n)
rat
(Rattus norvegicus)
Mammalia Eps8l1 33
  • 81.05 (n)
mouse
(Mus musculus)
Mammalia Eps8l1 33 16 34
  • 80.87 (n)
cow
(Bos Taurus)
Mammalia EPS8L1 33 34
  • 80.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia EPS8L1 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494819 33
  • 54.72 (n)
zebrafish
(Danio rerio)
Actinopterygii EPS8L1 (1 of 2) 34
  • 39 (a)
OneToMany
eps8l1 34
  • 37 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8907 34
  • 23 (a)
ManyToMany
aru 34
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea eps-8 33 34
  • 45.81 (n)
Species where no ortholog for EPS8L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for EPS8L1 Gene

Paralogs for EPS8L1 Gene

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

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

Variants for EPS8L1 Gene

Sequence variations from dbSNP and Humsavar for EPS8L1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000031194 -- 55,077,635(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000425571 -- 55,080,277(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1000469249 -- 55,082,095(+) G/A coding_sequence_variant, missense_variant
rs1000579466 -- 55,076,027(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000654353 -- 55,084,468(+) C/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

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

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

Disorders for EPS8L1 Gene

Additional Disease Information for EPS8L1

No disorders were found for EPS8L1 Gene.

No data available for MalaCards , 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 58
  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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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 58
  5. 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 58

Products for EPS8L1 Gene

Sources for EPS8L1 Gene

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