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] See more...

Aliases for EPS8L3 Gene

Aliases for EPS8L3 Gene

  • EPS8 Like 3 2 3 5
  • Epidermal Growth Factor Receptor Pathway Substrate 8-Related Protein 3 3 4
  • Epidermal Growth Factor Receptor Kinase Substrate 8-Like Protein 3 3 4
  • EPS8-Related Protein 3 3 4
  • EPS8-Like Protein 3 3 4
  • EPS8R3 3 4
  • EPS8-Like 3 2

External Ids for EPS8L3 Gene

Previous GeneCards Identifiers for EPS8L3 Gene

  • GC01M109394
  • GC01M109591
  • GC01M110004
  • GC01M110292
  • GC01M108162

Summaries for EPS8L3 Gene

Entrez Gene Summary for EPS8L3 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. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

GeneCards Summary for EPS8L3 Gene

EPS8L3 (EPS8 Like 3) is a Protein Coding gene. Diseases associated with EPS8L3 include Marie Unna Congenital Hypotrichosis and Hypotrichosis. An important paralog of this gene is EPS8.

Gene Wiki entry for EPS8L3 Gene

Additional gene information for EPS8L3 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPS8L3 Gene

Genomics for EPS8L3 Gene

GeneHancer (GH) Regulatory Elements for EPS8L3 Gene

Promoters and enhancers for EPS8L3 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 EPS8L3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPS8L3 gene promoter:
  • AREB6
  • Cdc5
  • CUTL1
  • FOXO1
  • FOXO1a
  • LCR-F1
  • MyoD
  • MZF-1
  • Pax-3
  • STAT5A

Genomic Locations for EPS8L3 Gene

Genomic Locations for EPS8L3 Gene
chr1:109,750,080-109,764,027
(GRCh38/hg38)
Size:
13,948 bases
Orientation:
Minus strand
chr1:110,292,702-110,306,649
(GRCh37/hg19)
Size:
13,948 bases
Orientation:
Minus strand

Genomic View for EPS8L3 Gene

Genes around EPS8L3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPS8L3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPS8L3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPS8L3 Gene

Proteins for EPS8L3 Gene

  • Protein details for EPS8L3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE67-ES8L3_HUMAN
    Recommended name:
    Epidermal growth factor receptor kinase substrate 8-like protein 3
    Protein Accession:
    Q8TE67
    Secondary Accessions:
    • A8K833
    • Q5T8Q6
    • Q5T8Q7
    • Q5T8Q8
    • Q96E47
    • Q9H719

    Protein attributes for EPS8L3 Gene

    Size:
    593 amino acids
    Molecular mass:
    66861 Da
    Quaternary structure:
    • Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Interacts with FASLG.

    Three dimensional structures from OCA and Proteopedia for EPS8L3 Gene

    Alternative splice isoforms for EPS8L3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPS8L3 Gene

Post-translational modifications for EPS8L3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EPS8L3 Gene

Domains & Families for EPS8L3 Gene

Gene Families for EPS8L3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EPS8L3 Gene

GenScript: Design optimal peptide antigens:
  • Epidermal growth factor receptor pathway substrate 8-related protein 3 (ES8L3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TE67

UniProtKB/Swiss-Prot:

ES8L3_HUMAN :
  • Belongs to the EPS8 family.
Family:
  • Belongs to the EPS8 family.
genes like me logo Genes that share domains with EPS8L3: view

Function for EPS8L3 Gene

Phenotypes From GWAS Catalog for EPS8L3 Gene

Gene Ontology (GO) - Molecular Function for EPS8L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA 21873635
GO:0005515 protein binding IPI 14565974
GO:0030676 NOT Rac guanyl-nucleotide exchange factor activity IDA,IBA 14565974
GO:0051015 NOT actin filament binding IDA 14565974
genes like me logo Genes that share ontologies with EPS8L3: view
genes like me logo Genes that share phenotypes with EPS8L3: view

Human Phenotype Ontology for EPS8L3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPS8L3 Gene

MGI Knock Outs for EPS8L3:
  • Eps8l3 Eps8l3<tm1b(KOMP)Mbp>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS8L3

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for EPS8L3 Gene

Localization for EPS8L3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPS8L3 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 EPS8L3 gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EPS8L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 14565974
GO:0005886 plasma membrane IBA 21873635
GO:0032587 ruffle membrane IBA 21873635
genes like me logo Genes that share ontologies with EPS8L3: view

Pathways & Interactions for EPS8L3 Gene

PathCards logo

SuperPathways for EPS8L3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EPS8L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007266 Rho protein signal transduction IBA 21873635
GO:0035023 regulation of Rho protein signal transduction IBA 21873635
GO:0042634 regulation of hair cycle IMP 23099647
GO:1900029 positive regulation of ruffle assembly IBA 21873635
genes like me logo Genes that share ontologies with EPS8L3: view

No data available for Pathways by source and SIGNOR curated interactions for EPS8L3 Gene

Drugs & Compounds for EPS8L3 Gene

No Compound Related Data Available

Transcripts for EPS8L3 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS8L3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPS8L3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^
SP1: - - - - -
SP2: - - - - -
SP3: - - - -
SP4:
SP5:
SP6: - - -
SP7:
SP8: -
SP9:
SP10:
SP11: - - - -
SP12:

ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b
SP1:
SP2:
SP3:
SP4: - -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for EPS8L3 Gene

GeneLoc Exon Structure for
EPS8L3
ECgene alternative splicing isoforms for
EPS8L3

Expression for EPS8L3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPS8L3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPS8L3 Gene

This gene is overexpressed in Colon - Transverse (x25.8), Small Intestine - Terminal Ileum (x19.2), and Stomach (x4.6).

Protein differential expression in normal tissues from HIPED for EPS8L3 Gene

This gene is overexpressed in Fetal gut (32.2), Rectum (15.1), and Heart (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPS8L3 Gene



Protein tissue co-expression partners for EPS8L3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EPS8L3 Gene:

EPS8L3

SOURCE GeneReport for Unigene cluster for EPS8L3 Gene:

Hs.485352

Evidence on tissue expression from TISSUES for EPS8L3 Gene

  • Intestine(4.8)
  • Stomach(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPS8L3 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • nervous
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with EPS8L3: view

No data available for mRNA Expression by UniProt/SwissProt for EPS8L3 Gene

Orthologs for EPS8L3 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPS8L3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPS8L3 33 32
  • 99.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPS8L3 33 32
  • 82.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPS8L3 33 32
  • 80.65 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100912384 32
  • 79.66 (n)
mouse
(Mus musculus)
Mammalia Eps8l3 17 33 32
  • 79.1 (n)
oppossum
(Monodelphis domestica)
Mammalia EPS8L3 33
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPS8L3 33
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPS8L3 33
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eps8l3 32
  • 51.24 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-103a14.4 32
  • 48.77 (n)
eps8l3 33
  • 34 (a)
OneToMany
EPS8L3 (2 of 2) 33
  • 30 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta aru 33
  • 19 (a)
ManyToMany
CG8907 33
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea eps-8 33
  • 18 (a)
OneToMany
Species where no ortholog for EPS8L3 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)
  • 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 EPS8L3 Gene

ENSEMBL:
Gene Tree for EPS8L3 (if available)
TreeFam:
Gene Tree for EPS8L3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPS8L3: view image

Paralogs for EPS8L3 Gene

Paralogs for EPS8L3 Gene

genes like me logo Genes that share paralogs with EPS8L3: view

Variants for EPS8L3 Gene

Sequence variations from dbSNP and Humsavar for EPS8L3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000196742 -- 109,750,103(-) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000331195 -- 109,762,239(-) G/T intron_variant
rs1000385059 -- 109,762,533(-) A/G intron_variant
rs1000551931 -- 109,749,901(-) T/G downstream_transcript_variant
rs1000629057 -- 109,762,232(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EPS8L3 Gene

Variant ID Type Subtype PubMed ID
esv3439252 CNV duplication 20981092

Variation tolerance for EPS8L3 Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.38; 98.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPS8L3 Gene

Human Gene Mutation Database (HGMD)
EPS8L3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPS8L3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPS8L3 Gene

Disorders for EPS8L3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EPS8L3 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
marie unna congenital hypotrichosis
  • hypotrichosis, marie unna type
hypotrichosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EPS8L3

genes like me logo Genes that share disorders with EPS8L3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPS8L3 Gene

Publications for EPS8L3 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 56
  2. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4 56
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  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 56

Products for EPS8L3 Gene

Sources for EPS8L3 Gene