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Aliases for EPS15L1 Gene

Aliases for EPS15L1 Gene

  • Epidermal Growth Factor Receptor Pathway Substrate 15-Like 1 2 3 5
  • Eps15-Related Protein 3 4
  • EPS15R 3 4
  • Epidermal Growth Factor Receptor Substrate EPS15R 3

External Ids for EPS15L1 Gene

Previous GeneCards Identifiers for EPS15L1 Gene

  • GC19M016466
  • GC19M016041

Summaries for EPS15L1 Gene

GeneCards Summary for EPS15L1 Gene

EPS15L1 (Epidermal Growth Factor Receptor Pathway Substrate 15-Like 1) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and EGFR1 Signaling Pathway. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is ITSN1.

UniProtKB/Swiss-Prot for EPS15L1 Gene

  • Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2.

Gene Wiki entry for EPS15L1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPS15L1 Gene

Genomics for EPS15L1 Gene

Regulatory Elements for EPS15L1 Gene

Promoters for EPS15L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPS15L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPS15L1 Gene

Chromosome:
19
Start:
16,355,239 bp from pter
End:
16,472,085 bp from pter
Size:
116,847 bases
Orientation:
Minus strand

Genomic View for EPS15L1 Gene

Genes around EPS15L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPS15L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPS15L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPS15L1 Gene

Proteins for EPS15L1 Gene

  • Protein details for EPS15L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBC2-EP15R_HUMAN
    Recommended name:
    Epidermal growth factor receptor substrate 15-like 1
    Protein Accession:
    Q9UBC2
    Secondary Accessions:
    • A2RRF3
    • A5PL29
    • B4DKA3

    Protein attributes for EPS15L1 Gene

    Size:
    864 amino acids
    Molecular mass:
    94255 Da
    Quaternary structure:
    • Interacts with EPS15, AGFG1/HRB and AGFG2/HRBL. Associates with the clathrin-associated adapter protein complex 2 (AP-2) (By similarity). Interacts with FCHO1. Interacts with FCHO2. Interacts (via EH domains) with DAB2. Interacts with UBQLN1 (via ubiquitin-like domain).

    Alternative splice isoforms for EPS15L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPS15L1 Gene

Proteomics data for EPS15L1 Gene at MOPED

Post-translational modifications for EPS15L1 Gene

  • Phosphorylated on tyrosine residues by EGFR.
  • Ubiquitination at Lys 531, Lys 534, Lys 604, Lys 632, Lys 638, Lys 683, Lys 694, Lys 701, Lys 829, Lys 838, Lys 851, and Lys 874
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for EPS15L1 Gene

Domains & Families for EPS15L1 Gene

Gene Families for EPS15L1 Gene

Protein Domains for EPS15L1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBC2

UniProtKB/Swiss-Prot:

EP15R_HUMAN :
  • Contains 1 EF-hand domain.
Domain:
  • Contains 1 EF-hand domain.
  • Contains 3 EH domains.
genes like me logo Genes that share domains with EPS15L1: view

Function for EPS15L1 Gene

Molecular function for EPS15L1 Gene

UniProtKB/Swiss-Prot Function:
Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2.
genes like me logo Genes that share phenotypes with EPS15L1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EPS15L1 Gene

Localization for EPS15L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPS15L1 Gene

Cell membrane; Peripheral membrane protein. Nucleus. Membrane, coated pit. Note=Localized to plasma membrane coated pits. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPS15L1 Gene COMPARTMENTS Subcellular localization image for EPS15L1 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 2

Gene Ontology (GO) - Cellular Components for EPS15L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030132 clathrin coat of coated pit IEA --
genes like me logo Genes that share ontologies with EPS15L1: view

Pathways & Interactions for EPS15L1 Gene

genes like me logo Genes that share pathways with EPS15L1: view

Pathways by source for EPS15L1 Gene

1 BioSystems pathway for EPS15L1 Gene
3 Reactome pathways for EPS15L1 Gene
1 KEGG pathway for EPS15L1 Gene

Gene Ontology (GO) - Biological Process for EPS15L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with EPS15L1: view

No data available for SIGNOR curated interactions for EPS15L1 Gene

Drugs & Compounds for EPS15L1 Gene

(1) Drugs for EPS15L1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EPS15L1: view

Transcripts for EPS15L1 Gene

Unigene Clusters for EPS15L1 Gene

Epidermal growth factor receptor pathway substrate 15-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EPS15L1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for EPS15L1 Gene

GeneLoc Exon Structure for
EPS15L1
ECgene alternative splicing isoforms for
EPS15L1

Expression for EPS15L1 Gene

mRNA expression in normal human tissues for EPS15L1 Gene

mRNA differential expression in normal tissues according to GTEx for EPS15L1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for EPS15L1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.7) and Lymph node (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPS15L1 Gene



SOURCE GeneReport for Unigene cluster for EPS15L1 Gene Hs.744842

genes like me logo Genes that share expression patterns with EPS15L1: view

Protein tissue co-expression partners for EPS15L1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for EPS15L1 Gene

Orthologs for EPS15L1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EPS15L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EPS15L1 35
  • 89.45 (n)
  • 93.99 (a)
EPS15L1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPS15L1 35
  • 91.98 (n)
  • 95.71 (a)
EPS15L1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eps15l1 35
  • 86.99 (n)
  • 92.83 (a)
Eps15l1 16
Eps15l1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPS15L1 35
  • 97.83 (n)
  • 97.57 (a)
EPS15L1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eps15l1 35
  • 87.24 (n)
  • 93.74 (a)
oppossum
(Monodelphis domestica)
Mammalia EPS15L1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPS15L1 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPS15L1 35
  • 78.29 (n)
  • 85.05 (a)
EPS15L1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPS15L1 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eps15l1 35
  • 70.78 (n)
  • 77.55 (a)
zebrafish
(Danio rerio)
Actinopterygii eps15l1a 35
  • 70.54 (n)
  • 74.38 (a)
EPS15L1 (2 of 2) 36
  • 52 (a)
OneToMany
eps15l1a 36
  • 72 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009189 35
  • 49.84 (n)
  • 43.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta Eps-15 35
  • 50.85 (n)
  • 44.58 (a)
Eps-15 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ehs-1 35
  • 41.14 (n)
  • 34.51 (a)
ehs-1 36
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EDE1 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToMany
Species with no ortholog for EPS15L1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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 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 EPS15L1 Gene

ENSEMBL:
Gene Tree for EPS15L1 (if available)
TreeFam:
Gene Tree for EPS15L1 (if available)

Paralogs for EPS15L1 Gene

Paralogs for EPS15L1 Gene

genes like me logo Genes that share paralogs with EPS15L1: view

Variants for EPS15L1 Gene

Sequence variations from dbSNP and Humsavar for EPS15L1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs36717 -- 16,460,241(-) AGTGG(C/T)GCCAT intron-variant
rs36718 -- 16,457,480(-) GTCTC(C/T)GGCAC intron-variant
rs36719 -- 16,456,956(-) CCCCA(G/T)GTTCT intron-variant
rs36720 -- 16,456,540(-) agctg(A/G)gatta intron-variant
rs36721 -- 16,455,090(-) GTGCA(A/G)TGATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPS15L1 Gene

Variant ID Type Subtype PubMed ID
nsv911166 CNV Loss 21882294
esv2667853 CNV Deletion 23128226

Variation tolerance for EPS15L1 Gene

Residual Variation Intolerance Score: 6.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPS15L1 Gene

HapMap Linkage Disequilibrium report
EPS15L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPS15L1 Gene

Disorders for EPS15L1 Gene

Relevant External Links for EPS15L1

Genetic Association Database (GAD)
EPS15L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPS15L1

No disorders were found for EPS15L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EPS15L1 Gene

Publications for EPS15L1 Gene

  1. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PMID: 22190364) Patsopoulos N.A. … de Bakker P.I. (Ann. Neurol. 2011) 3 48 67
  2. Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery. (PMID: 11381094) Martina J.A. … Bonifacino J.S. (J. Cell Biol. 2001) 3 23
  3. The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport. (PMID: 10613896) Doria M. … Di Fiore P.P. (J. Cell Biol. 1999) 3 23
  4. Eps15R is a tyrosine kinase substrate with characteristics of a docking protein possibly involved in coated pits-mediated internalization. (PMID: 9446614) Coda L. … Di Fiore P.P. (J. Biol. Chem. 1998) 3 23
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for EPS15L1 Gene

Sources for EPS15L1 Gene

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