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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 Pathway Substrate 15-Like 1 2
  • Epidermal Growth Factor Receptor Substrate 15-Like 1 3
  • 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. Diseases associated with EPS15L1 include Split Hand-Split Foot Malformation and Split Foot. Among its related pathways are Vesicle-mediated transport and EGFR downregulation. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EPS15.

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

Enhancers for EPS15L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F016442 1.4 FANTOM5 Ensembl ENCODE 34.3 +25.3 25285 9.2 HDGF PKNOX1 MLX WRNIP1 SIN3A ARID4B FEZF1 YY1 SLC30A9 ZNF143 EPS15L1 C19orf44 ENSG00000141979 RAB8A MED26 HSH2D SMIM7 GTPBP3 KLF2 ENSG00000267703
GH19F016607 1.1 Ensembl ENCODE 18.5 -141.8 -141816 13.0 HDGF PKNOX1 FEZF1 ZNF2 REST TSHZ1 ZNF623 TBX21 MYNN PBX2 C19orf44 EPS15L1 SMIM7 CALR3 SLC35E1 TMEM38A CHERP RN7SL146P CPAMD8 ENSG00000269044
GH19F016396 1.6 FANTOM5 Ensembl ENCODE 17.7 +73.6 73629 3.4 ZNF121 FOXJ2 ZNF18 EPS15L1 KLF2 AP1M1 C19orf44 ENSG00000269044 GTPBP3 RAB8A MED26 HSH2D GC19M016398
GH19F016420 0.2 ENCODE 11.4 +51.6 51561 0.2 TRIM24 EPS15L1 GTPBP3 RPS2P51 GC19P019207
GH19F016421 0.2 ENCODE 11.4 +51.1 51108 0.6 POLR2A EPS15L1 GTPBP3 RPS2P51 GC19P019207
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around EPS15L1 on UCSC Golden Path with GeneCards custom track

Promoters for EPS15L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001647013 285 2000 HDGF ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 CBX5 KDM4B ZNF263

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

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

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.

Gene Ontology (GO) - Molecular Function for EPS15L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 16159959
GO:0046872 metal ion binding IEA --
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with EPS15L1: view
genes like me logo Genes that share phenotypes with EPS15L1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005634 nucleus IEA --
GO:0005886 plasma membrane TAS --
GO:0005905 clathrin-coated pit IEA --
GO:0005913 cell-cell adherens junction IDA 25468996
GO:0016020 membrane IEA,IDA 19946888
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 KEGG pathway for EPS15L1 Gene

Gene Ontology (GO) - Biological Process for EPS15L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway TAS --
GO:0098609 cell-cell adhesion IEA --
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for EPS15L1 Gene



Protein tissue co-expression partners for EPS15L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EPS15L1 Gene:

EPS15L1

SOURCE GeneReport for Unigene cluster for EPS15L1 Gene:

Hs.744842
genes like me logo Genes that share expression patterns with EPS15L1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia EPS15L1 34 35
  • 97.83 (n)
dog
(Canis familiaris)
Mammalia EPS15L1 34 35
  • 91.98 (n)
cow
(Bos Taurus)
Mammalia EPS15L1 34 35
  • 89.45 (n)
rat
(Rattus norvegicus)
Mammalia Eps15l1 34
  • 87.24 (n)
mouse
(Mus musculus)
Mammalia Eps15l1 34 16 35
  • 86.99 (n)
oppossum
(Monodelphis domestica)
Mammalia EPS15L1 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPS15L1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPS15L1 34 35
  • 78.29 (n)
lizard
(Anolis carolinensis)
Reptilia EPS15L1 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eps15l1 34
  • 70.78 (n)
zebrafish
(Danio rerio)
Actinopterygii eps15l1a 34 35
  • 70.54 (n)
EPS15L1 (2 of 2) 35
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Eps-15 34 35
  • 50.85 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009189 34
  • 49.84 (n)
worm
(Caenorhabditis elegans)
Secernentea ehs-1 34 35
  • 41.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EDE1 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
Species where no ortholog for EPS15L1 was found in the sources mined by GeneCards:
  • 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
rs1003113 -- 16,406,783(+) AAGAG(G/T)CATGA intron-variant
rs1009904 -- 16,399,112(+) GACAG(C/T)CAGGC intron-variant
rs1017690 -- 16,422,246(-) GGCCC(G/T)GGTTG intron-variant
rs10221451 -- 16,464,120(+) TGACC(C/T)GCAGG intron-variant
rs10221523 -- 16,463,788(+) ACAGA(A/G)ATGCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1023e212 CNV loss 25503493
esv2667853 CNV deletion 23128226
nsv1079033 OTHER inversion 25765185
nsv1110925 OTHER inversion 24896259
nsv1116305 CNV deletion 24896259
nsv1123227 CNV deletion 24896259
nsv1134760 CNV deletion 24896259
nsv960805 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPS15L1

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

Disorders for EPS15L1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EPS15L1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
split hand-split foot malformation
  • ectrodactyly
split foot
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for EPS15L1

Genetic Association Database (GAD)
EPS15L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPS15L1
genes like me logo Genes that share disorders with EPS15L1: view

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

Publications for EPS15L1 Gene

  1. A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation. (PMID: 21700002) Bens S. … Caliebe A. (Eur J Med Genet 2011) 2 3 64
  2. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PMID: 22190364) Patsopoulos N.A. … de Bakker P.I. (Ann. Neurol. 2011) 3 46 64
  3. FCHo proteins are nucleators of clathrin-mediated endocytosis. (PMID: 20448150) Henne W.M. … McMahon H.T. (Science 2010) 3 4 64
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  5. Ubiquilin recruits Eps15 into ubiquitin-rich cytoplasmic aggregates via a UIM-UBL interaction. (PMID: 16159959) Regan-Klapisz E. … van Bergen en Henegouwen P.M. (J. Cell. Sci. 2005) 3 4 64

Products for EPS15L1 Gene

Sources for EPS15L1 Gene

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