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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
  • Eps15R 4

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 Isolated Split Hand-Split Foot Malformation. Among its related pathways are EGF/EGFR Signaling Pathway and Clathrin-mediated endocytosis. Gene Ontology (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

Additional gene information for EPS15L1 Gene

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

Genomics for EPS15L1 Gene

GeneHancer (GH) Regulatory Elements for EPS15L1 Gene

Promoters and enhancers for EPS15L1 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
GH19J016469 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.8 786 3 HDGF ATF1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 EPS15L1 C19orf44 ENSG00000269044 TMEM38A ENSG00000267703 GC19M016221
GH19J016442 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 34.4 +25.2 25177 8.8 HDGF PKNOX1 SMAD1 MLX ARID4B FEZF1 IRF4 YY1 SLC30A9 ZNF766 EPS15L1 C19orf44 CHERP ENSG00000269578 ENSG00000141979 ENSG00000267904 ENSG00000268087 ENSG00000268743 TPM4 RAB8A
GH19J016568 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.7 -100.1 -100106 7.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B GC19P020156 SLC35E1 LOC105372295 C19orf44 CHERP TMEM38A SIN3B ENSG00000268743 ENSG00000269439 RN7SL146P
GH19J016323 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 +144.1 144083 9.1 PKNOX1 SIN3A ZNF121 GLIS2 ZNF213 ATF7 FOS REST MAFF GLIS1 KLF2 C19orf44 SIN3B CHERP ENSG00000269578 ENSG00000268743 EPS15L1 MED26 TMEM38A NR2F6
GH19J016607 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.4 -136.3 -136270 1.7 PKNOX1 ARNT INSM2 FEZF1 ZNF2 RAD21 YY1 ZNF366 ZSCAN5C RUNX3 C19orf44 EPS15L1 MED26 CALR3 SLC35E1 TMEM38A SMIM7 RN7SL146P CHERP CPAMD8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPS15L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPS15L1 gene promoter:
  • Hand1
  • E47
  • AhR
  • CUTL1
  • HSF1 (long)
  • HSF1short
  • Sox9
  • SRF (504 AA)
  • SRF

Genomic Locations for EPS15L1 Gene

Genomic Locations for EPS15L1 Gene
chr19:16,355,239-16,472,085
(GRCh38/hg38)
Size:
116,847 bases
Orientation:
Minus strand
chr19:16,466,050-16,582,896
(GRCh37/hg19)
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). Interacts with CAVIN3 (via leucine-zipper domain) (PubMed:19262564).

    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 isoforms=874, isoforms=851, Lys838, isoforms=2829, Lys701, isoforms=2, 3694, Lys683, isoforms=2, 3638, isoforms=2, 3632, Lys604, Lys534, and Lys531
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EPS15L1 Gene

Domains & Families for EPS15L1 Gene

Gene Families for EPS15L1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EPS15L1 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

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.

Phenotypes From GWAS Catalog for EPS15L1 Gene

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,IEA 16159959
GO:0045296 cadherin binding IDA 25468996
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EPS15L1: view
genes like me logo Genes that share phenotypes with EPS15L1: view

Human Phenotype Ontology for EPS15L1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 EPS15L1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EPS15L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005905 clathrin-coated pit IEA --
GO:0016020 membrane IEA,HDA 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

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:0061024 membrane organization 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:

Clone 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 CGAP 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, 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

Evidence on tissue expression from TISSUES for EPS15L1 Gene

  • Nervous system(4.5)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with EPS15L1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 97.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPS15L1 34 33
  • 91.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPS15L1 34 33
  • 89.45 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eps15l1 33
  • 87.24 (n)
mouse
(Mus musculus)
Mammalia Eps15l1 16 34 33
  • 86.99 (n)
oppossum
(Monodelphis domestica)
Mammalia EPS15L1 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPS15L1 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPS15L1 34 33
  • 78.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPS15L1 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eps15l1 33
  • 70.78 (n)
zebrafish
(Danio rerio)
Actinopterygii eps15l1a 34 33
  • 70.54 (n)
OneToMany
EPS15L1 (2 of 2) 34
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Eps-15 34 33
  • 50.85 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009189 33
  • 49.84 (n)
worm
(Caenorhabditis elegans)
Secernentea ehs-1 34 33
  • 41.14 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EDE1 34
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EPS15L1: view image

Paralogs for EPS15L1 Gene

Paralogs for EPS15L1 Gene

(4) SIMAP similar genes for EPS15L1 Gene using alignment to 10 proteins:

  • EP15R_HUMAN
  • A5PKY0_HUMAN
  • K7EJR2_HUMAN
  • M0QX30_HUMAN
  • M0QY01_HUMAN
  • M0R165_HUMAN
  • M0R1V5_HUMAN
  • M0R2S2_HUMAN
  • M0R330_HUMAN
  • M0R3I1_HUMAN
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 Variation AA Info Type
rs1000018160 -- 16,438,667(-) C/A intron_variant
rs1000023829 -- 16,401,119(-) C/T 3_prime_UTR_variant, intron_variant
rs1000089608 -- 16,437,377(-) A/G intron_variant
rs1000090623 -- 16,357,575(-) G/C genic_downstream_transcript_variant, intron_variant
rs1000111117 -- 16,371,482(-) G/A genic_downstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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

(1) MalaCards diseases for EPS15L1 Gene - From: Orphanet

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

Additional Disease Information for 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 (European journal of medical genetics 2011) 2 3 58
  2. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PMID: 22190364) Patsopoulos NA … de Bakker PI (Annals of neurology 2011) 3 44 58
  3. FCHo proteins are nucleators of clathrin-mediated endocytosis. (PMID: 20448150) Henne WM … McMahon HT (Science (New York, N.Y.) 2010) 3 4 58
  4. SRBC/cavin-3 is a caveolin adapter protein that regulates caveolae function. (PMID: 19262564) McMahon KA … Anderson RG (The EMBO journal 2009) 3 4 58
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58

Products for EPS15L1 Gene

Sources for EPS15L1 Gene

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