Aliases for EEPD1 Gene

Aliases for EEPD1 Gene

  • Endonuclease/Exonuclease/Phosphatase Family Domain Containing 1 2 3 5
  • Endonuclease/Exonuclease/Phosphatase Family Domain-Containing Protein 1 3 4
  • KIAA1706 4
  • HSPC107 3

External Ids for EEPD1 Gene

Previous GeneCards Identifiers for EEPD1 Gene

  • GC07P036161
  • GC07P036073
  • GC07P036192

Summaries for EEPD1 Gene

GeneCards Summary for EEPD1 Gene

EEPD1 (Endonuclease/Exonuclease/Phosphatase Family Domain Containing 1) is a Protein Coding gene.

Additional gene information for EEPD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EEPD1 Gene

Genomics for EEPD1 Gene

GeneHancer (GH) Regulatory Elements for EEPD1 Gene

Promoters and enhancers for EEPD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J036151 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 507.7 +1.1 1132 5.3 EP300 NRF1 USF1 POLR2G NCOR1 PHF8 ZIC2 POLR2A ZNF623 ZNF423 EEPD1 ENSG00000261184 RF00017-6116
GH07J036276 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 28.3 +129.5 129488 12.6 FOXK2 CTCF TCF12 NCOR1 JUND FOS EP300 ZIC2 REST KDM6A EEPD1 AOAH ENSG00000260070 SEPTIN7 HSALNG0057258 piR-33804-084
GH07J036261 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 36.8 +110.3 110313 5.1 EP300 TCF7 FOXA2 NFIC ARNT RBM22 NBN SPI1 JUND ZFHX2 EEPD1 AOAH SEPTIN7 RF00017-6118 piR-33804-084
GH07J036202 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 24.1 +56.6 56574 18.8 CTCF TCF12 USF1 GTF2E2 FOS ZBTB11 CTBP1 SKI MYC TEAD1 piR-32547 EEPD1 ENSG00000260070 piR-48749-043
GH07J036175 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.6 +29.7 29674 24.6 NRF1 FOS EP300 MEF2C TRIM22 NR2F2 GATA3 USF1 ARNT MEF2B EEPD1 HERPUD2 RF00017-6117 piR-30291 piR-46522
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EEPD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EEPD1

Top Transcription factor binding sites by QIAGEN in the EEPD1 gene promoter:
  • AREB6
  • CREB
  • deltaCREB
  • GCNF
  • GCNF-1
  • GCNF-2
  • HOXA9
  • Meis-1a
  • Pax-4a
  • Roaz

Genomic Locations for EEPD1 Gene

Genomic Locations for EEPD1 Gene
148,317 bases
Plus strand
148,395 bases
Plus strand

Genomic View for EEPD1 Gene

Genes around EEPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EEPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EEPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EEPD1 Gene

Proteins for EEPD1 Gene

  • Protein details for EEPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Endonuclease/exonuclease/phosphatase family domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q96K64
    • Q9C0F7

    Protein attributes for EEPD1 Gene

    569 amino acids
    Molecular mass:
    62403 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB21797.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for EEPD1 Gene

Post-translational modifications for EEPD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EEPD1 Gene

No data available for DME Specific Peptides for EEPD1 Gene

Domains & Families for EEPD1 Gene

Gene Families for EEPD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EEPD1 Gene

GenScript: Design optimal peptide antigens:
  • Endonuclease/exonuclease/phosphatase family domain-containing protein 1 (EEPD1_HUMAN)
genes like me logo Genes that share domains with EEPD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for EEPD1 Gene

Function for EEPD1 Gene

Phenotypes From GWAS Catalog for EEPD1 Gene

Gene Ontology (GO) - Molecular Function for EEPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with EEPD1: view
genes like me logo Genes that share phenotypes with EEPD1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EEPD1 Gene

Localization for EEPD1 Gene

Subcellular locations from

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 EEPD1 gene
Compartment Confidence
nucleus 3
mitochondrion 0
peroxisome 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EEPD1 Gene

Pathways & Interactions for EEPD1 Gene

PathCards logo

SuperPathways for EEPD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EEPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
genes like me logo Genes that share ontologies with EEPD1: view

No data available for Pathways by source and SIGNOR curated interactions for EEPD1 Gene

Drugs & Compounds for EEPD1 Gene

No Compound Related Data Available

Transcripts for EEPD1 Gene

mRNA/cDNA for EEPD1 Gene

6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EEPD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9

Relevant External Links for EEPD1 Gene

GeneLoc Exon Structure for

Expression for EEPD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EEPD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EEPD1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.6).

Protein differential expression in normal tissues from HIPED for EEPD1 Gene

This gene is overexpressed in Neutrophil (32.2) and Liver (26.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EEPD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EEPD1

SOURCE GeneReport for Unigene cluster for EEPD1 Gene:


Evidence on tissue expression from TISSUES for EEPD1 Gene

  • Blood(4.7)
  • Nervous system(4.7)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with EEPD1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EEPD1 Gene

Orthologs for EEPD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EEPD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EEPD1 31 30
  • 99.12 (n)
(Bos Taurus)
Mammalia EEPD1 31 30
  • 89.51 (n)
(Canis familiaris)
Mammalia EEPD1 31 30
  • 89.28 (n)
(Rattus norvegicus)
Mammalia Eepd1 30
  • 85.53 (n)
(Mus musculus)
Mammalia Eepd1 17 31 30
  • 85.47 (n)
(Monodelphis domestica)
Mammalia EEPD1 31
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia EEPD1 31
  • 69 (a)
(Gallus gallus)
Aves EEPD1 31 30
  • 77.18 (n)
(Anolis carolinensis)
Reptilia EEPD1 31
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100127792 30
  • 68.98 (n)
(Danio rerio)
Actinopterygii eepd1 31 30
  • 64.72 (n)
Dr.3074 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5547 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
Species where no ortholog for EEPD1 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for EEPD1 Gene

Gene Tree for EEPD1 (if available)
Gene Tree for EEPD1 (if available)
Evolutionary constrained regions (ECRs) for EEPD1: view image

Paralogs for EEPD1 Gene

No data available for Paralogs for EEPD1 Gene

Variants for EEPD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EEPD1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs196586 - p.Ser343Asn
rs196594 - p.Pro416Ser
rs3815682 - p.Ala358Ser

Additional dbSNP identifiers (rs#s) for EEPD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for EEPD1 Gene

Variant ID Type Subtype PubMed ID
dgv1885e212 CNV loss 25503493
esv1027321 CNV insertion 17803354
esv2667670 CNV deletion 23128226
esv2734252 CNV deletion 23290073
esv3541476 CNV deletion 23714750
esv3576307 CNV gain 25503493
esv3612830 CNV loss 21293372
nsv1140763 CNV deletion 24896259
nsv478617 CNV novel sequence insertion 20440878
nsv519219 CNV gain 19592680
nsv528312 CNV loss 19592680
nsv830956 CNV loss 17160897
nsv970464 CNV duplication 23825009

Variation tolerance for EEPD1 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.90; 48.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EEPD1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EEPD1 Gene

Disorders for EEPD1 Gene

Additional Disease Information for EEPD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for EEPD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EEPD1 Gene

Publications for EEPD1 Gene

  1. EEPD1 Rescues Stressed Replication Forks and Maintains Genome Stability by Promoting End Resection and Homologous Recombination Repair. (PMID: 26684013) Wu Y … Hromas RA (PLoS genetics 2015) 2 3 54
  2. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PMID: 21507922) Ramsuran V … Ndung'u T (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2011) 3 41 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 54

Products for EEPD1 Gene

Sources for EEPD1 Gene