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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
  • 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EEPD1 Gene

Genomics for EEPD1 Gene

Regulatory Elements for EEPD1 Gene

Enhancers for EEPD1 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
GH07H036261 1.7 FANTOM5 Ensembl ENCODE dbSUPER 36.8 +110.5 110538 5.4 ELF3 FOXA2 MAX BMI1 ZFHX2 GATA3 POLR2A FOS ATF7 PRDM10 EEPD1 AOAH SEPT7 ENSG00000229679 ENSG00000234457
GH07H036276 1.9 FANTOM5 Ensembl ENCODE dbSUPER 28.3 +129.6 129566 12.6 PKNOX1 FOXA2 MLX ARID4B DMAP1 TCF12 ZNF121 SLC30A9 FOS ATF7 EEPD1 AOAH ENSG00000260070 SEPT7 ENSG00000234457 ENSG00000229679
GH07H036204 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.1 +55.0 54953 6.4 CTCF FOXA2 ZMYM3 MAX ZNF384 RAD21 RARA YY1 ZNF316 HNF4G EEPD1 PIR43546 PIR39521
GH07H036190 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +39.0 38952 3.4 HLF MAX REST RAD21 POLR2A IKZF1 GLIS1 FOS RUNX3 IKZF2 EEPD1 HERPUD2 PIR39521 PIR31290
GH07H036126 1.2 Ensembl ENCODE 19.4 -25.0 -24965 2.8 FOXA2 SIN3A RAD21 YY1 ZNF366 ZSCAN5C SCRT2 SMARCC2 FOS SMARCC1 EEPD1 MARK2P13 LOC101928618 MARK2P7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EEPD1 on UCSC Golden Path with GeneCards custom track

Promoters for EEPD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000210881 52 2000 HDGF FOXA2 MLX ARID4B SIN3A ZBTB7B YY1 GLIS2 ZNF143 ATF7

Genomic Locations for EEPD1 Gene

Genomic Locations for EEPD1 Gene
chr7:36,153,149-36,301,543
(GRCh38/hg38)
Size:
148,395 bases
Orientation:
Plus strand
chr7:36,192,758-36,341,152
(GRCh37/hg19)

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:
    Q7L9B9-EEPD1_HUMAN
    Recommended name:
    Endonuclease/exonuclease/phosphatase family domain-containing protein 1
    Protein Accession:
    Q7L9B9
    Secondary Accessions:
    • Q96K64
    • Q9C0F7

    Protein attributes for EEPD1 Gene

    Size:
    569 amino acids
    Molecular mass:
    62403 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB21797.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EEPD1: view

No data available for 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

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

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 EEPD1 gene
Compartment Confidence
nucleus 3
mitochondrion 1
peroxisome 1
cytosol 1

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

SuperPathways for EEPD1 Gene

No Data Available

Interacting Proteins for EEPD1 Gene

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

Unigene Clusters for EEPD1 Gene

Endonuclease/exonuclease/phosphatase family domain containing 1:
Representative Sequences:

Clone Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2:

Relevant External Links for EEPD1 Gene

GeneLoc Exon Structure for
EEPD1
ECgene alternative splicing isoforms for
EEPD1

Expression for EEPD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of EEPD1 Gene:

EEPD1

SOURCE GeneReport for Unigene cluster for EEPD1 Gene:

Hs.487994

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
chimpanzee
(Pan troglodytes)
Mammalia EEPD1 33 34
  • 99.12 (n)
cow
(Bos Taurus)
Mammalia EEPD1 33 34
  • 89.51 (n)
dog
(Canis familiaris)
Mammalia EEPD1 33 34
  • 89.28 (n)
rat
(Rattus norvegicus)
Mammalia Eepd1 33
  • 85.53 (n)
mouse
(Mus musculus)
Mammalia Eepd1 33 16 34
  • 85.47 (n)
oppossum
(Monodelphis domestica)
Mammalia EEPD1 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EEPD1 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves EEPD1 33 34
  • 77.18 (n)
lizard
(Anolis carolinensis)
Reptilia EEPD1 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100127792 33
  • 68.98 (n)
zebrafish
(Danio rerio)
Actinopterygii eepd1 33 34
  • 64.72 (n)
Dr.3074 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5547 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
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

ENSEMBL:
Gene Tree for EEPD1 (if available)
TreeFam:
Gene Tree for EEPD1 (if available)

Paralogs for EEPD1 Gene

No data available for Paralogs for EEPD1 Gene

Variants for EEPD1 Gene

Sequence variations from dbSNP and Humsavar for EEPD1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000011213 -- 36,228,028(+) TCGCT(C/T)GAGCC intron-variant
rs1000013117 -- 36,191,917(+) CCCTG(C/T)TACAT intron-variant
rs1000047791 -- 36,269,693(+) GAGTT(C/T)AAGAG intron-variant
rs1000115245 -- 36,185,769(+) GGTTT(C/T)GTTTT intron-variant
rs1000141587 -- 36,228,060(+) GGCAA(C/T)ACAGT intron-variant

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

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

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)

Relevant External Links for EEPD1 Gene

Human Gene Mutation Database (HGMD)
EEPD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EEPD1

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

Disorders for EEPD1 Gene

Relevant External Links for EEPD1

Genetic Association Database (GAD)
EEPD1
Human Genome Epidemiology (HuGE) Navigator
EEPD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EEPD1

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 60
  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 45 60
  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 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 60

Products for EEPD1 Gene

Sources for EEPD1 Gene

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