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Aliases for EEPD1 Gene

Aliases for EEPD1 Gene

  • Endonuclease/Exonuclease/Phosphatase Family Domain Containing 1 2 3 5
  • 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.

No data available for Entrez Gene 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

Promoters for EEPD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EEPD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EEPD1 Gene

Chromosome:
7
Start:
36,153,149 bp from pter
End:
36,301,543 bp from pter
Size:
148,395 bases
Orientation:
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:
    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

Proteomics data for EEPD1 Gene at MOPED

Post-translational modifications for EEPD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EEPD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EEPD1 Gene

Domains & Families for EEPD1 Gene

Suggested Antigen Peptide Sequences for EEPD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q7L9B9

UniProtKB/Swiss-Prot:

EEPD1_HUMAN :
  • Contains 1 HhH domain.
Domain:
  • Contains 1 HhH domain.
genes like me logo Genes that share domains with EEPD1: view

No data available for Gene Families for EEPD1 Gene

Function for EEPD1 Gene

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

Animal Model Products

CRISPR Products

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

Localization for EEPD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EEPD1 Gene COMPARTMENTS Subcellular localization image for EEPD1 gene
Compartment Confidence
nucleus 3
cytosol 1
mitochondrion 1
peroxisome 1

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

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000242108%0d%0a9606.ENSP00000418287%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000242108 for EEPD1 Gene via STRING

Gene Ontology (GO) - Biological Process for EEPD1 Gene

None

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:

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 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, PaxDb, MOPED, and MaxQB for EEPD1 Gene



SOURCE GeneReport for Unigene cluster for EEPD1 Gene Hs.487994

genes like me logo Genes that share expression patterns with EEPD1: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia EEPD1 35
  • 89.51 (n)
  • 93.5 (a)
EEPD1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EEPD1 35
  • 89.28 (n)
  • 93.67 (a)
EEPD1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eepd1 35
  • 85.47 (n)
  • 90.69 (a)
Eepd1 16
Eepd1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EEPD1 35
  • 99.12 (n)
  • 99.47 (a)
EEPD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eepd1 35
  • 85.53 (n)
  • 91.21 (a)
oppossum
(Monodelphis domestica)
Mammalia EEPD1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EEPD1 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves EEPD1 35
  • 77.18 (n)
  • 81.72 (a)
EEPD1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EEPD1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100127792 35
  • 68.98 (n)
  • 68.34 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.3074 35
eepd1 35
  • 64.72 (n)
  • 64.3 (a)
eepd1 36
  • 64 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5547 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToOne
Species with no ortholog for EEPD1:
  • 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
rs3815682 - 36,284,716(+) GGGAC(A/G/T)CGGCT reference, missense
rs196594 - 36,287,708(+) AGAAT(C/T)CCAGC reference, missense
rs196586 - 36,281,212(+) CTCGA(A/G)TCAGC reference, missense
rs2516 -- 36,299,660(+) AGGCA(C/G)TCTGC utr-variant-3-prime
rs10848 -- 36,299,517(+) CACAA(A/C/G)GACAA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2667670 CNV Deletion 23128226
esv267388 CNV Insertion 20981092
esv274025 CNV Insertion 20981092
esv1027321 CNV Insertion 17803354
nsv528312 CNV Loss 19592680
nsv830956 CNV Loss 17160897
esv2734252 CNV Deletion 23290073
nsv519219 CNV Gain 19592680

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

HapMap Linkage Disequilibrium report
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. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PMID: 21507922) Ramsuran V. … Ndung'u T. (Clin. Infect. Dis. 2011) 3 48 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins. (PMID: 23891004) Stehling O. … Lill R. (Cell Metab. 2013) 3
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for EEPD1 Gene

Sources for EEPD1 Gene

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