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    EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 80820, updated on 27-Nov-2024

    Summary

    Official Symbol
    EEPD1provided by HGNC
    Official Full Name
    endonuclease/exonuclease/phosphatase family domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:22223
    See related
    Ensembl:ENSG00000122547 MIM:617192; AllianceGenome:HGNC:22223
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSPC107
    Summary
    Predicted to enable DNA binding activity and catalytic activity. Involved in positive regulation of cholesterol efflux. Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 7.4), brain (RPKM 4.8) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See EEPD1 in Genome Data Viewer
    Location:
    7p14.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (36153254..36301538)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (36294234..36442799)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (36192863..36341147)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:36159338-36159873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:36159874-36160408 Neighboring gene MARK2 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18100 Neighboring gene NANOG hESC enhancer GRCh37_chr7:36197697-36198217 Neighboring gene MARK2 pseudogene 7 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36254183-36255020 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36255021-36255856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:36285803-36286305 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36297422-36298230 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36298231-36299037 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36320693-36321354 Neighboring gene Sharpr-MPRA regulatory region 9097 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36351141-36351658 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:36399716-36400433 Neighboring gene microtubule associated tyrosine carboxypeptidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18101 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:36429116-36429706 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:36429707-36430297 Neighboring gene anillin, actin binding protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:36544967-36546166 Neighboring gene NFE2L2 motif-containing MPRA enhancer 148 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98398 Neighboring gene acyloxyacyl hydrolase Neighboring gene AOAH intronic transcript 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1706

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cholesterol efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    endonuclease/exonuclease/phosphatase family domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_030636.3NP_085139.2  endonuclease/exonuclease/phosphatase family domain-containing protein 1

      See identical proteins and their annotated locations for NP_085139.2

      Status: VALIDATED

      Source sequence(s)
      AC007327, AK027386, DN998549
      Consensus CDS
      CCDS34619.1
      UniProtKB/Swiss-Prot
      Q7L9B9, Q96K64, Q9C0F7
      Related
      ENSP00000242108.4, ENST00000242108.9
      Conserved Domains (4) summary
      cd10283
      Location:261538
      MnuA_DNase1-like; Mycoplasma pulmonis MnuA nuclease-like
      TIGR01259
      Location:69195
      comE; comEA protein
      COG1555
      Location:31100
      ComEA; DNA uptake protein ComE and related DNA-binding proteins [Replication, recombination and repair]
      pfam12836
      Location:3795
      HHH_3; Helix-hairpin-helix motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      36153254..36301538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      36294234..36442799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)