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    Eepd1 endonuclease/exonuclease/phosphatase family domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 67484, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Eepd1provided by MGI
    Official Full Name
    endonuclease/exonuclease/phosphatase family domain containing 1provided by MGI
    Primary source
    MGI:MGI:1914734
    See related
    Ensembl:ENSMUSG00000036611 AllianceGenome:MGI:1914734
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2310005P05Rik
    Summary
    Predicted to enable DNA binding activity and catalytic activity. Involved in positive regulation of cholesterol efflux. Predicted to be active in plasma membrane. Is expressed in cerebral cortex ventricular layer; dorsal root ganglion; facial ganglion; orbito-sphenoid; and trigeminal ganglion. Orthologous to human EEPD1 (endonuclease/exonuclease/phosphatase family domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in subcutaneous fat pad adult (RPKM 40.4), genital fat pad adult (RPKM 22.0) and 17 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Eepd1 in Genome Data Viewer
    Location:
    9 A4; 9 10.25 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (25392809..25515406)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (25481513..25604110)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_23600 Neighboring gene predicted gene, 18891 Neighboring gene STARR-seq mESC enhancer starr_23601 Neighboring gene STARR-positive B cell enhancer ABC_E8281 Neighboring gene ClpB caseinolytic peptidase B homolog pseudogene Neighboring gene STARR-seq mESC enhancer starr_23602 Neighboring gene STARR-seq mESC enhancer starr_23603 Neighboring gene predicted gene, 25861 Neighboring gene predicted gene, 25346 Neighboring gene STARR-seq mESC enhancer starr_23604 Neighboring gene STARR-seq mESC enhancer starr_23607 Neighboring gene STARR-seq mESC enhancer starr_23608 Neighboring gene STARR-seq mESC enhancer starr_23609 Neighboring gene predicted gene, 39312 Neighboring gene squamous cell carcinoma antigen recognized by T-cells 3 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Obstructive Sleep Apnea Syndrome Exacerbates NASH Progression via Selective Autophagy-Mediated Eepd1 Degradation. Xiong J, et al. Adv Sci (Weinh), 2024 Sep. PMID 38924647, Free PMC Article
    2. EEPD1 Is a Novel LXR Target Gene in Macrophages Which Regulates ABCA1 Abundance and Cholesterol Efflux. Nelson JK, et al. Arterioscler Thromb Vasc Biol, 2017 Mar. PMID 28082258, Free PMC Article
    3. Analogous mechanism regulating formation of neocortical basal radial glia and cerebellar Bergmann glia. Heng X, et al. Elife, 2017 May 10. PMID 28489004, Free PMC Article
    4. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Obstructive Sleep Apnea Syndrome Exacerbates NASH Progression via Selective Autophagy-Mediated Eepd1 Degradation.
      Title: Obstructive Sleep Apnea Syndrome Exacerbates NASH Progression via Selective Autophagy-Mediated Eepd1 Degradation.
    2. EEPD1 is a novel LXR-regulated gene in macrophages and that it promotes cellular cholesterol efflux by controlling cellular levels and activity of ABCA1.
      Title: EEPD1 Is a Novel LXR Target Gene in Macrophages Which Regulates ABCA1 Abundance and Cholesterol Efflux.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    involved_in positive regulation of cholesterol efflux ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_026189.3 → NP_080465.3  endonuclease/exonuclease/phosphatase family domain-containing protein 1

      See identical proteins and their annotated locations for NP_080465.3

      Status: VALIDATED

      Source sequence(s)
      AA543616, AK009180, AW050261, BY127756, CK619108
      Consensus CDS
      CCDS22935.1
      UniProtKB/Swiss-Prot
      Q3TGW2, Q69ZC7, Q8K3B5, Q9D7J3
      Related
      ENSMUSP00000047083.6, ENSMUST00000040677.6
      Conserved Domains (3) summary
      cd10283
      Location:261 → 538
      MnuA_DNase1-like; Mycoplasma pulmonis MnuA nuclease-like
      COG1555
      Location:43 → 195
      ComEA; DNA uptake protein ComE and related DNA-binding proteins [Replication, recombination and repair]
      pfam12836
      Location:37 → 95
      HHH_3; Helix-hairpin-helix motif

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      25392809..25515406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036155199.1 → XP_036011092.1  endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform X1

      Conserved Domains (3) summary
      COG1555
      Location:43 → 195
      ComEA; DNA uptake protein ComE and related DNA-binding proteins [Replication, recombination and repair]
      pfam12836
      Location:35 → 95
      HHH_3; Helix-hairpin-helix motif
      cl00490
      Location:261 → 440
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    2. XM_006510556.5 → XP_006510619.1  endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform X3

      Conserved Domains (2) summary
      COG1555
      Location:43 → 195
      ComEA; DNA uptake protein ComE and related DNA-binding proteins [Replication, recombination and repair]
      pfam12836
      Location:35 → 95
      HHH_3; Helix-hairpin-helix motif

    3. XM_036155200.1 → XP_036011093.1  endonuclease/exonuclease/phosphatase family domain-containing protein 1 isoform X2

      Conserved Domains (2) summary
      COG1555
      Location:43 → 195
      ComEA; DNA uptake protein ComE and related DNA-binding proteins [Replication, recombination and repair]
      pfam12836
      Location:35 → 95
      HHH_3; Helix-hairpin-helix motif

    RNA

    1. XR_004935523.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3TGW2.1 GenPept UniProtKB/Swiss-Prot:Q3TGW2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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