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    Ephx1 epoxide hydrolase 1, microsomal [ Mus musculus (house mouse) ]

    Gene ID: 13849, updated on 5-Mar-2024

    Summary

    Official Symbol
    Ephx1provided by MGI
    Official Full Name
    epoxide hydrolase 1, microsomalprovided by MGI
    Primary source
    MGI:MGI:95405
    See related
    Ensembl:ENSMUSG00000038776 AllianceGenome:MGI:95405
    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
    EH; mEH; Eph1; Eph-1; Epxh1
    Summary
    Predicted to enable cis-stilbene-oxide hydrolase activity; enzyme binding activity; and epoxide hydrolase activity. Acts upstream of or within cellular aromatic compound metabolic process and response to organic cyclic compound. Predicted to be located in intracellular membrane-bounded organelle and plasma membrane. Is expressed in several structures, including brain ventricle and choroid plexus; cranial ganglion; integumental system; nose; and salivary gland. Human ortholog(s) of this gene implicated in several diseases, including Leber hereditary optic neuropathy; anemia (multiple); hematologic cancer (multiple); respiratory system disease (multiple); and toxic encephalopathy. Orthologous to human EPHX1 (epoxide hydrolase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in liver adult (RPKM 113.7), bladder adult (RPKM 62.6) and 19 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    1 H4; 1 84.48 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (180817121..180845134, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (180989556..181017569, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39715 Neighboring gene left right determination factor 1 Neighboring gene transmembrane protein 63a Neighboring gene STARR-seq mESC enhancer starr_03223 Neighboring gene STARR-seq mESC enhancer starr_03226 Neighboring gene STARR-positive B cell enhancer ABC_E3344 Neighboring gene STARR-seq mESC enhancer starr_03227 Neighboring gene STARR-seq mESC enhancer starr_03228 Neighboring gene delta 4-desaturase, sphingolipid 1 like Neighboring gene predicted gene, 39716 Neighboring gene ribosomal protein L7 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3)  1 citation
    • Endonuclease-mediated (4) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cis-stilbene-oxide hydrolase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables epoxide hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables epoxide hydrolase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ether hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxysterol binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    epoxide hydrolase 1
    Names
    epoxide hydratase
    microsomal epoxide hydrolase
    NP_001299847.1
    NP_034275.1

    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_001312918.1NP_001299847.1  epoxide hydrolase 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC117673, AK018249, AW047588, BY312366
      Consensus CDS
      CCDS83653.1
      UniProtKB/TrEMBL
      E9PWK1, Q6PEV0
      Related
      ENSMUSP00000106697.2, ENSMUST00000111068.8
      Conserved Domains (3) summary
      COG0596
      Location:121434
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
      pfam06441
      Location:50152
      EHN; Epoxide hydrolase N terminus
      cl21494
      Location:142231
      Abhydrolase; alpha/beta hydrolases
    2. NM_010145.3NP_034275.1  epoxide hydrolase 1 isoform 1

      See identical proteins and their annotated locations for NP_034275.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC117673, AK018249, AW047588, BY312366
      Consensus CDS
      CCDS15579.1
      UniProtKB/Swiss-Prot
      P97869, Q9D379
      UniProtKB/TrEMBL
      Q8K2W5
      Related
      ENSMUSP00000047551.6, ENSMUST00000036928.12
      Conserved Domains (3) summary
      COG0596
      Location:121448
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
      pfam06441
      Location:50152
      EHN; Epoxide hydrolase N terminus
      cl21494
      Location:124255
      Abhydrolase; alpha/beta hydrolases

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      180817121..180845134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)