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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
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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)

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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_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)