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    EPHX3 epoxide hydrolase 3 [ Homo sapiens (human) ]

    Gene ID: 79852, updated on 5-Mar-2024

    Summary

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    Official Symbol
    EPHX3provided by HGNC
    Official Full Name
    epoxide hydrolase 3provided by HGNC
    Primary source
    HGNC:HGNC:23760
    See related
    Ensembl:ENSG00000105131 MIM:617400; AllianceGenome:HGNC:23760
    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
    EH3; ABHD9
    Summary
    Enables epoxide hydrolase activity. Involved in epoxide metabolic process. Located in intracellular membrane-bounded organelle and membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in skin (RPKM 21.8), esophagus (RPKM 15.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (15226919..15237008, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (15351830..15358380, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (15337730..15343779, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 782, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:15281145-15281735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:15291996-15292515 Neighboring gene notch receptor 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:15292516-15293034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15296283-15296783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15305376-15305876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15305877-15306377 Neighboring gene microRNA 6795 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:15310876-15311102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15311689-15312190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15312191-15312690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:15333321-15334017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15343009-15343510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15361355-15362226 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:15373316-15373494 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:15374509-15375008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15376180-15376680 Neighboring gene bromodomain containing 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:15385287-15385786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:15409795-15410322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:15410749-15411456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10274 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:15443616-15444232 Neighboring gene uncharacterized LOC124904643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14184 Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:15489739-15490654 and GRCh37_chr19:15490655-15491569 Neighboring gene A-kinase anchoring protein 8 Neighboring gene A-kinase anchoring protein 8 like Neighboring gene NANOG hESC enhancer GRCh37_chr19:15523607-15524136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15524849-15525350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:15525351-15525850

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Validation study of genes with hypermethylated promoter regions associated with prostate cancer recurrence. Stott-Miller M, et al. Cancer Epidemiol Biomarkers Prev, 2014 Jul. PMID 24718283, Free PMC Article
    2. Discovery and validation of 3 novel DNA methylation markers of prostate cancer prognosis. Cottrell S, et al. J Urol, 2007 May. PMID 17437806
    3. Relative Importance of Soluble and Microsomal Epoxide Hydrolases for the Hydrolysis of Epoxy-Fatty Acids in Human Tissues. Morisseau C, et al. Int J Mol Sci, 2021 May 8. PMID 34066758, Free PMC Article
    4. EH3 (ABHD9): the first member of a new epoxide hydrolase family with high activity for fatty acid epoxides. Decker M, et al. J Lipid Res, 2012 Oct. PMID 22798687, Free PMC Article
    5. Oxidative damage to biological macromolecules in Prague bus drivers and garagemen: impact of air pollution and genetic polymorphisms. Bagryantseva Y, et al. Toxicol Lett, 2010 Nov 10. PMID 20723587

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Relative Importance of Soluble and Microsomal Epoxide Hydrolases for the Hydrolysis of Epoxy-Fatty Acids in Human Tissues.
      Title: Relative Importance of Soluble and Microsomal Epoxide Hydrolases for the Hydrolysis of Epoxy-Fatty Acids in Human Tissues.
    2. These results validate the association between promoter hypermethylation of ABHD9 and HOXD3 and prostate cancer recurrence
      Title: Validation study of genes with hypermethylated promoter regions associated with prostate cancer recurrence.
    3. The identification of two human epoxide hydrolases: EH3 and EH4.
      Title: EH3 (ABHD9): the first member of a new epoxide hydrolase family with high activity for fatty acid epoxides.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Oxidative damage to biological macromolecules in Prague bus drivers and garagemen: impact of air pollution and genetic polymorphisms.
    5. methylation of the ABHD9 is significantly associated with prostate cancer prognosis.
      Title: Discovery and validation of 3 novel DNA methylation markers of prostate cancer prognosis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ22408, MGC131519

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables epoxide hydrolase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in epoxide metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    epoxide hydrolase 3
    Names
    abhydrolase domain containing 9
    abhydrolase domain-containing protein 9
    NP_001136358.1
    NP_079070.1
    XP_024307493.1
    XP_047295408.1
    XP_054178167.1
    XP_054178168.1

    NCBI Reference Sequences (RefSeq)

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    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_001142886.2 → NP_001136358.1  epoxide hydrolase 3

      See identical proteins and their annotated locations for NP_001136358.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5'UTR. Transcript variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC004257, BC115002, CD632298, DA378406
      Consensus CDS
      CCDS12327.1
      UniProtKB/Swiss-Prot
      A3KMR3, Q9H6B9
      Related
      ENSP00000410323.1, ENST00000435261.5
      Conserved Domains (1) summary
      COG0596
      Location:80 → 351
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    2. NM_024794.3 → NP_079070.1  epoxide hydrolase 3

      See identical proteins and their annotated locations for NP_079070.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) has an alternate 5'UTR. Transcript variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC004257, AK026061, BC115002
      Consensus CDS
      CCDS12327.1
      UniProtKB/Swiss-Prot
      A3KMR3, Q9H6B9
      Related
      ENSP00000221730.2, ENST00000221730.8
      Conserved Domains (1) summary
      COG0596
      Location:80 → 351
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      15226919..15237008 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439452.1 → XP_047295408.1  epoxide hydrolase 3 isoform X1

      UniProtKB/Swiss-Prot
      A3KMR3, Q9H6B9

    2. XM_024451725.2 → XP_024307493.1  epoxide hydrolase 3 isoform X1

      UniProtKB/Swiss-Prot
      A3KMR3, Q9H6B9
      Related
      ENSP00000469345.1, ENST00000602233.5
      Conserved Domains (1) summary
      COG0596
      Location:80 → 351
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      15351830..15358380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322193.1 → XP_054178168.1  epoxide hydrolase 3 isoform X1

      UniProtKB/Swiss-Prot
      A3KMR3, Q9H6B9

    2. XM_054322192.1 → XP_054178167.1  epoxide hydrolase 3 isoform X1

      UniProtKB/Swiss-Prot
      A3KMR3, Q9H6B9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6B9.1 GenPept UniProtKB/Swiss-Prot:Q9H6B9

    Gene LinkOut

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

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