EPHX3 epoxide hydrolase 3 [Homo sapiens (human)] - Gene

Summary

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, Dec 2024]
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

Location:: 19p13.12

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (15226919..15237008, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (15351830..15358380, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (15337730..15343779, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 3.3.2.10

NP_079070.1

EC 3.3.2.10

XP_024307493.1

EC 3.3.2.10

XP_047295408.1

EC 3.3.2.10

XP_054178167.1

EC 3.3.2.10

XP_054178168.1

EC 3.3.2.10

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)

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]
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

15226919..15237008 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A3KMR3, Q9H6B9
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

NC_060943.1 Alternate T2T-CHM13v2.0

Range

15351830..15358380 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A3KMR3, Q9H6B9
XM_054322192.1 → XP_054178167.1 epoxide hydrolase 3 isoform X1

UniProtKB/Swiss-Prot

A3KMR3, Q9H6B9