LOCUS NP_001970 555 aa linear PRI 25-DEC-2023
DEFINITION bifunctional epoxide hydrolase 2 isoform 1 [Homo sapiens].
ACCESSION NP_001970
VERSION NP_001970.2
DBSOURCE REFSEQ: accession NM_001979.6
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 555)
AUTHORS Pu Y, Cheng R, Zhang Q, Huang T, Lu C, Tang Z, Zhong Y, Wu L,
Hammock BD, Hashimoto K, Luo Y and Liu Y.
TITLE Role of soluble epoxide hydrolase in the abnormal activation of
fibroblast-like synoviocytes from patients with rheumatoid
arthritis
JOURNAL Clin Immunol 257, 109850 (2023)
PUBMED 38013165
REMARK GeneRIF: Role of soluble epoxide hydrolase in the abnormal
activation of fibroblast-like synoviocytes from patients with
rheumatoid arthritis.
REFERENCE 2 (residues 1 to 555)
AUTHORS Gao L, Chen W, Li L, Li J, Kongling W, Zhang Y, Yang X, Zhao Y, Bai
J and Wang F.
TITLE Targeting soluble epoxide hydrolase promotes osteogenic-angiogenic
coupling via activating SLIT3/HIF-1alpha signalling pathway
JOURNAL Cell Prolif 56 (7), e13403 (2023)
PUBMED 36636821
REMARK GeneRIF: Targeting soluble epoxide hydrolase promotes
osteogenic-angiogenic coupling via activating SLIT3/HIF-1alpha
signalling pathway.
REFERENCE 3 (residues 1 to 555)
AUTHORS Padhy B, Kapuganti RS, Hayat B, Mohanty PP and Alone DP.
TITLE Wide-spread enhancer effect of SNP rs2279590 on regulating epoxide
hydrolase-2 and protein tyrosine kinase 2-beta gene expression
JOURNAL Gene 854, 147096 (2023)
PUBMED 36470481
REMARK GeneRIF: Wide-spread enhancer effect of SNP rs2279590 on regulating
epoxide hydrolase-2 and protein tyrosine kinase 2-beta gene
expression.
REFERENCE 4 (residues 1 to 555)
AUTHORS Sato K, Emi M, Ezura Y, Fujita Y, Takada D, Ishigami T, Umemura S,
Xin Y, Wu LL, Larrinaga-Shum S, Stephenson SH, Hunt SC and Hopkins
PN.
TITLE Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total
cholesterol and triglyceride phenotype in familial
hypercholesterolemia: intrafamilial association study in an
eight-generation hyperlipidemic kindred
JOURNAL J Hum Genet 49 (1), 29-34 (2004)
PUBMED 14673705
REFERENCE 5 (residues 1 to 555)
AUTHORS Sandberg M and Meijer J.
TITLE Structural characterization of the human soluble epoxide hydrolase
gene (EPHX2)
JOURNAL Biochem Biophys Res Commun 221 (2), 333-339 (1996)
PUBMED 8619856
REFERENCE 6 (residues 1 to 555)
AUTHORS Larsson C, White I, Johansson C, Stark A and Meijer J.
TITLE Localization of the human soluble epoxide hydrolase gene (EPHX2) to
chromosomal region 8p21-p12
JOURNAL Hum Genet 95 (3), 356-358 (1995)
PUBMED 7868134
REFERENCE 7 (residues 1 to 555)
AUTHORS Beetham JK, Tian T and Hammock BD.
TITLE cDNA cloning and expression of a soluble epoxide hydrolase from
human liver
JOURNAL Arch Biochem Biophys 305 (1), 197-201 (1993)
PUBMED 8342951
REFERENCE 8 (residues 1 to 555)
AUTHORS Papadopoulos D, Grondal S, Rydstrom J and DePierre JW.
TITLE Levels of cytochrome P-450, steroidogenesis and microsomal and
cytosolic epoxide hydrolases in normal human adrenal tissue and
corresponding tumors
JOURNAL Cancer Biochem Biophys 12 (4), 283-291 (1992)
PUBMED 1423213
REFERENCE 9 (residues 1 to 555)
AUTHORS Petruzzelli S, Franchi M, Gronchi L, Janni A, Oesch F, Pacifici GM
and Giuntini C.
TITLE Cigarette smoke inhibits cytosolic but not microsomal epoxide
hydrolase of human lung
JOURNAL Hum Exp Toxicol 11 (2), 99-103 (1992)
PUBMED 1349227
REFERENCE 10 (residues 1 to 555)
AUTHORS Vesell ES.
TITLE Genetic factors that regulate cytosolic epoxide hydrolase activity
in normal human lymphocytes
JOURNAL Ann Genet 34 (3-4), 167-172 (1991)
PUBMED 1809223
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC331720.1, BC011628.2,
BQ272362.1 and AF311103.5.
This sequence is a reference standard in the RefSeqGene project.
On Jan 11, 2003 this sequence version replaced NP_001970.1.
Summary: This gene encodes a member of the epoxide hydrolase
family. The protein, found in both the cytosol and peroxisomes,
binds to specific epoxides and converts them to the corresponding
dihydrodiols. Mutations in this gene have been associated with
familial hypercholesterolemia. Alternatively spliced transcript
variants have been described. [provided by RefSeq, Feb 2012].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR1660805.14265.1,
SRR7410570.425362.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1965299, SAMEA1966682
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000521400.6/ ENSP00000430269.1
RefSeq Select criteria :: based on conservation, expression,
longest protein
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..555
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="8"
/map="8p21.2-p21.1"
Protein 1..555
/product="bifunctional epoxide hydrolase 2 isoform 1"
/EC_number="3.3.2.10"
/EC_number="3.1.3.76"
/note="epoxide hydrolase 2, cytosolic; epoxide hydrolase,
soluble; epoxide hydratase; epoxide hydrolase 2,
cytoplasmic; bifunctional epoxide hydrolase 2"
/calculated_mol_wt=62485
Region 1..224
/region_name="Phosphatase"
/note="propagated from UniProtKB/Swiss-Prot (P34913.2)"
Region 3..214
/region_name="HAD_sEH-N_like"
/note="N-terminal lipase phosphatase domain of human
soluble epoxide hydrolase, Escherichia coli YihX/HAD4
alpha-D-glucose 1-phosphate phosphatase, and related
domains, may be inactive; cd02603"
/db_xref="CDD:319790"
Site order(9..13,123..124,160,184..185,188..189)
/site_type="active"
/db_xref="CDD:319790"
Site 43
/site_type="acetylation"
/note="N6-acetyllysine.
/evidence=ECO:0007744|PubMed:19608861; propagated from
UniProtKB/Swiss-Prot (P34913.2)"
Site 155
/site_type="other"
/note="homodimer interface [polypeptide binding]"
/db_xref="CDD:319790"
Site 191
/site_type="acetylation"
/note="N6-acetyllysine.
/evidence=ECO:0000250|UniProtKB:P34914; propagated from
UniProtKB/Swiss-Prot (P34913.2)"
Site 215
/site_type="acetylation"
/note="N6-acetyllysine.
/evidence=ECO:0000250|UniProtKB:P34914; propagated from
UniProtKB/Swiss-Prot (P34913.2)"
Region 235..555
/region_name="Epoxide hydrolase"
/note="propagated from UniProtKB/Swiss-Prot (P34913.2)"
Region 259..531
/region_name="Abhydrolase_1"
/note="alpha/beta hydrolase fold; pfam00561"
/db_xref="CDD:395444"
Site 370
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:P34914; propagated from
UniProtKB/Swiss-Prot (P34913.2)"
Region 553..555
/region_name="Microbody targeting signal.
/evidence=ECO:0000255"
/note="propagated from UniProtKB/Swiss-Prot (P34913.2)"
CDS 1..555
/gene="EPHX2"
/gene_synonym="ABHD20; CEH; SEH"
/coded_by="NM_001979.6:67..1734"
/note="isoform 1 is encoded by transcript variant 1"
/db_xref="CCDS:CCDS6060.1"
/db_xref="GeneID:2053"
/db_xref="HGNC:HGNC:3402"
/db_xref="MIM:132811"
ORIGIN
1 mtlraavfdl dgvlalpavf gvlgrteeal alprgllnda fqkggpegat trlmkgeitl
61 sqwiplmeen crkcsetakv clpknfsike ifdkaisark inrpmlqaal mlrkkgftta
121 iltntwlddr aerdglaqlm celkmhfdfl iescqvgmvk pepqiykfll dtlkaspsev
181 vflddiganl kpardlgmvt ilvqdtdtal kelekvtgiq llntpaplpt scnpsdmshg
241 yvtvkprvrl hfvelgsgpa vclchgfpes wyswryqipa laqagyrvla mdmkgygess
301 appeieeycm evlckemvtf ldklglsqav fighdwggml vwymalfype rvravaslnt
361 pfipanpnms plesikanpv fdyqlyfqep gvaeaeleqn lsrtfkslfr asdesvlsmh
421 kvceagglfv nspeepslsr mvteeeiqfy vqqfkksgfr gplnwyrnme rnwkwacksl
481 grkilipalm vtaekdfvlv pqmsqhmedw iphlkrghie dcghwtqmdk ptevnqilik
541 wldsdarnpp vvskm
//
