HYEP_HUMAN
Source:
PM23856902
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
EPHX1
, EPHX, EPOX
Protein names and data:
HYEP_HUMAN
, Epoxide hydrolase 1; 3.3.2.9
, Epoxide hydratase; Microsomal epoxide hydrolase
Lenght: 455 a.a.
Mass: 52949 Da
fasta formatted sequence
Function:
Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water.
Catalytic activity:
Cis-stilbene oxide + H(2)O = (+)-(1R,2R)-1,2- diphenylethane-1,2-diol.
Disease:
( OMIM:
132810
607748
)
Note=In some populations, the high activity haplotype tyr113/his139 is overrepresented among women suffering from pregnancy-induced hypertension (pre-eclampsia) when compared with healthy controls. Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Microsome membrane; Single-pass type II membrane protein. Endoplasmic reticulum membrane; Single-pass type II membrane protein (Potential).
Tissue specificity:
Found in liver.
Genetic variants
43 - 43
R -> T (in dbSNP:rs3738046). VAR_023303
3738046
44 - 44
E -> Q. VAR_018347
49 - 49
R -> C (in allele EPHX1*2; dbSNP:rs2234697). VAR_013298
2234697
113 - 113
Y -> H (in allele EPHX1*3; 55% of wild type enzyme activity; dbSNP:rs1051740). VAR_005295
1051740
139 - 139
H -> R (in allele EPHX1*4; 62% of wild type enzyme activity; dbSNP:rs2234922). VAR_005296
2234922
260 - 260
L -> P (in allele EPHX1*1G). VAR_013299
275 - 275
T -> A (in dbSNP:rs35073925). VAR_051828
35073925
285 - 285
V -> L (in dbSNP:rs45449793). VAR_023304
45449793
396 - 396
T -> I (either a rare polymorphism or a sequencing error). VAR_005297
408 - 408
T -> M (in dbSNP:rs45495897). VAR_023305
45495897
452 - 452
L -> Q (in dbSNP:rs45563137). VAR_023306
45563137
454 - 454
R -> Q (in allele EPHX1*5; dbSNP:rs2234701). VAR_013300
2234701
Database cross-references
UniProt:
P07099
Ensembl:
ENST00000272167
Ensembl:
ENST00000366837
MIM:
132810
MIM:
607748
neXtProt:
NX_P07099
Antibodypedia:
P07099
(may not find the protein thus also not any antibody)
Local full text data:
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