H-InvDB_9.0 released on May 27, 2015. Search by Keyword H-Inv ID (HIT) H-Inv cluster ID (HIX) H-Inv protein ID (HIP) H-Inv gene family/group (HIF) Accession number Chromosome number Chromosome band Definition* Data source ID --- CCDS ID dbSNP ID (rs number) EC number Ensembl ID EntrezGene ID FR ID FR Accession number GO ID GO name* HGNC gene symbol HGNC gene name* InterPro ID InterPro name* OMIM ID OMIM title* Pathway ID Pathway name* RefSeq (gene) ID RefSeq (protein) ID SCOP ID UniProt for Advanced Search

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H-Invitational ID: HIT000325287 Accession number: Y00424 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Epoxide hydrolase 1; EC=3.3.2.9; Epoxide hydratase; Microsomal epoxide hydrolase;

		Select format Flat file XML file Nucleotide sequence fasta Protein sequence fasta

Transcript original information Accession number Y00424.1 CAGE tag ID NA EST ID NA Clone Number NA Experimental resources   NBRC ; HGPD ; Antibody (EPHX1) ; Catalog (EPHX1); Sequence data provider NA Annotation project NA Length of cDNA 1731[bp] (No. of exon:9)[A:387 T:391 G:448 C:505] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type liver Develpmental stage NA

Sequence quality information CDS feature Complete CDS Kozak sequence NA PolyA NA Vector/adapter sequence NA Frame shift NA Remaining intron NA Splice site acceptor (NAGNAG) CAGGAG;  Transcript quality feature NA Notes NA

GTTCCCAAGGAGTAATCAGAGGGTGAGAACGTGGAGCCTGGTGGACAGGT GAAAGCACTGGGATCTTTCTGCCCAGAAAGGGGAAAGTTGCACATTTATA TCCTAGAGGGAAGCGACACGAGTGCTTCTCCCTGTGCTGAGGTACAGGAG CCATGTGGCTAGAAATCCTCCTCACTTCAGTGCTGGGCTTTGCCATCTAC TGGTTCATCTCCCGGGACAAAGAGGAAACTTTGCCACTTGAAGATGGGTG GTGGGGGCCAGGCACGAGGTCCGCAGCCAGGGAGGACGACAGCATCCGCC CTTTCAAGGTGGAAACGTCAGATGAGGAGATCCACGACTTACACCAGAGG ATCGATAAGTTCCGTTTCACCCCACCTTTGGAGGACAGCTGCTTCCACTA TGGCTTCAACTCCAACTACCTGAAGAAAGTCATCTCCTACTGGCGGAATG AATTTGACTGGAAGAAGCAGGTGGAGATTCTCAACAGATACCCTCACTTC AAGACTAAAATTGAAGGGCTGGACATCCACTTCATCCACGTGAAGCCCCC CCAGCTGCCCGCAGGCCATACCCCGAAGCCCTTGCTGATGGTGAACGGCT GGCCCGGCTCTTTCTACGAGTTTTATAAGATCATCCCACTCCTGACTGAC CCCAAGAACCATGGCCTGAGCGATGAGCACGTTTTTGAAGTCATCTGCCC TTCCATCCCTGGCTATGGCTTCTCAGAGGCATCCTCCAAGAAGGGGTTCA ACTCGGTGGCCACCGCCAGGATCTTTTACAAGCTGATGCTGCGGCTGGGC TTCCAGGAATTCTACATTCAAGGAGGGGACTGGGGGTCCCTGATCTGCAC TAATATGGCCCAGCTGGTGCCCAGCCACGTGAAAGGCCTGCACTTGAACA TGGCTTTGGTTTTAAGCAACTTCTCTACCCTGACCCTCCTCCTGGGACAG CGTTTCGGGAGGTTTCTTGGCCTCACTGAGAGGGATGTGGAGCTGCTGTA CCCCGTCAAGGAGAAGGTATTCTACAGCCTGATGAGGGAGAGCGGCTACA TGCACATCCAGTGCACCAAGCCTGACACCGTAGGCTCTGCTCTGAATGAC TCTCCTGTGGGTCTGGCTGCCTATATTCTAGAGAAGTTTTCCACCTGGAC CAATACGGAATTCCGATACCTGGAGGATGGAGGCCTGGAAAGAAGCTTCT CCCTGGACGACCTGCTGACCAATGTCATGCTCTACTGGACAACAGGCACC ATCATCTCCTCCCAGCGCTTCTACAAGGAGAACCTGGGACAGGGCTGGAT GACCCAGAAGCATGAGCGGATGAAGGTCTATGTGCCCACTGGCTTCTCTG CCTTCCCTTTTGAGCTATTCCACACGCCTGAAAAGTGGGTGAGGTTCAAG TACCCCAAAGTCATCTCCTATTCCTACATGGTTCGTGGGGGCCACTTTGC GGCCTTTGAGGAGCCGGAGCTGCTCGCCCAGGACATCCGCAAGTTCCTGT CGGTGCTGGAGCGGCAATGACCCACCCCTCTCCCCCCGCCTGCCACCTCC CCCCACAAGTGCCCTCCAGGCTTTTCTTGGGGAAGATACCCCTTTTCTGA GGAATGAGTTTGCCTCCGTCCCCTGCCATGCTGGGAGCCCACGCTGACCC CCTGACCCCTCCAAGCTCACTCCCCAACCCCCAACTCCGTGTGGTAAGCA ACATGGCTTTGATGATAAACGACTTTACTCT

Gene structure information

H-Inv cluster ID		HIX0199950
Genomic location	Chromosome	1
	Location	1q42.12
	Position	226013100- 226033260
	Strand	+
Possible duplicated location(s)		NA
Gene structure		9 exon(s)
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:2052;
	KEGG GENES	KEGG GENES(2052);
	GeneCard	EPHX1;  *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links		H-DBAS;  G-integra;  cDNA-genome alignment;

Predicted CDS information HIP ID HIP000114880 Predicted CDS 153..1520;  455[aa];  Orientation:+3;  Codon Adaptation Index (CAI). 0.842

MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRP FKVETSDEEIHDLHQRIDKFRFTPPLEDSCFHYGFNSNYLKKVISYWRNE FDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVNGW PGSFYEFYKIIPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFN SVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVPSHVKGLHLNM ALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYM HIQCTKPDTVGSALNDSPVGLAAYILEKFSTWTNTEFRYLEDGGLERSFS LDDLLTNVMLYWTTGTIISSQRFYKENLGQGWMTQKHERMKVYVPTGFSA FPFELFHTPEKWVRFKYPKVISYSYMVRGGHFAAFEEPELLAQDIRKFLS VLERQ*

Motif information

	a.a. length	InterPro	Name
	419	IPR029058	Alpha/Beta hydrolase fold [Domain]
	408	IPR029058	Alpha/Beta hydrolase fold [Domain]
	113	IPR010497	Epoxide hydrolase, N-terminal [Domain]
	19	IPR000639	Epoxide hydrolase-like [Family]
	16	IPR000639	Epoxide hydrolase-like [Family]
	217	IPR000073	Alpha/beta hydrolase fold-1 [Domain]
	14	IPR000639	Epoxide hydrolase-like [Family]
	14	IPR000639	Epoxide hydrolase-like [Family]
	17	IPR000639	Epoxide hydrolase-like [Family]
	23	IPR000639	Epoxide hydrolase-like [Family]

Gene function information

H-Inv ID		HIT000325287
H-Inv cluster ID		HIX0199950
Accession number		Y00424.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;  Splicing isoform
Coding potential		Protein coding;
Definition		Epoxide hydrolase 1; EC=3.3.2.9; Epoxide hydratase; Microsomal epoxide hydrolase;
Similarity category		Category: Identical to known human protein(Category I).
		Identical to known human protein (P07099)  [Identity/coverage = 99.121%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence		Protein evidence
PubMed ID		2891713;  3502697;  7516776;  7835893;  11058921;  12173035;  12878321;  15489334;  15535985;  15618730;  16710414;  21269460;  ALL;
Gene family/group	H-Inv gene family/group ID	NA
	Gene family/group name	NA
	Evidence motif (InterPro) ID	NA
Gene symbol/name	HGNC symbol	EPHX1
	HGNC aliases	NA
	HGNC name	epoxide hydrolase 1, microsomal (xenobiotic)
	DDBJ	NA
	UniProt	EPHX1
EC number		EC 3.3.2.9microsomal epoxide hydrolase;
GGDB (GlycoGene Database)	Gene symbol	NA
	Familly	NA
	Designation	NA
	Expression	NA
KEGG metabolic pathway		00980 :Metabolism of xenobiotics by cytochrome P450;
Protein-protein interaction (PPI)	H-Inv protein ID	HIP000114880
	No. of interaction	1
	Interaction partner(s)	HIP000135231;
	BIND	NA
	DIP	NA
	MINT	NA
	HPRD	NA
	IntAct	NA
Database links	RefSeq	NA
	Ensembl	NA
	Entrez Gene	Entrez Gene ID:2052;
	KEGG GENES	KEGG GENES(2052);
	GeneCard	EPHX1;  *GeneCards is provided free to academic non-profit institutions.
	etc	Human-Gene diversity Of Life-style related Diseases;
Curation status		Auto-annotated
Notes		NA
Related H-InvDB links		Gene family;  Similarity Search Tool;  TACT;

fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome.

NA

Gene ontology information

Molecular function	catalytic activity (GO:0003824);

Subcellular localization information

Last modified:27-May-2015

WoLF PSORT	endoplasmic;  extracellular;  peroxisome;  plasma membrane;  Other;
Target P	signal peptide
SOSUI	membrane protein
TMHMM	soluble protein
PTS1	Not targeted
Related H-InvDB links	LIFEdb;  JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP)

Last modified:27-May-2015

Start End PDB_ID E-value Identity Coverage SCOP_ID 42 449 1qo7A 1e-31 26.0 369/385 c.69.1.11

Related H-InvDB links GTOP

Gene expression information

Last modified:27-May-2015

Tissue-specific expression			NA
Probe information	AceGene		AGhsA250218;
	Affymetrix GeneChip	HG-Focus	202017_at;
		HG-U133	202017_at;
		HG-U133A	202017_at;
		HG-U133A_2	202017_at;
		HG-U133B	NA
		HG-U133_Plus_2	202017_at;
		HG-U95	38790_at;  59694_at;
		HG-U95A	38790_at;
		HG-U95B	NA
		HG-U95C	59694_at;
		HG-U95D	NA
		HG-U95E	NA
		HG-U95Av2	NA
		HuEx-1_0	2382974;  2382976;  2382979;  2382986;  2382987;  2382988;  2382993;  2382996;  2382997;  2382998;  2458516;
		HuGeneFL	L25878_s_at;
	Agilent	Human 1A Oligo Microarray:PGID215	NA
		Whole Human Genome Oligo Microarray:PGID247	NA
Related H-InvDB links			H-ANGEL;  DNAProbeLocator;

Disease/pathology information

Last modified:27-May-2015

Disease relation		Disease name: Hypercholanemia, familial (607748);  Disease name: {Preeclampsia, susceptibility to} (189800);
Related information in OMIM		OMIM ID:  132810;  Title: EPOXIDE HYDROLASE 1, MICROSOMAL
Co-localized orphan diseases		NA
Disease related mutation		NA
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	Entrez Gene ID:(2052)
	Disease	Entrez Gene ID:(2052)
	Substance	Entrez Gene ID:(2052)
Related H-InvDB links		DiseaseInfo Viewer;  LEGENDA;

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 8 .. 8 A/G rs55948105 + 5'UTR 30 .. 30 C/T rs75412946 + 5'UTR 31 .. 31 G/A rs72549340 + 5'UTR 99 .. 99 T/C rs188396376 + 5'UTR 182 .. 182 G/A rs200493338 + CDS Synonymous[Val10Val] 188 .. 188 C/T rs148398736 + CDS Synonymous[Gly12Gly] 229 .. 229 C/G rs200146699 + CDS Nonsynonymous[Thr26Ser] 273 .. 273 G/A rs11540967 + CDS Nonsynonymous[Ala41Thr] 280 .. 280 G/C rs3738046 + CDS Nonsynonymous[Arg43Thr] 297 .. 297 C/T rs2234697 + CDS Nonsynonymous[Arg49Cys] 317 .. 317 G/A rs182154631 + CDS Synonymous[Thr55Thr] 327 .. 327 G/T rs11540969 + CDS AA-STOP[Glu59*] 342 .. 342 C/A rs146362595 + CDS Nonsynonymous[His64Asn] 356 .. 356 T/C rs2234698 + CDS Synonymous[Asp68Asp] 363 .. 363 C/T rs148240980 + CDS Nonsynonymous[Arg71Cys] 364 .. 364 G/A rs58623835 + CDS Nonsynonymous[Arg71His] 383 .. 383 G/A rs55798709 + CDS Synonymous[Glu77Glu] 398 .. 398 C/G rs145942697 + CDS Nonsynonymous[His82Gln] 416 .. 416 C/T rs139835798 + CDS Synonymous[Asn88Asn] 442 .. 442 G/A rs4986931 + CDS AA-STOP[Trp97*] 455 .. 455 T/C rs2234699 + CDS Synonymous[Phe101Phe] 471 .. 471 G/C rs200804772 + CDS Nonsynonymous[Val107Leu] 487 .. 487 G/A rs145813024 + CDS Nonsynonymous[Arg112Lys] 489 .. 489 T/C rs1051740 + CDS Nonsynonymous[Tyr113His] 502 .. 502 A/G rs67892231 + CDS Nonsynonymous[Lys117Arg] 509 .. 509 A/G rs1131873 + CDS Synonymous[Lys119Lys] 509 .. 509 A/G rs2292566 + CDS Synonymous[Lys119Lys] 535 .. 535 T/C rs138091095 + CDS Nonsynonymous[Ile128Thr] 539 .. 539 C/A/T rs112721617 + CDS 561 .. 561 G/A rs141157588 + CDS Nonsynonymous[Ala137Thr] 567 .. 567 C/T rs55784606 + CDS Nonsynonymous[His139Tyr] 568 .. 568 A/G rs2234922 + CDS Nonsynonymous[His139Arg] 605 .. 605 C/T rs147296174 + CDS Synonymous[Pro151Pro] 608 .. 608 C/T rs144904318 + CDS Synonymous[Gly152Gly] 617 .. 617 C/T rs199979074 + CDS Synonymous[Tyr155Tyr] 646 .. 646 C/T rs139835141 + CDS Nonsynonymous[Thr165Ile] 675 .. 675 G/A rs151050888 + CDS Nonsynonymous[Glu175Lys] 735 .. 735 T/C rs140788022 + CDS Nonsynonymous[Ser195Pro] 789 .. 789 C/T rs112886664 + CDS Synonymous[Leu213Leu] 838 .. 838 C/T rs138769642 + CDS Nonsynonymous[Ser229Phe] 856 .. 856 T/C rs148810909 + CDS Nonsynonymous[Met235Thr] 882 ^ 883 -/A rs66903687 + CDS 883 .. 883 A/G rs141680636 + CDS Nonsynonymous[Lys244Arg] 893 .. 893 C/T rs34143170 + CDS Synonymous[His247His] 894 ^ 895 -/TT rs56132313 + CDS 914 .. 914 A/G rs35561387 + CDS Synonymous[Leu254Leu] 920 .. 920 C/A rs56300109 + CDS Nonsynonymous[Asn256Lys] 924 .. 924 T/G rs148730399 + CDS Nonsynonymous[Ser258Ala] 930 .. 930 C/T rs35967527 + CDS Synonymous[Leu260Leu] 935 .. 935 C/T rs146743027 + CDS Synonymous[Thr261Thr] 975 .. 975 A/G rs35073925 + CDS Nonsynonymous[Thr275Ala] 1004 .. 1004 C/T rs2292568 + CDS Synonymous[Pro284Pro] 1005 .. 1005 G/C rs45449793 + CDS Nonsynonymous[Val285Leu] 1022 .. 1022 C/T rs1803538 + CDS Synonymous[Phe290Phe] 1080 .. 1080 G/A rs143164964 + CDS Nonsynonymous[Val310Ile] 1208 .. 1208 C/T rs140207745 + CDS Synonymous[Asp352Asp] 1223 .. 1223 T/C rs1051741 + CDS Synonymous[Asn357Asn] 1273 .. 1273 A/C rs72549341 + CDS Nonsynonymous[Tyr374Ser] 1313 .. 1313 T/A rs2137841 - CDS Nonsynonymous[His387Gln] 1316 .. 1316 G/A rs150700932 + CDS Synonymous[Glu388Glu] 1368 .. 1368 T/C rs2234700 + CDS Nonsynonymous[Phe406Leu] 1375 .. 1375 C/T rs45495897 + CDS Nonsynonymous[Thr408Met] 1391 .. 1391 G/A rs45540739 + CDS Synonymous[Val413Val] 1394 .. 1394 G/A rs142674326 + CDS Synonymous[Arg414Arg] 1400 .. 1400 G/A rs4149229 + CDS Synonymous[Lys416Lys] 1434 .. 1434 C/T rs199757500 + CDS Nonsynonymous[Arg428Cys] 1435 .. 1435 G/A rs141221713 + CDS Nonsynonymous[Arg428His] 1451 .. 1451 G/A rs45550332 + CDS Synonymous[Ala433Ala] 1466 .. 1466 G/A rs45464298 + CDS Synonymous[Pro438Pro] 1493 .. 1493 G/A rs202036186 + CDS Synonymous[Lys447Lys] 1502 .. 1502 G/C rs4149230 + CDS Synonymous[Ser450Ser] 1507 .. 1507 T/A rs45563137 + CDS Nonsynonymous[Leu452Gln] 1513 .. 1513 G/A rs2234701 + CDS Nonsynonymous[Arg454Gln] 1535 .. 1535 C/G rs200292137 + 3'UTR 1554 .. 1554 C/T rs201119273 + 3'UTR 1555 .. 1555 A/C rs4653695 + 3'UTR 1617 .. 1617 C/T rs191971826 + 3'UTR 1644 .. 1644 C/T rs71646751 + 3'UTR  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;