ENSG00000143819


Homo sapiens

Features
Gene ID: ENSG00000143819
  
Biological name :EPHX1
  
Synonyms : EPHX1 / epoxide hydrolase 1 / P07099
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q42.12
Gene start: 225810092
Gene end: 225845563
  
Corresponding Affymetrix probe sets: 202017_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000398491
Ensembl peptide - ENSP00000480004
Ensembl peptide - ENSP00000408469
Ensembl peptide - ENSP00000272167
Ensembl peptide - ENSP00000355802
NCBI entrez gene - 2052     See in Manteia.
OMIM - 132810
RefSeq - NM_000120
RefSeq - NM_001136018
RefSeq - NM_001291163
RefSeq Peptide - NP_001129490
RefSeq Peptide - NP_001278092
RefSeq Peptide - NP_000111
swissprot - R4SBI6
swissprot - B1AQP8
swissprot - P07099
swissprot - B1AQP9
Ensembl - ENSG00000143819
  
Related genetic diseases (OMIM): 607748 - ?Hypercholanemia, familial, 607748
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ephx1ENSDARG00000042854Danio rerio
 EPHX1ENSGALG00000009291Gallus gallus
 Ephx1ENSMUSG00000038776Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000639  Epoxide hydrolase-like
 IPR010497  Epoxide hydrolase, N-terminal
 IPR016292  Epoxide hydrolase
 IPR029058  Alpha/Beta hydrolase fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006725 cellular aromatic compound metabolic process IEA
 biological_processGO:0006805 xenobiotic metabolic process TAS
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0019439 aromatic compound catabolic process IEA
 biological_processGO:0097176 epoxide metabolic process IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004301 epoxide hydrolase activity TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0033961 cis-stilbene-oxide hydrolase activity TAS


Pathways (from Reactome)
Pathway description
Phase I - Functionalization of compounds


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0002570 Steatorrhea 
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 HP:0002748 Rickets 
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 HP:0011892 Vitamin K deficiency 
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 HP:0012202 increased serum bile acid concentration "An increase in the concentration of `bile acid` (CHEBI:3098) in the blood." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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