Gene: ETHE1 (ethylmalonic encephalopathy 1)
Homo sapiens
Symbol:
ETHE1
Name:
ethylmalonic encephalopathy 1
Description:
This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy.[provided by RefSeq, May 2009]
Type:
protein-coding
RefSeq Status:
REVIEWED
Also known as:
ethylmalonic encephalopathy protein 1; hepatoma subtracted clone one protein; HSCO; protein ETHE1, mitochondrial; YF13H12
Orthologs:
Mus musculus : Ethe1
(ethylmalonic encephalopathy 1)
MGI
Ethe1
(ethylmalonic encephalopathy 1)
Latest Assembly:
Human Genome Assembly GRCh37
Position:
Map Chr Position Strand Source Human Alternate Assembly CHM1_1 19 44,200,707 - 44,221,231 - NCBI Human Genome Assembly HuRef 19 40,440,766 - 40,462,063 - NCBI Human Genome Assembly GRCh37 19 44,010,871 - 44,031,396 - NCBI Human Celera Assembly 19 40,811,624 - 40,834,029 - NCBI Human Genome Assembly Build 36 19 48,702,711 - 48,723,236 - NCBI Human Cytogenetic Map 19 q13.31 NCBI Human Genome Assembly 19 48,702,711 - 48,723,236 NCBI
Model
Disease Annotations
Gene-Chemical Interaction Annotations
17beta-estradiol affects expression EXP 6480464 Estradiol affects the expression of ETHE1 mRNA CTD PMID:22574217 2,3,7,8-tetrachlorodibenzodioxine decreases expression ISO RGD:1311034 6480464 Tetrachlorodibenzodioxin results in decreased expression of ETHE1 mRNA CTD PMID:21215274 2,3,7,8-tetrachlorodibenzodioxine decreases expression ISO RGD:1311034 6480464 Tetrachlorodibenzodioxin results in decreased expression of ETHE1 mRNA CTD PMID:21215274 PMID:21724226 2,3,7,8-tetrachlorodibenzodioxine affects expression ISO RGD:1322275 6480464 Tetrachlorodibenzodioxin affects the expression of ETHE1 mRNA CTD PMID:21570461 2,4-dinitrotoluene affects expression ISO RGD:1311034 6480464 2,4-dinitrotoluene affects the expression of ETHE1 mRNA CTD PMID:21346803 benzo[a]pyrene multiple interactions ISO RGD:1322275 6480464 [Benzo(a)pyrene co-treated with XPA gene mutant form co-treated with TRP53 gene mutant form] results in increased expression of ETHE1 mRNA CTD PMID:21715664 cadmium dichloride affects expression ISO RGD:1311034 6480464 Cadmium Chloride affects the expression of ETHE1 mRNA CTD PMID:22110744 clofibrate multiple interactions ISO RGD:1322275 6480464 [Clofibrate co-treated with Acetaminophen] affects the expression of ETHE1 mRNA; more ... CTD PMID:17585979 clofibric acid affects expression ISO RGD:1311034 6480464 Clofibric Acid affects the expression of ETHE1 mRNA CTD PMID:17602206 copper(2+) sulfate increases expression ISO RGD:1322275 6480464 Copper Sulfate results in increased expression of ETHE1 mRNA CTD PMID:18579281 cyclosporin A decreases expression EXP 6480464 Cyclosporine results in decreased expression of ETHE1 mRNA CTD PMID:20106945 diarsenic trioxide decreases response to substance EXP 6480464 ETHE1 protein results in decreased susceptibility to arsenic trioxide CTD PMID:20707922 diuron increases expression ISO RGD:1311034 6480464 Diuron results in increased expression of ETHE1 mRNA CTD PMID:21551480 hydrogen peroxide affects expression EXP 6480464 Hydrogen Peroxide affects the expression of ETHE1 mRNA CTD PMID:20044591 methotrexate affects expression ISO RGD:1322275 6480464 Methotrexate affects the expression of ETHE1 mRNA CTD PMID:18502557 paracetamol multiple interactions ISO RGD:1322275 6480464 [Clofibrate co-treated with Acetaminophen] affects the expression of ETHE1 mRNA; more ... CTD PMID:17585979 paracetamol affects expression ISO RGD:1322275 6480464 Acetaminophen affects the expression of ETHE1 mRNA CTD PMID:17562736 pirinixic acid multiple interactions EXP 6480464 [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ETHE1 mRNA CTD PMID:19710929 pirinixic acid decreases expression ISO RGD:1322275 6480464 pirinixic acid results in decreased expression of ETHE1 mRNA CTD PMID:18445702 PMID:15302862 pirinixic acid decreases expression ISO RGD:1322275 6480464 pirinixic acid results in decreased expression of ETHE1 mRNA CTD PMID:15302862 PMID:18445702 pirinixic acid increases expression ISO RGD:1322275 6480464 pirinixic acid results in increased expression of ETHE1 mRNA CTD PMID:17426115 troglitazone decreases expression ISO RGD:1322275 6480464 troglitazone results in decreased expression of ETHE1 protein CTD PMID:18495193 valproic acid affects expression ISO RGD:1322275 6480464 Valproic Acid affects the expression of ETHE1 mRNA CTD PMID:17292431 valproic acid increases expression ISO RGD:1322275 6480464 Valproic Acid results in increased expression of ETHE1 mRNA CTD PMID:21427059
Biological Process cellular nitrogen compound metabolic process TAS 2290271 Reactome:REACT_13 Reactome Reactome:REACT_13 small molecule metabolic process TAS 2290271 Reactome:REACT_111217 Reactome Reactome:REACT_111217 sulfide oxidation, using sulfide:quinone oxidoreductase TAS 2290271 Reactome:REACT_116010 Reactome Reactome:REACT_116010 sulfur amino acid catabolic process TAS 2290271 Reactome:REACT_115654 Reactome Reactome:REACT_115654 sulfur amino acid metabolic process TAS 2290271 Reactome:REACT_115639 Reactome Reactome:REACT_115639 Cellular Component cytoplasm IDA 2290271 GO_REF:0000054 LIFEdb GO_REF:0000054 mitochondrial matrix TAS 2290271 Reactome:REACT_115730 Reactome Reactome:REACT_115730 mitochondrion IDA 2290271 GO_REF:0000052 HPA GO_REF:0000052 nucleolus NOT IDA 2290271 GO_REF:0000052 HPA GO_REF:0000052 nucleus IDA 2290271 GO_REF:0000052 HPA GO_REF:0000052 Molecular Function hydrolase activity IEA UniProtKB-KW:KW-0378 2290271 GO_REF:0000037 UniProtKB GO_REF:0000037 hydrolase activity IEA InterPro:IPR001279 2290271 GO_REF:0000002 InterPro GO_REF:0000002 metal ion binding IEA UniProtKB-KW:KW-0479 2290271 GO_REF:0000037 UniProtKB GO_REF:0000037 sulfur dioxygenase activity TAS 2290271 Reactome:REACT_115730 Reactome Reactome:REACT_115730
1298467 OSTEAR9_H Osteoarthritis QTL 9 (human) 1.83 Joint/bone inflammation hand osteoarthritis 19 31405702 57405702 Human 1331657 COPD9_H Chronic obstructive pulmonary disease QTL 9 (human) 1.94 Chronic airflow obstruction post-bronchodilator FEV1 19 12712793 57533128 Human 1331666 COPD5_H Chronic obstructive pulmonary disease QTL 5 (human) 3.3 Chronic airflow obstruction pre-bronchodilator FEV1 19 21682674 53806756 Human 1357315 AASTH51_H Allergic/atopic asthma related QTL 51 (human) .0005 Reversible airflow obstruction 19 31405702 57405702 Human 1357328 AASTH24_H Allergic/atopic asthma related QTL 24 (human) 1.02 Reversible airflow obstruction post-bronchodilator FEV1 19 29153142 55153142 Human 1559230 SAPOE1_H Serum apolipoprotein E level QTL 1 (human) 4.2 Apolipoprotein level apolipoprotein E level 19 34098157 57667065 Human 1559110 SCL22_H Serum cholesterol level QTL 22 (human) 3.59 .000241 Lipid level LDL cholesterol 19 32410844 58410844 Human 1559124 SCL23_H Serum cholesterol level QTL 23 (human) 3.24 .000617 Lipid level LDL cholesterol 19 31405702 57405702 Human 1559403 SCL118_H Serum cholesterol level QTL 118 (human) 3.16 Lipid level triglyceride 19 31405702 57405702 Human 1581530 BP69_H Blood pressure QTL 69 (human) 2.3 .001 Blood pressure pulse pressure 19 37955747 59110802 Human 1581531 BP78_H Blood pressure QTL 78 (human) 2.3 .001 Blood pressure pulse pressure 19 31405702 57405702 Human 2292899 PRSTS34_H Prostate tumor susceptibility QTL 34 (human) Prostate tumor susceptibility late onset 19 21098259 47098259 Human 2315768 GLUCO148_H Glucose level QTL 148 (human) 2.2 .002 Glucose level 19 18914859 44914859 Human 2314573 GLUCO60_H Glucose level QTL 60 (human) 3.33 .016545 Glucose level fasting 19 40795107 59110802 Human 2302750 MAMTS28_H Mammary tumor susceptibility QTL 28 (human) .054 Mammary tumor susceptibility 20 31405702 57405702 Human 2302745 MAMTS27_H Mammary tumor susceptibility QTL 27 (human) .034 Mammary tumor susceptibility 19 31405702 57405702 Human 2302744 MAMTS26_H Mammary tumor susceptibility QTL 26 (human) .025 Mammary tumor susceptibility 19 31405702 57405702 Human 2300240 PRSTS349_H Prostate tumor susceptibility QTL 349 (human) .0001 Prostate tumor susceptibility 19 35332164 59110802 Human
Gene-Chemical Interaction Annotations
