Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23474
Gene name	ETHE1 persulfide dioxygenase
Gene symbol	ETHE1
Synonyms (NCBI Gene)	HSCOYF13H12
Chromosome	19
Chromosome location	19q13.31
Summary	This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in thi

Show/Hide all (31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940289	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs119103249	C>A,T	Pathogenic	5 prime UTR variant, initiator codon variant, missense variant
rs182983506	A>G	Pathogenic	Missense variant, 5 prime UTR variant, intron variant, coding sequence variant
rs368778231	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant
rs387906987	A>C	Pathogenic	Coding sequence variant, missense variant
rs745656120	C>T	Pathogenic	Coding sequence variant, missense variant
rs749803238	G>A,T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, missense variant
rs756235299	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs761661864	A>C	Likely-pathogenic	Splice donor variant
rs761827730	CT>-	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, frameshift variant
rs763799125	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs768669208	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs769259233	C>T	Pathogenic	Intron variant
rs863223955	->T	Pathogenic	Stop gained, frameshift variant, intron variant, coding sequence variant, initiator codon variant
rs863223956	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs935855792	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1211555765	CGGGG>-,CGGGGCGGGG	Pathogenic	Upstream transcript variant
rs1268640442	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs1284200516	T>C	Pathogenic	Coding sequence variant, missense variant
rs1317633085	G>A	Pathogenic	Missense variant, coding sequence variant
rs1555761934	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555762070	->G	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1555762722	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555762753	CCATGCTGTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555765481	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555765524	C>A	Likely-pathogenic	Intron variant, splice donor variant
rs1555765528	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant, initiator codon variant
rs1555765564	T>C	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs1555765689	G>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1555765701	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1600019095	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant

Show/Hide all (13)

miRTarBase ID	miRNA	Experiments
MIRT2222210	hsa-miR-1321	CLIP-seq
MIRT2222211	hsa-miR-3153	CLIP-seq
MIRT2222212	hsa-miR-3162-5p	CLIP-seq
MIRT2222213	hsa-miR-4300	CLIP-seq
MIRT2222214	hsa-miR-4317	CLIP-seq
MIRT2222215	hsa-miR-4428	CLIP-seq
MIRT2222216	hsa-miR-4668-5p	CLIP-seq
MIRT2222217	hsa-miR-4685-5p	CLIP-seq
MIRT2222218	hsa-miR-4739	CLIP-seq
MIRT2222219	hsa-miR-4746-3p	CLIP-seq
MIRT2222220	hsa-miR-4756-5p	CLIP-seq
MIRT2222221	hsa-miR-616	CLIP-seq
MIRT2222222	hsa-miR-920	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IDA	23144459
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006749	Process	Glutathione metabolic process	IBA
GO:0006749	Process	Glutathione metabolic process	IDA	23144459
GO:0006749	Process	Glutathione metabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0046872	Function	Metal ion binding	IEA
GO:0050313	Function	Sulfur dioxygenase activity	IBA
GO:0050313	Function	Sulfur dioxygenase activity	IDA	23144459
GO:0050313	Function	Sulfur dioxygenase activity	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0070813	Process	Hydrogen sulfide metabolic process	IBA
GO:0070813	Process	Hydrogen sulfide metabolic process	IDA	23144459

MIM	HGNC	e!Ensembl
608451	23287	ENSG00000105755

O95571

Protein name

Persulfide dioxygenase ETHE1, mitochondrial (EC 1.13.11.18) (Ethylmalonic encephalopathy protein 1) (Hepatoma subtracted clone one protein) (Sulfur dioxygenase ETHE1)

Protein function

Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to cata

PDB

4CHL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00753	Lactamase_B	31 → 195	Metallo-beta-lactamase superfamily	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:14732903}.

Sequence

MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPR
DAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRLSGAQADLHIEDGDSI
RFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHE
KIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFA
VPANMRCGVQTPTA

Sequence length

254

Interactions

View interactions

	KEGG		Reactome
	Sulfur metabolism Metabolic pathways		Sulfide oxidation to sulfate

400

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic	rs1555762722	RCV001814171
Ethylmalonic encephalopathy	Likely pathogenic; Pathogenic	rs2146021370, rs2145979349, rs2145977281, rs863223954, rs2145977394, rs2145984865, rs2146018812, rs2146019063, rs2146019689, rs28940289, rs119103249, rs2513603665, rs2513598932, rs1470124674, rs2513631545 View all (51 more)	RCV001385547 RCV001989465 RCV001923044 RCV002000629 RCV001874236 RCV001883579 RCV001920091 RCV002007524 RCV001963246 RCV000002407 RCV000002408 RCV002509828 RCV002463984 RCV003079234 RCV003118677 RCV002658079 RCV002643327 RCV002843064 RCV002921945 RCV001377167 RCV000276936 RCV001272531 RCV003038856 RCV003145014 RCV003338213 RCV003467947 RCV003460030 RCV003460031 RCV003460032 RCV003460033 RCV003467948 RCV003476399 RCV003467949 RCV003467950 RCV003460034 RCV003467951 RCV003498076 RCV003498998 RCV003499018 RCV003499913 RCV003498294 RCV003604027 RCV003604638 RCV003604501 RCV003604771 RCV003605022 RCV003602914 RCV003822200 RCV004576418 RCV004576419 RCV004576420 RCV004586319 RCV004595306 RCV000023703 RCV000495931 RCV000501489 RCV000503577 RCV000578436 RCV000578329 RCV000589263 RCV000587866 RCV000598827 RCV000599262 RCV000598926 RCV000598580 RCV000599476 RCV000598891 RCV000598849 RCV000599349 RCV000644795 RCV000700806 RCV000755051 RCV000779260 RCV000792939 RCV001202525 RCV001205475

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs199921503	RCV005890795
Cervical cancer	Benign	rs199921503	RCV005890796
ETHE1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs766437972, rs199827754, rs138958351, rs1971848708, rs139119694, rs142193567	RCV003946076 RCV003927839 RCV004757161 RCV003893696 RCV003928030 RCV003908319
Familial cancer of breast	Benign	rs199921503	RCV005890794
Gastric cancer	Benign	rs199921503	RCV005890798
Lung cancer	Likely benign; Benign	rs375313283, rs199921503	RCV005912776 RCV005890800
Sarcoma	Benign	rs199921503	RCV005890797
Thymoma	Benign	rs199921503	RCV005890799
Uterine corpus endometrial carcinoma	Benign	rs199921503	RCV005890801

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Brain Diseases	Associate	36891747
Brain Diseases Metabolic Inborn	Associate	30391543
Carcinogenesis	Associate	34593420
Carcinoma Hepatocellular	Associate	14732903
Colonic Neoplasms	Associate	34593420
Colorectal Neoplasms	Stimulate	34593420
Diarrhea	Associate	36891747
Drug Related Side Effects and Adverse Reactions	Associate	25198162
Eosinophilic Esophagitis	Associate	27771676
Ethylmalonic encephalopathy	Associate	14732903, 16183799, 23144459, 25198162, 27771676, 29980601, 30391543, 30864297, 35165146, 36891747, 37834012
Ethylmalonic encephalopathy	Inhibit	31477743
Headache	Associate	36891747
Hypersensitivity Delayed	Associate	36891747
Hypertension	Associate	38042639
Leigh Disease	Associate	36093993
Metabolism Inborn Errors	Associate	23144459
Microvascular Angina	Associate	35165146
Mitochondrial Diseases	Associate	31477743
Neoplasm Metastasis	Associate	37834012
Neoplasms	Associate	34593420, 37834012
Synovitis	Associate	29968759
Triple Negative Breast Neoplasms	Associate	37834012

ETHE1 (ETHE1 persulfide dioxygenase)