ETHE1 - ETHE1 persulfide dioxygenase Gene

Also Known as HSCO; YF13H12

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23474

About ETHE1

Cytogenetic location: 19q13.31 Genomic coordinates (GRCh38): 19:43,506,719-43,527,201 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in colon (RPKM 85.9), duodenum (RPKM 30.9) and 20 other tissues.

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 this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

ETHE1 Products (4)

mRNA	Protein	Name
NM_001320867.2	NP_001307796.1	persulfide dioxygenase ETHE1, mitochondrial isoform 2
NM_001320868.2	NP_001307797.1	persulfide dioxygenase ETHE1, mitochondrial isoform 3
NM_001320869.2	NP_001307798.1	persulfide dioxygenase ETHE1, mitochondrial isoform 4
NM_014297.5	NP_055112.2	persulfide dioxygenase ETHE1, mitochondrial isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables iron ion binding	IDA IDA: Inferred from direct assay	23144459	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sulfur dioxygenase activity	IDA IDA: Inferred from direct assay	23144459	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glutathione metabolic process	IDA IDA: Inferred from direct assay	23144459	GOA
involved in hydrogen sulfide metabolic process	IDA IDA: Inferred from direct assay	23144459	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ETHE1 Protein Structure

Lactamase_B

0
100
200
254 a.a.

Protein Preferred Names	Protein Names
persulfide dioxygenase ETHE1, mitochondrial	ethylmalonic encephalopathy 1

ETHE1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ETHE1	O95571	ATG9A	Homo sapiens	Q7Z3C6-3	Validated Y2H	32296183
Intra	ETHE1	O95571	KRTAP19-2	Homo sapiens	Q3LHN2	Y2H Array	32296183
Intra	ETHE1	O95571	KRTAP19-2	Homo sapiens	Q3LHN2	Y2H Prey Pooling	32296183
Intra	ETHE1	O95571	KRTAP19-2	Homo sapiens	Q3LHN2	Validated Y2H	32296183
Intra	ETHE1	O95571	TXN2	Homo sapiens	Q99757	Validated Y2H	32296183
Intra	ETHE1	O95571	IGSF21	Homo sapiens	Q96ID5	Y2H Pooling	16169070
Intra	ETHE1	O95571	GORASP2	Homo sapiens	Q9H8Y8	Validated Y2H	32296183
Intra	ETHE1	O95571	ATP6V1H	Homo sapiens	Q9UI12	Y2H Pooling	16169070
Intra	ETHE1	O95571	GORASP2	Homo sapiens	Q9H8Y8	Y2H Prey Pooling	32296183
Intra	ETHE1	O95571	GORASP2	Homo sapiens	Q9H8Y8	Y2H Array	32296183
Intra	ETHE1	O95571	ETHE1	Homo sapiens	O95571	Y2H Prey Pooling	32296183
Intra	ETHE1	O95571	ETHE1	Homo sapiens	O95571	Validated Y2H	32296183
Intra	ETHE1	O95571	ETHE1	Homo sapiens	O95571	Y2H Array	32296183
Intra	ETHE1	O95571	ilvD	Bacillus anthracis	Q81S26	Y2H Pooling	20711500
Intra	ETHE1	O95571	RIF1	Homo sapiens	Q5UIP0	Y2H Pooling	16169070

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ETHE1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76324	ETHE1 Protein, Human (His)	O95571 (L13-A254)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Encephalopathy, Ethylmalonic	Ethylmalonic Encephalopathy EE Epema Syndrome Encephalopathy, Petechiae, And Ethylmalonic Aciduria Ethe1 Deficiency Eme Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria
Encephalopathy	Brain Diseases Encephalopathies Toxic Encephalopathy Toxic Brain Fever Toxic Brain Inflammation Toxic Brain Stem Inflammation Toxic Cerebral Fever Toxic Cerebrospinal Fever Toxic Cerebrospinal Inflammation Encephalopathy Nec Encephalopathy Nos Encephalopathy Disease Encephalopathy Syndrome
Mitochondrial Metabolism Disease	Abnormality Of Mitochondrial Metabolism Mitochondrial Diseases
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Mitochondrial Dna Depletion Syndrome 5	Succinate-Coa Ligase Deficiency Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria MTDPS5 Booth-Haworth-Dilling Syndrome Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Mitochondrial Dna Depletion Syndrome-5 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive Mitochondrial Encephalomyopathy Aminoacidopathy Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria Succinate-Coenzyme A Ligase Deficiency Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Mitochondrial Dna Depletion Syndrome, Type 5
Acute Ethmoiditis	Acute Ethmoidal Sinusitis Acute Ethmoid Sinusitis Ethmoidal Sinus - Acute
Sulfite Oxidase Deficiency, Isolated	Sulfite Oxidase Deficiency Sulfocysteinuria Isolated Sulfite Oxidase Deficiency ISOD Encephalopathy Due To Sulfite Oxidase Deficiency
Sulfhemoglobinemia
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Scad Deficiency Acads Deficiency Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency Scadh Deficiency Short-Chain Acyl-Coa Dehydrogenase Deficiency Deficiency Of Butyryl-Coa Dehydrogenase Short Chain Acyl-Coa Dehydrogenase Deficiency ACADSD Scadd Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of Acyl-Coa Dehydrogenase Short-Chain Deficiency
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Fumarase Deficiency	Fumaric Aciduria FMRD Fumarate Hydratase Deficiency Deficiency, Fumarase
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04558	ETHE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20919	Ethe1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27436	Ethe1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ETHE1	VGNC	VGNC:61977
Macaca mulatta	ETHE1	VGNC	VGNC:72320
Rattus norvegicus	ETHE1	RGD	RGD:1311034
Canis familiaris	ETHE1	VGNC	VGNC:40491
Mus musculus	ETHE1	MGD	MGI:1913321
Bos taurus	ETHE1	VGNC	VGNC:28623
Others	ETHE1	NCBI