RBP Type	Canonical_RBPs
Diseases	Disease
Drug	N.A.
Main interacting RNAs	N.A.
Moonlighting functions	Metabolic enzyme
Localizations	N.A.
BulkPerturb-seq

Ensembl ID	ENSG00000105755	Gene ID	23474	Accession	23287
Symbol	ETHE1	Alias	HSCO;YF13H12	Full Name	ETHE1 persulfide dioxygenase
Status	Confidence	Length	20504 bases	Strand	Minus strand
Position	19 : 43506719 - 43527222	RNA binding domain	Lactamase_B
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]

Protein	Domain	Pfam ID	E-value	Domain number
ENSP00000292147	Lactamase_B	PF00753	5.3e-17	1
ENSP00000469037	Lactamase_B	PF00753	5.6e-17	1

Pubmed ID	Full Name	Cell	Author	Time	Doi

Pubmed ID	Title	Author	Time	Journal

Name	Transcript ID	bp	Protein	Translation ID
ETHE1-201	ENST00000292147	920	254aa	ENSP00000292147
ETHE1-202	ENST00000594342	702	95aa	ENSP00000469652
ETHE1-205	ENST00000600651	1052	260aa	ENSP00000469037
ETHE1-204	ENST00000598330	915	95aa	ENSP00000469219
ETHE1-206	ENST00000602138	648	51aa	ENSP00000468964
ETHE1-203	ENST00000595115	593	No protein	-

Pathway ID	Pathway Name	Source

ensgID	Trait	pValue	Pubmed ID
45556	Platelet Function Tests	6.2326877E-007	-
45560	Platelet Function Tests	4.6526470E-007	-

ensgID	SNP	Chromosome	Position	Trait	PubmedID	Or or BEAT	EFO ID

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Go ID	Go term	No. evidence	Entries	Species	Category
GO:0005506	enables iron ion binding	1	IDA	Homo_sapiens(9606)	Function
GO:0005515	enables protein binding	1	IPI	Homo_sapiens(9606)	Function
GO:0005654	located_in nucleoplasm	1	IDA	Homo_sapiens(9606)	Component
GO:0005737	located_in cytoplasm	1	IDA	Homo_sapiens(9606)	Component
GO:0005739	is_active_in mitochondrion	2	IBA,IDA	Homo_sapiens(9606)	Component
GO:0005759	located_in mitochondrial matrix	1	TAS	Homo_sapiens(9606)	Component
GO:0006749	involved_in glutathione metabolic process	2	IBA,IDA	Homo_sapiens(9606)	Process
GO:0042802	enables identical protein binding	1	IPI	Homo_sapiens(9606)	Function
GO:0050313	enables sulfur dioxygenase activity	2	IBA,IDA	Homo_sapiens(9606)	Function
GO:0070813	involved_in hydrogen sulfide metabolic process	2	IBA,IDA	Homo_sapiens(9606)	Process