Version 5.4
Homo sapiens Gene: ETHE1
Summary
InnateDB Gene IDBG-55225.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ETHE1
Gene Name ethylmalonic encephalopathy 1
Synonyms HSCO; YF13H12
Species Homo sapiens
Ensembl Gene ENSG00000105755
Encoded Proteins
IDBP-55227
ethylmalonic encephalopathy 1
IDBP-762588
IDBP-759998
IDBP-765522
IDBP-765045
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:43506719-43527244
Strand Reverse strand
Band q13.31
Transcripts
ENST00000292147 ENSP00000292147
ENST00000602138 ENSP00000468964
ENST00000598330 ENSP00000469219
ENST00000594342 ENSP00000469652
ENST00000600651 ENSP00000469037
ENST00000595115
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0016787 hydrolase activity
GO:0050313 sulfur dioxygenase activity
Biological Process
GO:0000096 sulfur amino acid metabolic process
GO:0000098 sulfur amino acid catabolic process
GO:0006749 glutathione metabolic process
GO:0008152 metabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0070221 sulfide oxidation, using sulfide:quinone oxidoreductase
GO:0070813 hydrogen sulfide metabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000064254
View Gene Order
ENSBTAG00000004379
Not yet available
Pathways
NETPATH
REACTOME
REACT_116010
Sulfide oxidation to sulfate pathway
REACT_115654
Degradation of cysteine and homocysteine pathway
REACT_115639
Sulfur amino acid metabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00920
Sulfur metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_014297 XM_005258688
HUGO
OMIM
CCDS CCDS12622
HPRD 09764
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca