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ETHE1

GENERAL INFORMATION

Gene name

 ETHE1

Gene description

 Ethylmalonic encephalopathy 1

Protein class

 Cancer-related genes
Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA028360 , HPA029028 , HPA029029
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ETHE1 (HGNC Symbol)

Synonyms

 HSCO, YF13H12

Description

 Ethylmalonic encephalopathy 1 (HGNC Symbol)

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]

Chromosome

 19

Cytoband

 q13.31

Chromosome location (bp)

 43506719 - 43527244

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000105755 (version 83.38)

Entrez gene

 23474

UniProt

 O95571 (UniProt - Evidence at protein level)

neXtProt

 NX_O95571

Antibodypedia

 ETHE1 antibodies

PROTEIN BROWSER
ETHE1-001
ETHE1-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ETHE1-001
ENSP00000292147
ENST00000292147
O95571 [Direct mapping]
Persulfide dioxygenase ETHE1, mitochondrial
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000096 [sulfur amino acid metabolic process]
GO:0000098 [sulfur amino acid catabolic process]
GO:0005506 [iron ion binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006749 [glutathione metabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0050313 [sulfur dioxygenase activity]
GO:0070221 [sulfide oxidation, using sulfide:quinone oxidoreductase]
GO:0070813 [hydrogen sulfide metabolic process]
Show all
 254 aa
27.9 kDa 		No 0
ETHE1-004
ENSP00000469037
ENST00000600651
M0QXB5 [Direct mapping]
Persulfide dioxygenase ETHE1, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
Show all
 260 aa
28.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.