ETHE1

GENERAL INFORMATION

? »

Gene name

ETHE1

Gene description

Ethylmalonic encephalopathy 1

Protein class

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

Predicted localization

Intracellular

Number of transcripts

2
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression at variable levels in all cell types.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA028360 , HPA029028 , HPA029029
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 78.38)

Entrez gene

23474

UniProt

O95571 (UniProt - Evidence at protein level)

neXtProt

NX_O95571

Antibodypedia

ETHE1 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000292147
 
ENST00000600651
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ETHE1-001 ENSP00000292147
ENST00000292147
O95571
Show all »
Show » Show » 254 27.9 No 0
ETHE1-004 ENSP00000469037
ENST00000600651
M0QXB5
Show all »
Show » Show » 260 28.4 No 0