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Ethylmalonic encephalopathy protein 1 (ETHE1 protein, hepatoma subtracted clone one protein, ETHE1, HSCO)
Function:
1) metabolic homeostasis in mitochondria (putative)
2) nuclear-cytoplasmic shuttling protein
- binds transcription factor RELA/NFKB3 in the nucleus & exports it to the cytoplasm
3) suppresses p53-induced apoptosis by preventing nuclear localization of RELA
Structure:
1) belongs to the glyoxalase 2 family
2) binds 2 Zn+2 per subunit
Compartment: cytoplasm, nucleus, mitochondrial matrix
Expression: ubiquitously expressed
Pathology:
- defects in ETHE1 are a cause of ethylmalonic encephalopathy
General
metalloprotein
mitochondrial protein
nuclear protein
Properties
SIZE: MW = 28 kD
entity length = 254 aa
COMPARTMENT: mitochondrial matrix
cytoplasm
cell nucleus
MOTIF: Zn+2-binding site
SITE: 79-79
Zn+2-binding site
SITE: 81-81
Zn+2-binding site
SITE: 83-83
Zn+2-binding site
SITE: 84-84
Zn+2-binding site
SITE: 135-135
Zn+2-binding site
SITE: 154-154
Zn+2-binding site
SITE: 195-195
Database Correlations
OMIM correlations
UniProt O95571
Pfam PF00753
References
- UniProt :accession O95571
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ETHE1