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FLASH GENE
Symbol ETHE1 contributors: mct/npt/pgu - updated : 20-04-2013
HGNC name ethylmalonic encephalopathy 1
HGNC id 23287
Corresponding disease
ETHE1 encephalopathy, ethylmalonic
Location 19q13.31      Physical location : 44.010.871 - 44.031.396
Synonym name hepatoma subtracted clone one protein
Synonym symbol(s) HSCO, YF13H12, D83198
EC.number 3.-.-.-
DNA
TYPE functioning gene
STRUCTURE 20.53 kb     7 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 978 28 254 - 2004 14732903
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 intestinelarge intestinecolon highly
 pharynx   highly
Endocrinethyroid    
Nervousbrainforebraincerebral lobefrontal 
cells
SystemCellPubmedSpeciesStageRna symbol
Lymhoid/Immunelymphocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal sequence of 24 amino acids whose residues with similarity to those of mitochondrial leader peptides
  • a beta-lactamase metal-binding domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to murine Ethe1
    ortholog to rattus Ethe1_predicted
    intraspecies homolog to HAGH
    Homologene
    FAMILY
  • metallo-beta-lactamase superfamily
  • glyoxalase II family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,nucleus
    text actively translocated across the inner mitochondrial membrane
    basic FUNCTION
  • playing an important role in mitochondrial homeostasis and energy metabolism
  • mitochondrial sulfur dioxygenase involved in catabolism of sulfide that accumulates to toxic levels in ethylmalonic encephalopathy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ETHE1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS