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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
Physical map
PSG11 19q13.2 pregnancy specific beta-1-glycoprotein 11 CEACAMP8 19q13.2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 8 PSG2 19q13.2 pregnancy specific beta-1-glycoprotein 2 CEACAMP9 19q13.2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 9 PSG5 19q13.2 pregnancy specific beta-1-glycoprotein 5 PSG4 19q13.2 pregnancy specific beta-1-glycoprotein 4 CEACAMP10 19q13.2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 10 PSG9 19q13.2 pregnancy specific beta-1-glycoprotein 9 CEACAMP11 19q13.2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 11 CEACAMP4 19q13.2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 4 PRV1 19q13.2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 4 LOC388547 19 similar to polycythemia rubra vera 1; cell surface receptor MGC4766 19q13.32 testis-specific protein TES101RP C4.4A 19q13.32 GPI-anchored metastasis-associated protein homolog LOC388548 19 similar to LL5 beta LOC284345 19q13.32 similar to LL5 beta ETHE1 LOC284346 19q13.32 hypothetical protein LOC284346 XRCC1 19q13.2 X-ray repair complementing defective repair in Chinese hamster cells 1 LOC390940 19 similar to R28379_1 LOC126298 19q13.32 similar to FKSG27 MGC2508 19q13.32 hypothetical protein MGC2508 MGC51082 19q13.32 hypothetical protein MGC51082 TSLL2 19q13.32 hypothetical protein MGC51082 PLAUR 19q13.2 plasminogen activator, urokinase receptor R30953_1 19q13.32 hypothetical protein R30953_1 FLJ12886 19q13.32 hypothetical protein FLJ12886 KCNN4 19q13.2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 FLJ30469 19q13.32 hypothetical protein FLJ30469 ZNF283 19q13.32 zinc finger protein 283 ZNF404 19q13.32 zinc finger protein 404 ZNF45 19q13.2 zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide) ZNF221 19q13.2 zinc finger protein 221 ZNF155 19q13.2-q13.32 zinc finger protein 155 (pHZ-96) ZNF230 19q13.2 zinc finger protein 230 ZNF222 19q13.2 zinc finger protein 222 ZNF223 19q13.2 zinc finger protein 223
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