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Gene Model: Ethe1

NomenclatureGenomic Location
SymbolEthe1Chromosome1
NameEthylmalonic encephalopathy
protein 1		Linkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr1: 96 Mbp

Molecular Function

Probably plays an important role in metabolic homeostasis in mitochondria. May function as a nuclear-cytoplasmic shuttling protein that binds transcription factor RELA/NFKB3 in the nucleus and exports it to the cytoplasm. Suppresses p53-induced apoptosis by preventing nuclear localization of RELA.

Molecular Function Terms:

binding
   ion binding
      cation binding
         metal ion binding

catalytic activity
   hydrolase activity

Human Disease Association

Defects in ETHE1 are a cause of ethylmalonic encephalopathy (EE) [MIM:602473]. EE is an autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria.

Predicted Transcript
     1 AAGCTCTTTGAATCAGAAAGCTTCACCTATACCTACTTGCTGGCAGATGCGACAACCAAG
    61 GAGGCAGTTCTGATAGACCCAGTTCTGGAGACGGCCAAGAGAGATTCAACCCTGGTGAAG
   121 CAACTAGGACTTAATTTGCTCTATGCGGTCAACACCCATTGCCATGCCGATCACATCACA
   181 GGCACAGGACTCCTGAAGAATCTGCTGCCAGGCTGCCGAAGTGTCATCGCCAAAGCCAGT
   241 GGTGCTTCTGCTGATATCCTCATCCAGGAAGGGCATCTCCTGAAGTTTGGGACATTTGCC
   301 TTGGAGGCCCGTGCCACCCCTGGGCACACAGACGGCTGCTTGACCTATGTACTGAATGAC
   361 AAAGGGATGGCCTTCACTGGGGATGCTTTGCTGATCCGAGGCTGTGGACGGACAGACTTC
   421 CAGCAAGGTTGCCCAAATACCCTCTACCGGTCGGTCCATGAGAAAATCTTCACGCTGCCT
   481 GGAGACTGCCTGATCTACCCTGCCCATGACTATACAGGCCAAACTGTTTCCACAGTGGAA
   541 GAAGAGAGAACCCTGAATCCTCGCTTGACCTTATCCCGGGAAGCCTTTGTGGAACTGATG
   601 AACAATCTGAATCTGCCCAAACCCAAACAGATCGATTTTGCAGTACCTGCTAACCTCAAG
   661 TGTGGAATCCAAGATGTACCTGCCTAG

Predicted Protein Product
KLFESESFTYTYLLADATTKEAVLIDPVLETAKRDSTLVKQLGLNLLYAVNTHCHADHIT
GTGLLKNLLPGCRSVIAKASGASADILIQEGHLLKFGTFALEARATPGHTDGCLTYVLND
KGMAFTGDALLIRGCGRTDFQQGCPNTLYRSVHEKIFTLPGDCLIYPAHDYTGQTVSTVE
EERTLNPRLTLSREAFVELMNNLNLPKPKQIDFAVPANLKCGIQDVPA
Protein Alignment to Mouse
sp|Q9DCM0|ETHE1_MOUSE Protein ETHE1, mitochondrial OS=Mus musculus GN=Ethe1
            PE=1 SV=2
      MGI:1913321 Ethe1 ethylmalonic encephalopathy 1 (Chr 7)
        Length = 254

 Score = 921 (329.3 bits), Expect = 3.7e-93, P = 3.7e-93
 Identities = 169/228 (74%), Positives = 200/228 (87%)

Query:     1 KLFESESFTYTYLLADATTKEAVLIDPVLETAKRDSTLVKQLGLNLLYAVNTHCHADHIT 60
             ++FE +S TYTYLL D  ++EAVLIDPVLETA RD+ L+K+LGL LLYAVNTHCHADHIT
Sbjct:    27 QMFEPKSCTYTYLLGDRESREAVLIDPVLETAHRDAQLIKELGLKLLYAVNTHCHADHIT 86

Query:    61 GTGLLKNLLPGCRSVIAKASGASADILIQEGHLLKFGTFALEARATPGHTDGCLTYVLND 120
             GTG+L++LLPGC+SVI++ SGA AD+ I EG  ++FG FALE RA+PGHT GC+T+VLND
Sbjct:    87 GTGVLRSLLPGCQSVISRLSGAQADLHIGEGDSIRFGRFALETRASPGHTPGCVTFVLND 146

Query:   121 KGMAFTGDALLIRGCGRTDFQQGCPNTLYRSVHEKIFTLPGDCLIYPAHDYTGQTVSTVE 180
             + MAFTGDALLIRGCGRTDFQQGC  TLY SVHEKIFTLPG+CLIYPAHDY G TVSTVE
Sbjct:   147 QSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGNCLIYPAHDYHGLTVSTVE 206

Query:   181 EERTLNPRLTLSREAFVELMNNLNLPKPKQIDFAVPANLKCGIQDVPA 228
             EERTLNPRLTLS E F+++M+NLNLPKP+QID AVPAN++CG+Q  P+
Sbjct:   207 EERTLNPRLTLSCEEFIKVMDNLNLPKPQQIDIAVPANMRCGVQTPPS 254