KEGG   Homo sapiens (human): 23474Help
Entry
23474             CDS       T01001                                 

Gene name
ETHE1, HSCO, YF13H12
Definition
ethylmalonic encephalopathy 1 (EC:1.13.11.18)
Orthology
K17725  
sulfur dioxygenase [EC:1.13.11.18]
Organism
hsa  Homo sapiens (human)
Pathway
Sulfur metabolism
Disease
H01249  
Ethylmalonic encephalopathy (EE)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Energy metabolism
   00920 Sulfur metabolism
    23474 (ETHE1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.13  Acting on single donors with incorporation of molecular oxygen (oxygenases)
   1.13.11  With incorporation of two atoms of oxygen
    1.13.11.18  sulfur dioxygenase
     23474 (ETHE1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial protein import machinery
  Matrix
   Other matrix factors
    23474 (ETHE1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
19q13.31
AA seq 254 aa AA seqDB search
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPR
DAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRLSGAQADLHIEDGDSI
RFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHE
KIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFA
VPANMRCGVQTPTA
NT seq 765 nt NT seq  +upstreamnt  +downstreamnt
atggcggaggctgtactgagggtcgcccggcggcagctgagccagcgcggcgggtctgga
gcccccatcctcctgcggcagatgttcgagcctgtgagctgcaccttcacgtacctgctg
ggtgacagagagtcccgggaggccgttctgatcgacccagtcctggaaacagcgcctcgg
gatgcccagctgatcaaggagctggggctgcggctgctctatgctgtgaatacccactgc
cacgcggaccacattacaggctcggggctgctccgttccctcctccctggctgccagtct
gtcatctcccgccttagtggggcccaggctgacttacacattgaggatggagactccatc
cgcttcgggcgcttcgcgttggagaccagggccagccctggccacaccccaggctgtgtc
accttcgtcctgaatgaccacagcatggccttcactggagatgccctgttgatccgtggg
tgtgggcggacagacttccagcaaggctgtgccaagaccttgtaccactcggtccatgaa
aagatcttcacacttccaggagactgtctgatctaccctgctcacgattaccatgggttc
acagtgtccaccgtggaggaggagaggactctgaaccctcggctcaccctcagctgtgag
gagtttgtcaaaatcatgggcaacctgaacttgcctaaacctcagcagatagactttgct
gttccagccaacatgcgctgtggggtgcagacacccactgcctga

DBGET integrated database retrieval system