KEGG   Homo sapiens (human): 2110
Entry
2110              CDS       T01001                                 
Symbol
ETFDH, ETFQO, MADD
Name
(RefSeq) electron transfer flavoprotein dehydrogenase
  KO
K00311  electron-transferring-flavoprotein dehydrogenase [EC:1.5.5.1]
Organism
hsa  Homo sapiens (human)
Disease
H00178  Glutaric acidemia
H01400  Secondary hyperammonemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09191 Unclassified: metabolism
   99980 Enzymes with EC numbers
    2110 (ETFDH)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.5  Acting on the CH-NH group of donors
   1.5.5  With a quinone or similar compound as acceptor
    1.5.5.1  electron-transferring-flavoprotein dehydrogenase
     2110 (ETFDH)
SSDB
Motif
Pfam: ETF_QO ETFQO_UQ-bd DAO Thi4 FAD_binding_2 NAD_binding_8 Pyr_redox_2 Lycopene_cycl FAD_binding_3 NAD_binding_9 HI0933_like Fer4_7 FAD_oxidored Pyr_redox_3 Trp_halogenase GIDA
Other DBs
NCBI-GeneID: 2110
NCBI-ProteinID: NP_004444
OMIM: 231675
HGNC: 3483
Ensembl: ENSG00000171503
UniProt: Q16134 B4DEQ0
Position
4:158672296..158709623
AA seq 617 aa
MLVPLAKLSCLAYQCFHALKIKKNYLPLCATRWSSTSTVPRITTHYTIYPRDKDKRWEGV
NMERFAEEADVVIVGAGPAGLSAAVRLKQLAVAHEKDIRVCLVEKAAQIGAHTLSGACLD
PGAFKELFPDWKEKGAPLNTPVTEDRFGILTEKYRIPVPILPGLPMNNHGNYIVRLGHLV
SWMGEQAEALGVEVYPGYAAAEVLFHDDGSVKGIATNDVGIQKDGAPKATFERGLELHAK
VTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLKELWVIDEKNWKPGRVDHTVGWPLD
RHTYGGSFLYHLNEGEPLVALGLVVGLDYQNPYLSPFREFQRWKHHPSIRPTLEGGKRIA
YGARALNEGGFQSIPKLTFPGGLLIGCSPGFMNVPKIKGTHTAMKSGILAAESIFNQLTS
ENLQSKTIGLHVTEYEDNLKNSWVWKELYSVRNIRPSCHGVLGVYGGMIYTGIFYWILRG
MEPWTLKHKGSDFERLKPAKDCTPIEYPKPDGQISFDLLSSVALSGTNHEHDQPAHLTLR
DDSIPVNRNLSIYDGPEQRFCPAGVYEFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQN
INWVVPEGGGGPAYNGM
NT seq 1854 nt   +upstreamnt  +downstreamnt
atgctggtgccgctagccaagctgtcctgcctggcatatcagtgctttcatgccttaaaa
attaagaaaaattatctacctctatgtgctacaagatggtcttcaacttctactgtgcct
cgaattactacccattatactatttatccccgggataaggacaagagatgggaaggagtg
aacatggaaaggtttgcagaagaagcagatgttgtaatagttggtgcaggccctgcaggg
ctctctgcagctgttcgtctaaaacagttggctgtggcacatgaaaaggacatccgtgtg
tgtctagtggagaaagctgcccagataggagctcatactctctcaggggcttgccttgat
ccaggtgcttttaaagaactcttcccagactggaaagagaagggggctccacttaacact
cctgtaacagaagacagatttggaattttaacagagaaatacagaattcctgtgccaatt
cttccagggcttccaatgaataatcatggcaattacattgtacgcttgggacatttagtg
agctggatgggcgaacaagcagaagcccttggtgttgaagtataccctggttatgcagct
gctgaggtcctttttcatgatgatggtagtgtaaaaggaattgccactaacgatgtaggg
atacaaaaggatggtgcaccaaaggcaacatttgagagaggactggaactacatgctaaa
gtcacaatttttgcagaaggttgccatggacatctagccaagcaactatataagaagttt
gatttgagagcaaattgtgaacctcaaacctacgggattggactgaaggagttatgggtt
attgatgaaaagaactggaaacctgggagagtagatcacactgttggttggcccttggac
agacatacctatggaggatctttcctctatcatttgaatgaaggtgaacccctagtagct
cttggtcttgtggttggtctagactatcagaatccatacctgagtccatttagagagttc
caaaggtggaaacaccatcctagcattcggccaaccttggaaggtggaaaaaggattgca
tacggagccagagctctcaatgaaggtggctttcagtctataccaaaactcacctttcct
ggtggtttactaattggttgtagtcctggttttatgaatgttcccaagatcaaaggtact
cacacagcaatgaaaagtggaattttagcagcagaatctatttttaatcaactaactagt
gaaaatctccaatcaaagacaataggactccatgtaactgaatatgaggacaatttgaag
aactcatgggtatggaaagagctatattctgttagaaatataagaccgtcctgccacgga
gtactgggtgtatatggagggatgatttacactggaatcttttactggatattgagagga
atggagccgtggactctgaaacataaaggttctgactttgaacggctcaagccagccaag
gattgcacacctattgagtatccaaaacccgatggacagatcagttttgacctcttgtca
tctgtggctctgagtggtactaatcatgaacatgaccagccggcacacttaaccttaagg
gatgacagtatacctgtaaatagaaatctgtcgatatatgatgggcccgagcagcgattc
tgtcctgcaggagtttatgaatttgtacctgtggaacaaggtgatggatttcggttacag
ataaatgctcagaactgtgtacattgtaaaacatgtgatattaaagatccaagtcagaat
attaactgggtggtacctgaaggtggaggaggacctgcttacaatggaatgtaa

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Ontology (2)   
   KEGG BRITE (2)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (33)   
   RefSeq(nuc) (3)   
   GenBank (15)   
   EMBL (15)   
Protein domain (16)   
   Pfam (16)   
All databases (77)   

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