KEGG   Homo sapiens (human): 2110Help
Entry
2110              CDS       T01001                                 

Gene name
ETFDH, ETFQO, MADD
Definition
(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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ETF_QO Thi4 DAO FAD_binding_2 NAD_binding_8 Lycopene_cycl Pyr_redox_2 FAD_binding_3 NAD_binding_9 HI0933_like Pyr_redox_3 FAD_oxidored Fer4_7 Trp_halogenase K_oxygenase GIDA AlaDh_PNT_C
Motif
Other DBs
NCBI-GeneID: 2110
NCBI-ProteinID: NP_004444
OMIM: 231675
HGNC: 3483
Ensembl: ENSG00000171503
Vega: OTTHUMG00000161684
Pharos: Q16134(Tbio)
UniProt: Q16134 B4DEQ0
Position
4q32.1
AA seq 617 aa AA seqDB search
MLVPLAKLSCLAYQCFHALKIKKNYLPLCATRWSSTSTVPRITTHYTIYPRDKDKRWEGV
NMERFAEEADVVIVGAGPAGLSAAVRLKQLAVAHEKDIRVCLVEKAAQIGAHTLSGACLD
PGAFKELFPDWKEKGAPLNTPVTEDRFGILTEKYRIPVPILPGLPMNNHGNYIVRLGHLV
SWMGEQAEALGVEVYPGYAAAEVLFHDDGSVKGIATNDVGIQKDGAPKATFERGLELHAK
VTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLKELWVIDEKNWKPGRVDHTVGWPLD
RHTYGGSFLYHLNEGEPLVALGLVVGLDYQNPYLSPFREFQRWKHHPSIRPTLEGGKRIA
YGARALNEGGFQSIPKLTFPGGLLIGCSPGFMNVPKIKGTHTAMKSGILAAESIFNQLTS
ENLQSKTIGLHVTEYEDNLKNSWVWKELYSVRNIRPSCHGVLGVYGGMIYTGIFYWILRG
MEPWTLKHKGSDFERLKPAKDCTPIEYPKPDGQISFDLLSSVALSGTNHEHDQPAHLTLR
DDSIPVNRNLSIYDGPEQRFCPAGVYEFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQN
INWVVPEGGGGPAYNGM
NT seq 1854 nt NT seq  +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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