KEGG   Homo sapiens (human): 79133Help
Entry
79133             CDS       T01001                                 

Gene name
NDUFAF5, C20orf7, MC1DN16, bA526K24.2, dJ842G6.1
Definition
(RefSeq) NADH:ubiquinone oxidoreductase complex assembly factor 5
  KO
K18162  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5 [EC:2.1.1.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    79133 (NDUFAF5)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    79133 (NDUFAF5)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.-  
     79133 (NDUFAF5)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-I assembly factors
    79133 (NDUFAF5)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Methyltransf_11 Methyltransf_23 Methyltransf_25 Methyltransf_12 Methyltransf_31 Ubie_methyltran Methyltransf_29 MetW MTS Methyltransf_7 Methyltransf_18 Methyltransf_32
Motif
Other DBs
NCBI-GeneID: 79133
NCBI-ProteinID: NP_077025
OMIM: 612360
HGNC: 15899
Ensembl: ENSG00000101247
Vega: OTTHUMG00000031909
Pharos: Q5TEU4(Tbio)
UniProt: Q5TEU4
Position
20p12.1
AA seq 345 aa AA seqDB search
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAA
RQPEPTKFDYLKEEVGSRIADRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADI
AENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLSLHWVNDLPRALEQIHYILKP
DGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD
TDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPAT
YQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ
NT seq 1038 nt NT seq  +upstreamnt  +downstreamnt
atgctgcggccggcagggctctggcgcttatgtcggcgaccttgggcggcgagggtccca
gcggagaatcttggccgtagggaagtcacctctggtgtctctccccgcggtagcacctcg
cccagaaccctgaatattttcgaccgggatttgaaaaggaaacagaagaactgggcagcc
cggcagcccgagccgaccaaatttgactacctgaaggaggaggttggaagtcggatcgca
gaccgtgtatatgacatacccagaaatttcccccttgctttggatcttggttgtggaaga
ggttacattgcacaatatttgaataaggaaactattggaaagtttttccaagctgacatt
gcagaaaatgctttgaaaaattcctcagaaacagaaatacctactgtcagcgttttagct
gatgaagaattccttcccttcaaagaaaatacatttgacctggtggttagcagtttaagt
ttgcattgggtgaatgaccttcctagagcacttgagcagattcattatattttaaaacca
gatggagtgtttatcggtgcaatgtttggaggcgacacactctatgaacttcggtgttcc
ttacagttagcggaaacggaaagggaaggaggattttctccacacatttctcctttcact
gctgtcaatgacctgggacatctgcttgggagagctggctttaatactctgactgtggac
actgatgaaattcaagttaactatcctggaatgtttgaattgatggaagatttacaaggt
atgggtgagagtaactgtgcttggaatagaaaagccctgctgcatcgagacacaatgctg
gcagctgcggcagtgtacagagaaatgtacagaaatgaagatggttcagtacctgctaca
taccagatctattacatgataggatggaaatatcatgagtcacaggcaagaccagctgaa
agaggttccgcaactgtgtcatttggagagctaggaaaaataaacaaccttatgccaccg
gggaaaaaatcacaataa

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