KEGG   Homo sapiens (human): 137682
Entry
137682            CDS       T01001                                 

Gene name
NDUFAF6, C8orf38, FRTS5, MC1DN17
Definition
(RefSeq) NADH:ubiquinone oxidoreductase complex assembly factor 6
  KO
K18163  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa04714  Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    137682 (NDUFAF6)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    137682 (NDUFAF6)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial respiratory chain complex assembly factors
   Complex-I assembly factors
    137682 (NDUFAF6)
SSDB
Motif
Pfam: SQS_PSY
Other DBs
NCBI-GeneID: 137682
NCBI-ProteinID: NP_689629
OMIM: 612392
HGNC: 28625
Ensembl: ENSG00000156170
Vega: OTTHUMG00000150173
Pharos: Q330K2(Tbio)
UniProt: Q330K2
Position
8q22.1
AA seq 333 aa
MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGPGAWGTDHY
CLELLRKRDYEGYLCSLLLPAESRSSVFALRAFNVELAQVKDSVSEKTIGLMRMQFWKKT
VEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAEN
TQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHG
VSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKK
IQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY
NT seq 1002 nt   +upstreamnt  +downstreamnt
atggcggcctccgcgcacggctctgtctgggggccgttgcggcttggcatccccggcctg
tgctgccgccggccgcctctgggtctgtacgcgcgcatgcggcggctgcccgggccggag
gtgtctgggcggagcgtggctgcggccagcggaccgggcgcctggggcactgaccactac
tgcctggagctgctgcggaaacgggattatgaaggttatttatgctccctgctgctccct
gcagaatcccgaagctctgtttttgcactgagggcctttaatgtggaactggctcaggtt
aaagactcagtctctgagaaaacaattggactgatgcgaatgcagttttggaaaaaaact
gtggaagatatatactgtgacaatccaccacatcagcctgtggccattgaactatggaag
gctgttaaaagacataatctgactaaaagatggcttatgaaaatcgtcgatgaaagagaa
aaaaatctggatgacaaagcatatcgtaatatcaaggaactggaaaattatgctgaaaac
acacagagctctcttctttacttaacactagaaatattgggtataaaggatcttcatgca
gatcatgctgcaagtcatattggaaaagcacaaggcattgtcacttgcttgagagcaaca
ccatatcatgggagcagaagaaaggtgttccttcccatggatatttgtatgctgcatggt
gtttcacaagaggactttctacggaggaaccaagataaaaatgtgagagatgtaatatat
gacattgccagtcaagcacacttgcacctaaagcatgctaggtcctttcacaaaactgtt
cctgtgaaagcatttcctgcttttcttcagacggtttctctagaggactttctaaagaaa
attcagcgagtggattttgatatattccacccatctttacagcagaagaatacattactt
ccattatatttgtatattcagtcatggagaaaaacatattaa

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