KEGG   Homo sapiens (human): 137682
Entry
137682            CDS       T01001                                 
Symbol
NDUFAF6, C8orf38, FRTS5, MC1DN17
Name
(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
Network
nt06529  Thermogenesis
  Element
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
H01198  Fanconi renotubular syndrome
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
UniProt: Q330K2
Position
8:94895799..95118496
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (6)   
   KEGG DISEASE (3)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (22)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (20)   
DNA sequence (67)   
   RefSeq(nuc) (33)   
   GenBank (17)   
   EMBL (17)   
Protein domain (1)   
   Pfam (1)   
All databases (125)   

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