KEGG   Homo sapiens (human): 4728Help
Entry
4728              CDS       T01001                                 

Gene name
NDUFS8, CI-23k, CI23KD, TYKY
Definition
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S8
  KO
K03941  NADH dehydrogenase (ubiquinone) Fe-S protein 8 [EC:1.6.5.3 1.6.99.3]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease (NAFLD)
hsa05010  Alzheimer's disease
hsa05012  Parkinson's disease
hsa05016  Huntington's disease
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Energy metabolism
   00190 Oxidative phosphorylation
    4728 (NDUFS8)
 Organismal Systems
  Nervous system
   04723 Retrograde endocannabinoid signaling
    4728 (NDUFS8)
  Environmental adaptation
   04714 Thermogenesis
    4728 (NDUFS8)
 Human Diseases
  Neurodegenerative diseases
   05010 Alzheimer's disease
    4728 (NDUFS8)
   05012 Parkinson's disease
    4728 (NDUFS8)
   05016 Huntington's disease
    4728 (NDUFS8)
  Endocrine and metabolic diseases
   04932 Non-alcoholic fatty liver disease (NAFLD)
    4728 (NDUFS8)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.6  Acting on NADH or NADPH
   1.6.5  With a quinone or similar compound as acceptor
    1.6.5.3  NADH:ubiquinone reductase (H+-translocating)
     4728 (NDUFS8)
   1.6.99  With unknown physiological acceptors
    1.6.99.3  NADH dehydrogenase
     4728 (NDUFS8)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Fer4 Fer4_7 Fer4_16 Fer4_21 Fer4_9 Fer4_10 Fer4_6 Fer4_8 Fer4_2 Fer4_4 Fer4_17 c-SKI_SMAD_bind Fer4_13 Fer4_18 Fer4_3
Motif
Other DBs
NCBI-GeneID: 4728
NCBI-ProteinID: NP_002487
OMIM: 602141
HGNC: 7715
Ensembl: ENSG00000110717
Vega: OTTHUMG00000167331
Pharos: O00217(Tclin)
UniProt: O00217
Structure
PDB: 

Position
11q13.2
AA seq 210 aa AA seqDB search
MRCLTTPMLLRALAQAARAGPPGGRSLHSSAVAATYKYVNMQDPEMDMKSVTDRAARTLL
WTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRGEHALRRYPSGEERCIACKLCEAI
CPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQEACPVDAIVEGPNFEFSTETHEE
LLYNKEKLLNNGDKWEAEIAANIQADYLYR
NT seq 633 nt NT seq  +upstreamnt  +downstreamnt
atgcgctgcctgaccacgcctatgctgctgcgggccctggcccaggctgcacgtgcagga
cctcctggtggccggagcctccacagcagtgcagtggcagccacctacaagtatgtgaac
atgcaggatcccgagatggacatgaagtcagtgactgaccgggcagcccgcaccctgctg
tggactgagctcttccgaggcctgggcatgaccctgagctacctgttccgggaaccggcc
accatcaactacccgttcgagaagggcccgctgagccctcgcttccgtggggagcatgcg
ctgcgccggtacccatccggggaggagcgttgcattgcctgcaagctctgcgaggccatc
tgccccgcccaggccatcaccatcgaggctgagccaagagctgatggcagccgccggacc
acccgctatgacatcgacatgaccaagtgcatctactgcggcttctgccaggaggcctgt
cccgtggatgccatcgtcgagggccccaactttgagttctccacggagacccatgaggag
ctgctgtacaacaaggagaagttgctcaacaacggggacaagtgggaggccgagatcgcc
gccaacatccaggctgactacttgtatcggtga

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