KEGG   Homo sapiens (human): 4719
Entry
4719              CDS       T01001                                 
Symbol
NDUFS1, CI-75Kd, CI-75k, MC1DN5, PRO1304
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S1
  KO
K03934  NADH dehydrogenase (ubiquinone) Fe-S protein 1 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00143  NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria
Network
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06529  Thermogenesis
  Element
N00995  Electron transfer in Complex I
N00997  Mutation-caused aberrant Abeta to electron transfer in Complex I
N01042  Mutation-caused aberrant SNCA to electron transfer in Complex I
N01043  Mutation-inactivated PINK1 to electron transfer in Complex I
N01044  MPP+ to electron transfer in Complex I
N01045  Rotenone to electron transfer in Complex I
N01136  Mutation-caused aberrant TDP43 to electron transfer in Complex I
N01691  mitochondrial complex - UCP1 in Thermogenesis
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4719 (NDUFS1)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4719 (NDUFS1)
  09159 Environmental adaptation
   04714 Thermogenesis
    4719 (NDUFS1)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4719 (NDUFS1)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4719 (NDUFS1)
   05012 Parkinson disease
    4719 (NDUFS1)
   05014 Amyotrophic lateral sclerosis
    4719 (NDUFS1)
   05016 Huntington disease
    4719 (NDUFS1)
   05020 Prion disease
    4719 (NDUFS1)
   05022 Pathways of neurodegeneration - multiple diseases
    4719 (NDUFS1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4719 (NDUFS1)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4719 (NDUFS1)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4719 (NDUFS1)
SSDB
Motif
Pfam: Molybdopterin Fer2_4 NADH-G_4Fe-4S_3 NADH_dhqG_C Fer2
Other DBs
NCBI-GeneID: 4719
NCBI-ProteinID: NP_004997
OMIM: 157655
HGNC: 7707
Ensembl: ENSG00000023228
UniProt: P28331 E5KRK5
Structure
Position
2:complement(206114817..206159444)
AA seq 727 aa
MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQI
PRFCYHERLSVAGNCRMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFL
LANHPLDCPICDQGGECDLQDQSMMFGNDRSRFLEGKRAVEDKNIGPLVKTIMTRCIQCT
RCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSELSGNIIDICPVGALTSKPYAFTA
RPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHEDINEEWISDKTRFAYDGLKRQ
RLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEALVALKDLLNR
VDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRK
SWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIASGSHPFSQVLKEAKKPMVVLGSSA
LQRNDGAAILAAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAALDLGYKPGVEAIRKN
PPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTE
GRAQQTKVAVTPPGLAREDWKIIRALSEIAGMTLPYDTLDQVRNRLEEVSPNLVRYDDIE
GANYFQQANELSKLVNQQLLADPLVPPQLTIKDFYMTDSISRASQTMAKCVKAVTEGAQA
VEEPSIC
NT seq 2184 nt   +upstreamnt  +downstreamnt
atgttaaggatacctgtaagaaaggccttagtaggcctttctaagtctcctaaaggatgt
gttcgaacaactgccacagcagcaagcaacttgattgaagtatttgttgatggtcagtct
gtcatggtggaaccgggaacgaccgtcctccaagcttgtgagaaggttggcatgcagatc
cctcgattctgttatcatgaaaggttgtctgttgctggaaactgcaggatgtgccttgtt
gaaattgagaaagcccctaaggttgtagctgcttgtgccatgccagtaatgaagggttgg
aatatcctaacaaactcagaaaaatccaaaaaagccagggaaggtgtgatggagttctta
ttagcaaatcacccattggactgtcctatttgtgaccagggaggtgaatgtgatctgcag
gaccagtccatgatgtttggaaatgataggagccgatttttagaggggaagcgtgctgtg
gaagacaagaacattgggccattggtaaagaccatcatgacaagatgtatacagtgtact
cgctgcatcaggtttgcaagtgagattgcaggagtagatgatttgggaacaacaggcaga
ggaaatgatatgcaagttggcacatacattgaaaagatgttcatgtctgaactgtctggg
aatatcattgatatctgccctgtaggtgccctaacctctaagccctatgcctttactgcc
cggccttgggaaacaagaaagacagaatccattgatgtaatggatgcggttggaagtaat
attgtggttagcacaagaactggagaagtgatgaggattttgccacgtatgcatgaggac
atcaatgaagagtggatctctgataaaaccagatttgcctatgatgggctaaaacgtcaa
agacttaccgagccaatggtcagaaatgaaaaagggcttttaacctatacttcttgggag
gatgcgctctctcgcgtagctggaatgttgcagagttttcaaggcaaagatgtggcagca
attgcaggtggcttggtggatgctgaagccctggtagctctcaaagatttgcttaataga
gtggactctgacaccttatgcactgaagaggtcttccccactgcaggagctggcacagat
ttgcgttccaattatcttcttaatactacaattgctggtgtggaagaggcagatgttgtt
cttctggttggtacaaacccacgttttgaggcaccactgtttaatgctagaattcgaaag
agctggctgcataatgacttaaaagtggcccttataggcagtccagtggacctcacttac
acatatgaccacctgggagactcccccaaaattcttcaagacattgcttcgggaagccat
ccatttagccaggtcctaaaggaagctaaaaaaccaatggtggttttaggcagttctgca
ctccaaagaaatgatggagcagcaattcttgcagctgtttctagcattgcacaaaagatt
cggatgactagtggtgttactggtgattggaaagttatgaatatccttcataggattgca
agtcaagtagctgctttggaccttggctataagcctggggtggaagcaattcggaagaac
cctcccaaggtgctgtttctcctgggagcagatggaggttgtatcacacgacaggatttg
ccaaaggattgtttcattatttatcaaggacatcatggtgatgttggggctcccatagct
gatgttattctcccaggagctgcttacacagagaagtctgctacatatgtcaacactgag
ggtagagctcagcagactaaggtagcagtgacacctcctggcttggcaagagaagactgg
aaaattataagagcactctctgagattgctggaatgactcttccatatgatactctggat
caagtaaggaacagattggaagaagtctctcctaatcttgttcgatatgatgatattgaa
ggggctaattacttccagcaagcaaatgagctctcaaagctagtgaaccagcagcttctt
gctgacccacttgttccacctcagctaactataaaagacttctacatgacagattcaatt
agcagagcctcacagacaatggccaaatgtgtcaaagctgtcacagagggtgcccaggca
gtagaggaaccatccatatgctga

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