KEGG   Homo sapiens (human): 4535
Entry
4535              CDS       T01001                                 
Symbol
ND1, MTND1, MT-ND1
Name
(RefSeq) NADH dehydrogenase subunit 1
  KO
K03878  NADH-ubiquinone oxidoreductase chain 1 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
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_M00142  NADH:ubiquinone oxidoreductase, mitochondria
Network
nt06418  Oxidative phosphorylation
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  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
Disease
H00068  Leber hereditary optic atrophy
H00473  Mitochondrial complex I deficiency
H01347  MELAS syndrome
H01365  Leber hereditary optic neuropathy and dystonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4535 (ND1)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4535 (ND1)
  09159 Environmental adaptation
   04714 Thermogenesis
    4535 (ND1)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4535 (ND1)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4535 (ND1)
   05012 Parkinson disease
    4535 (ND1)
   05014 Amyotrophic lateral sclerosis
    4535 (ND1)
   05016 Huntington disease
    4535 (ND1)
   05020 Prion disease
    4535 (ND1)
   05022 Pathways of neurodegeneration - multiple diseases
    4535 (ND1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4535 (ND1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    4535 (ND1)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of hydrons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4535 (ND1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial DNA-encoded proteins
   Mitochondrial respiratory chain complex I
    4535 (ND1)
SSDB
Motif
Pfam: NADHdh
Other DBs
NCBI-GeneID: 4535
NCBI-ProteinID: YP_003024026
OMIM: 516000
HGNC: 7455
Pharos: P03886(Tclin)
UniProt: P03886 U5Z754
Structure
LinkDB
Position
MT:3307..4262
AA seq 318 aa
MPMANLLLLIVPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFADAMKLFTKEP
LKPATSTITLYITAPTLALTIALLLWTPLPMPNPLVNLNLGLLFILATSSLAVYSILWSG
WASNSNYALIGALRAVAQTISYEVTLAIILLSTLLMSGSFNLSTLITTQEHLWLLLPSWP
LAMMWFISTLAETNRTPFDLAEGESELVSGFNIEYAAGPFALFFMAEYTNIIMMNTLTTT
IFLGTTYDALSPELYTTYFVTKTLLLTSLFLWIRTAYPRFRYDQLMHLLWKNFLPLTLAL
LMWYVSMPITISSIPPQT
NT seq 956 nt   +upstreamnt  +downstreamnt
atacccatggccaacctcctactcctcattgtacccattctaatcgcaatggcattccta
atgcttaccgaacgaaaaattctaggctatatacaactacgcaaaggccccaacgttgta
ggcccctacgggctactacaacccttcgctgacgccataaaactcttcaccaaagagccc
ctaaaacccgccacatctaccatcaccctctacatcaccgccccgaccttagctctcacc
atcgctcttctactatgaacccccctccccatacccaaccccctggtcaacctcaaccta
ggcctcctatttattctagccacctctagcctagccgtttactcaatcctctgatcaggg
tgagcatcaaactcaaactacgccctgatcggcgcactgcgagcagtagcccaaacaatc
tcatatgaagtcaccctagccatcattctactatcaacattactaataagtggctccttt
aacctctccacccttatcacaacacaagaacacctctgattactcctgccatcatgaccc
ttggccataatatgatttatctccacactagcagagaccaaccgaacccccttcgacctt
gccgaaggggagtccgaactagtctcaggcttcaacatcgaatacgccgcaggccccttc
gccctattcttcatagccgaatacacaaacattattataataaacaccctcaccactaca
atcttcctaggaacaacatatgacgcactctcccctgaactctacacaacatattttgtc
accaagaccctacttctaacctccctgttcttatgaattcgaacagcatacccccgattc
cgctacgaccaactcatacacctcctatgaaaaaacttcctaccactcaccctagcatta
cttatatgatatgtctccatacccattacaatctccagcattccccctcaaaccta

KEGG   Homo sapiens (human): 4536
Entry
4536              CDS       T01001                                 
Symbol
ND2, MTND2, MT-ND2
Name
(RefSeq) NADH dehydrogenase subunit 2
  KO
K03879  NADH-ubiquinone oxidoreductase chain 2 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
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_M00142  NADH:ubiquinone oxidoreductase, mitochondria
Network
nt06418  Oxidative phosphorylation
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  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
Disease
H00068  Leber hereditary optic atrophy
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4536 (ND2)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4536 (ND2)
  09159 Environmental adaptation
   04714 Thermogenesis
    4536 (ND2)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4536 (ND2)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4536 (ND2)
   05012 Parkinson disease
    4536 (ND2)
   05014 Amyotrophic lateral sclerosis
    4536 (ND2)
   05016 Huntington disease
    4536 (ND2)
   05020 Prion disease
    4536 (ND2)
   05022 Pathways of neurodegeneration - multiple diseases
    4536 (ND2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4536 (ND2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    4536 (ND2)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of hydrons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4536 (ND2)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial DNA-encoded proteins
   Mitochondrial respiratory chain complex I
    4536 (ND2)
SSDB
Motif
Pfam: Proton_antipo_M NADH_dehy_S2_C
Other DBs
NCBI-GeneID: 4536
NCBI-ProteinID: YP_003024027
OMIM: 516001
HGNC: 7456
Pharos: P03891(Tclin)
UniProt: P03891 A0A1X7RBG6 Q7GXY9
Structure
LinkDB
Position
MT:4470..5511
AA seq 347 aa
MNPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYF
LTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQ
GTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILA
YSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWL
TPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYST
SITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL
NT seq 1042 nt   +upstreamnt  +downstreamnt
attaatcccctggcccaacccgtcatctactctaccatctttgcaggcacactcatcaca
gcgctaagctcgcactgattttttacctgagtaggcctagaaataaacatgctagctttt
attccagttctaaccaaaaaaataaaccctcgttccacagaagctgccatcaagtatttc
ctcacgcaagcaaccgcatccataatccttctaatagctatcctcttcaacaatatactc
tccggacaatgaaccataaccaatactaccaatcaatactcatcattaataatcataata
gctatagcaataaaactaggaatagccccctttcacttctgagtcccagaggttacccaa
ggcacccctctgacatccggcctgcttcttctcacatgacaaaaactagcccccatctca
atcatataccaaatctctccctcactaaacgtaagccttctcctcactctctcaatctta
tccatcatagcaggcagttgaggtggattaaaccaaacccagctacgcaaaatcttagca
tactcctcaattacccacataggatgaataatagcagttctaccgtacaaccctaacata
accattcttaatttaactatttatattatcctaactactaccgcattcctactactcaac
ttaaactccagcaccacgaccctactactatctcgcacctgaaacaagctaacatgacta
acacccttaattccatccaccctcctctccctaggaggcctgcccccgctaaccggcttt
ttgcccaaatgggccattatcgaagaattcacaaaaaacaatagcctcatcatccccacc
atcatagccaccatcaccctccttaacctctacttctacctacgcctaatctactccacc
tcaatcacactactccccatatctaacaacgtaaaaataaaatgacagtttgaacataca
aaacccaccccattcctccccacactcatcgcccttaccacgctactcctacctatctcc
ccttttatactaataatcttat

KEGG   Homo sapiens (human): 4537
Entry
4537              CDS       T01001                                 
Symbol
ND3, MTND3, MT-ND3
Name
(RefSeq) NADH dehydrogenase subunit 3
  KO
K03880  NADH-ubiquinone oxidoreductase chain 3 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
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_M00142  NADH:ubiquinone oxidoreductase, mitochondria
Network
nt06418  Oxidative phosphorylation
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  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
Disease
H00473  Mitochondrial complex I deficiency
H01355  Kearns-Sayre syndrome
H01365  Leber hereditary optic neuropathy and dystonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4537 (ND3)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4537 (ND3)
  09159 Environmental adaptation
   04714 Thermogenesis
    4537 (ND3)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4537 (ND3)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4537 (ND3)
   05012 Parkinson disease
    4537 (ND3)
   05014 Amyotrophic lateral sclerosis
    4537 (ND3)
   05016 Huntington disease
    4537 (ND3)
   05020 Prion disease
    4537 (ND3)
   05022 Pathways of neurodegeneration - multiple diseases
    4537 (ND3)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4537 (ND3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    4537 (ND3)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of hydrons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4537 (ND3)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial DNA-encoded proteins
   Mitochondrial respiratory chain complex I
    4537 (ND3)
SSDB
Motif
Pfam: Oxidored_q4 SHP
Other DBs
NCBI-GeneID: 4537
NCBI-ProteinID: YP_003024033
OMIM: 516002
HGNC: 7458
Pharos: P03897(Tclin)
UniProt: P03897 Q7GXZ5
Structure
LinkDB
Position
MT:10059..10404
AA seq 115 aa
MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAI
TFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE
NT seq 346 nt   +upstreamnt  +downstreamnt
ataaacttcgccttaattttaataatcaacaccctcctagccttactactaataattatt
acattttgactaccacaactcaacggctacatagaaaaatccaccccttacgagtgcggc
ttcgaccctatatcccccgcccgcgtccctttctccataaaattcttcttagtagctatt
accttcttattatttgatctagaaattgccctccttttacccctaccatgagccctacaa
acaactaacctgccactaatagttatgtcatccctcttattaatcatcatcctagcccta
agtctggcctatgagtgactacaaaaaggattagactgaaccgaat

KEGG   Homo sapiens (human): 4538
Entry
4538              CDS       T01001                                 
Symbol
ND4, MTND4, MT-ND4, LHON
Name
(RefSeq) NADH dehydrogenase subunit 4
  KO
K03881  NADH-ubiquinone oxidoreductase chain 4 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
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_M00142  NADH:ubiquinone oxidoreductase, mitochondria
Network
nt06418  Oxidative phosphorylation
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  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
Disease
H00068  Leber hereditary optic atrophy
H00473  Mitochondrial complex I deficiency
H01355  Kearns-Sayre syndrome
H01365  Leber hereditary optic neuropathy and dystonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4538 (ND4)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4538 (ND4)
  09159 Environmental adaptation
   04714 Thermogenesis
    4538 (ND4)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4538 (ND4)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4538 (ND4)
   05012 Parkinson disease
    4538 (ND4)
   05014 Amyotrophic lateral sclerosis
    4538 (ND4)
   05016 Huntington disease
    4538 (ND4)
   05020 Prion disease
    4538 (ND4)
   05022 Pathways of neurodegeneration - multiple diseases
    4538 (ND4)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4538 (ND4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    4538 (ND4)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of hydrons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4538 (ND4)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial DNA-encoded proteins
   Mitochondrial respiratory chain complex I
    4538 (ND4)
SSDB
Motif
Pfam: Proton_antipo_M Oxidored_q5_N
Other DBs
NCBI-GeneID: 4538
NCBI-ProteinID: YP_003024035
OMIM: 516003
HGNC: 7459
Pharos: P03905(Tclin)
UniProt: P03905 A0A1X7RBN5 H9EC08
Structure
LinkDB
Position
MT:10760..12137
AA seq 459 aa
MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDP
LTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYI
FFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLT
LTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGG
YGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTA
ILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWL
LASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLT
HHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS
NT seq 1378 nt   +upstreamnt  +downstreamnt
atgctaaaactaatcgtcccaacaattatattactaccactgacatgactttccaaaaaa
cacataatttgaatcaacacaaccacccacagcctaattattagcatcatccctctacta
ttttttaaccaaatcaacaacaacctatttagctgttccccaaccttttcctccgacccc
ctaacaacccccctcctaatactaactacctgactcctacccctcacaatcatggcaagc
caacgccacttatccagtgaaccactatcacgaaaaaaactctacctctctatactaatc
tccctacaaatctccttaattataacattcacagccacagaactaatcatattttatatc
ttcttcgaaaccacacttatccccaccttggctatcatcacccgatgaggcaaccagcca
gaacgcctgaacgcaggcacatacttcctattctacaccctagtaggctcccttccccta
ctcatcgcactaatttacactcacaacaccctaggctcactaaacattctactactcact
ctcactgcccaagaactatcaaactcctgagccaacaacttaatatgactagcttacaca
atagcttttatagtaaagatacctctttacggactccacttatgactccctaaagcccat
gtcgaagcccccatcgctgggtcaatagtacttgccgcagtactcttaaaactaggcggc
tatggtataatacgcctcacactcattctcaaccccctgacaaaacacatagcctacccc
ttccttgtactatccctatgaggcataattataacaagctccatctgcctacgacaaaca
gacctaaaatcgctcattgcatactcttcaatcagccacatagccctcgtagtaacagcc
attctcatccaaaccccctgaagcttcaccggcgcagtcattctcataatcgcccacggg
cttacatcctcattactattctgcctagcaaactcaaactacgaacgcactcacagtcgc
atcataatcctctctcaaggacttcaaactctactcccactaatagctttttgatgactt
ctagcaagcctcgctaacctcgccttaccccccactattaacctactgggagaactctct
gtgctagtaaccacgttctcctgatcaaatatcactctcctacttacaggactcaacata
ctagtcacagccctatactccctctacatatttaccacaacacaatggggctcactcacc
caccacattaacaacataaaaccctcattcacacgagaaaacaccctcatgttcatacac
ctatcccccattctcctcctatccctcaaccccgacatcattaccgggttttcctctt

KEGG   Homo sapiens (human): 4540
Entry
4540              CDS       T01001                                 
Symbol
ND5, MTND5, MT-ND5
Name
(RefSeq) NADH dehydrogenase subunit 5
  KO
K03883  NADH-ubiquinone oxidoreductase chain 5 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
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_M00142  NADH:ubiquinone oxidoreductase, mitochondria
Network
nt06418  Oxidative phosphorylation
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  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
Disease
H00068  Leber hereditary optic atrophy
H00473  Mitochondrial complex I deficiency
H01347  MELAS syndrome
H01355  Kearns-Sayre syndrome
H01356  Myoclonic Epilepsy and Ragged-Red Fiber Disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4540 (ND5)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4540 (ND5)
  09159 Environmental adaptation
   04714 Thermogenesis
    4540 (ND5)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4540 (ND5)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4540 (ND5)
   05012 Parkinson disease
    4540 (ND5)
   05014 Amyotrophic lateral sclerosis
    4540 (ND5)
   05016 Huntington disease
    4540 (ND5)
   05020 Prion disease
    4540 (ND5)
   05022 Pathways of neurodegeneration - multiple diseases
    4540 (ND5)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4540 (ND5)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    4540 (ND5)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of hydrons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4540 (ND5)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial DNA-encoded proteins
   Mitochondrial respiratory chain complex I
    4540 (ND5)
SSDB
Motif
Pfam: Proton_antipo_M NADH5_C Proton_antipo_N
Other DBs
NCBI-GeneID: 4540
NCBI-ProteinID: YP_003024036
OMIM: 516005
HGNC: 7461
Pharos: P03915(Tclin)
UniProt: P03915 U5ZC31
Structure
LinkDB
Position
MT:12337..14148
AA seq 603 aa
MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQE
VIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKY
LLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDI
GFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGP
TPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKK
IVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMG
GLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTS
AYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQT
TIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYL
GLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLL
LIT
NT seq 1812 nt   +upstreamnt  +downstreamnt
ataaccatgcacactactataaccaccctaaccctgacttccctaattccccccatcctt
accaccctcgttaaccctaacaaaaaaaactcatacccccattatgtaaaatccattgtc
gcatccacctttattatcagtctcttccccacaacaatattcatgtgcctagaccaagaa
gttattatctcgaactgacactgagccacaacccaaacaacccagctctccctaagcttc
aaactagactacttctccataatattcatccctgtagcattgttcgttacatggtccatc
atagaattctcactgtgatatataaactcagacccaaacattaatcagttcttcaaatat
ctactcatcttcctaattaccatactaatcttagttaccgctaacaacctattccaactg
ttcatcggctgagagggcgtaggaattatatccttcttgctcatcagttgatgatacgcc
cgagcagatgccaacacagcagccattcaagcaatcctatacaaccgtatcggcgatatc
ggtttcatcctcgccttagcatgatttatcctacactccaactcatgagacccacaacaa
atagcccttctaaacgctaatccaagcctcaccccactactaggcctcctcctagcagca
gcaggcaaatcagcccaattaggtctccacccctgactcccctcagccatagaaggcccc
accccagtctcagccctactccactcaagcactatagttgtagcaggaatcttcttactc
atccgcttccaccccctagcagaaaatagcccactaatccaaactctaacactatgctta
ggcgctatcaccactctgttcgcagcagtctgcgcccttacacaaaatgacatcaaaaaa
atcgtagccttctccacttcaagtcaactaggactcataatagttacaatcggcatcaac
caaccacacctagcattcctgcacatctgtacccacgccttcttcaaagccatactattt
atgtgctccgggtccatcatccacaaccttaacaatgaacaagatattcgaaaaatagga
ggactactcaaaaccatacctctcacttcaacctccctcaccattggcagcctagcatta
gcaggaatacctttcctcacaggtttctactccaaagaccacatcatcgaaaccgcaaac
atatcatacacaaacgcctgagccctatctattactctcatcgctacctccctgacaagc
gcctatagcactcgaataattcttctcaccctaacaggtcaacctcgcttccccaccctt
actaacattaacgaaaataaccccaccctactaaaccccattaaacgcctggcagccgga
agcctattcgcaggatttctcattactaacaacatttcccccgcatcccccttccaaaca
acaatccccctctacctaaaactcacagccctcgctgtcactttcctaggacttctaaca
gccctagacctcaactacctaaccaacaaacttaaaataaaatccccactatgcacattt
tatttctccaacatactcggattctaccctagcatcacacaccgcacaatcccctatcta
ggccttcttacgagccaaaacctgcccctactcctcctagacctaacctgactagaaaag
ctattacctaaaacaatttcacagcaccaaatctccacctccatcatcacctcaacccaa
aaaggcataattaaactttacttcctctctttcttcttcccactcatcctaaccctactc
ctaatcacataa

KEGG   Homo sapiens (human): 4541
Entry
4541              CDS       T01001                                 
Symbol
ND6, MTND6, MT-ND6
Name
(RefSeq) NADH dehydrogenase subunit 6
  KO
K03884  NADH-ubiquinone oxidoreductase chain 6 [EC:7.1.1.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
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_M00142  NADH:ubiquinone oxidoreductase, mitochondria
Network
nt06418  Oxidative phosphorylation
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  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
Disease
H00068  Leber hereditary optic atrophy
H00473  Mitochondrial complex I deficiency
H01347  MELAS syndrome
H01355  Kearns-Sayre syndrome
H01365  Leber hereditary optic neuropathy and dystonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4541 (ND6)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4541 (ND6)
  09159 Environmental adaptation
   04714 Thermogenesis
    4541 (ND6)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4541 (ND6)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4541 (ND6)
   05012 Parkinson disease
    4541 (ND6)
   05014 Amyotrophic lateral sclerosis
    4541 (ND6)
   05016 Huntington disease
    4541 (ND6)
   05020 Prion disease
    4541 (ND6)
   05022 Pathways of neurodegeneration - multiple diseases
    4541 (ND6)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4541 (ND6)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    4541 (ND6)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of hydrons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4541 (ND6)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial DNA-encoded proteins
   Mitochondrial respiratory chain complex I
    4541 (ND6)
SSDB
Motif
Pfam: Oxidored_q3 DUF6600
Other DBs
NCBI-GeneID: 4541
NCBI-ProteinID: YP_003024037
OMIM: 516006
HGNC: 7462
Pharos: P03923(Tclin)
UniProt: P03923 U5Z977 A0A1X7RCR6
Structure
LinkDB
Position
MT:complement(14149..14673)
AA seq 174 aa
MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYL
GGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNS
VGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN
NT seq 525 nt   +upstreamnt  +downstreamnt
atgatgtatgctttgtttctgttgagtgtgggtttagtaatggggtttgtggggttttct
tctaagccttctcctatttatgggggtttagtattgattgttagcggtgtggtcgggtgt
gttattattctgaattttgggggaggttatatgggtttaatagtttttttaatttattta
gggggaatgatggttgtctttggatatactacagcgatggctattgaggagtatcctgag
gcatgggggtcaggggttgaggtcttggtgagtgttttagtggggttagcgatggaggta
ggattggtgctgtgggtgaaagagtatgatggggtggtggttgtggtaaactttaatagt
gtaggaagctgaataatttatgaaggagaggggtcagggttgattcgggaggatcctatt
ggtgcgggggctttgtatgattatgggcgttgattagtagtagttactggttgaacattg
tttgttggtgtatatattgtaattgagattgctcgggggaatagg

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
nt06418  Oxidative phosphorylation
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  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
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 hydrons
   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
Pharos: P28331(Tclin)
UniProt: P28331 E5KRK5
Structure
LinkDB
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

KEGG   Homo sapiens (human): 4720
Entry
4720              CDS       T01001                                 
Symbol
NDUFS2, CI-49, MC1DN6
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S2
  KO
K03935  NADH dehydrogenase (ubiquinone) Fe-S protein 2 [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
nt06418  Oxidative phosphorylation
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  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
Disease
H00473  Mitochondrial complex I deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4720 (NDUFS2)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4720 (NDUFS2)
  09159 Environmental adaptation
   04714 Thermogenesis
    4720 (NDUFS2)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4720 (NDUFS2)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4720 (NDUFS2)
   05012 Parkinson disease
    4720 (NDUFS2)
   05014 Amyotrophic lateral sclerosis
    4720 (NDUFS2)
   05016 Huntington disease
    4720 (NDUFS2)
   05020 Prion disease
    4720 (NDUFS2)
   05022 Pathways of neurodegeneration - multiple diseases
    4720 (NDUFS2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4720 (NDUFS2)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4720 (NDUFS2)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of hydrons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4720 (NDUFS2)
SSDB
Motif
Pfam: Complex1_49kDa NiFeSe_Hases
Other DBs
NCBI-GeneID: 4720
NCBI-ProteinID: NP_004541
OMIM: 602985
HGNC: 7708
Ensembl: ENSG00000158864
Pharos: O75306(Tclin)
UniProt: O75306
Structure
LinkDB
Position
1:161197417..161214395
AA seq 463 aa
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAH
WKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGT
EKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGL
MDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDD
AKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPY
RCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR
NT seq 1392 nt   +upstreamnt  +downstreamnt
atggcggcgctgagggctttgtgcggcttccggggcgtcgcggcccaggtgctgcggcct
ggggctggagtccgattgccgattcagcccagcagaggtgttcggcagtggcagccagat
gtggaatgggcacagcagtttgggggagctgttatgtacccaagcaaagaaacagcccac
tggaagcctccaccttggaatgatgtggaccctccaaaggacacaattgtgaagaacatt
accctgaactttgggccccaacacccagcagcgcatggtgtcctgcgactagtgatggaa
ttgagtggggagatggtgcggaagtgtgatcctcacatcgggctcctgcaccgaggcact
gagaagctcattgaatacaagacctatcttcaggcccttccatactttgaccggctagac
tatgtgtccatgatgtgtaacgaacaggcctattctctagctgtggagaagttgctaaac
atccggcctcctcctcgggcacagtggatccgagtgctgtttggagaaatcacacgtttg
ttgaaccacatcatggctgtgaccacacatgccctggaccttggggccatgacccctttc
ttctggctgtttgaagaaagggagaagatgtttgagttctacgagcgagtgtctggagcc
cgaatgcatgctgcttatatccggccaggaggagtgcaccaggacctaccccttgggctt
atggatgacatttatcagttttctaagaacttctctcttcggcttgatgagttggaggag
ttgctgaccaacaataggatctggcgaaatcggacaattgacattggggttgtaacagca
gaagaagcacttaactatggttttagtggagtgatgcttcggggctcaggcatccagtgg
gacctgcggaagacccagccctatgatgtttacgaccaggttgagtttgatgttcctgtt
ggttctcgaggggactgctatgataggtacctgtgccgggtggaggagatgcgccagtcc
ctgagaattatcgcacagtgtctaaacaagatgcctcctggggagatcaaggttgatgat
gccaaagtgtctccacctaagcgagcagagatgaagacttccatggagtcactgattcat
cactttaagttgtatactgagggctaccaagttcctccaggagccacatatactgccatt
gaggctcccaagggagagtttggggtgtacctggtgtctgatggcagcagccgcccttat
cgatgcaagatcaaggctcctggttttgcccatctggctggtttggacaagatgtctaag
ggacacatgttggcagatgtcgttgccatcataggtacccaagatattgtatttggagaa
gtagatcggtga

KEGG   Homo sapiens (human): 4722
Entry
4722              CDS       T01001                                 
Symbol
NDUFS3, CI-30, MC1DN8
Name
(RefSeq) NADH:ubiquinone oxidoreductase core subunit S3
  KO
K03936  NADH dehydrogenase (ubiquinone) Fe-S protein 3 [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
nt06418  Oxidative phosphorylation
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  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
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4722 (NDUFS3)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4722 (NDUFS3)
  09159 Environmental adaptation
   04714 Thermogenesis
    4722 (NDUFS3)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4722 (NDUFS3)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4722 (NDUFS3)
   05012 Parkinson disease
    4722 (NDUFS3)
   05014 Amyotrophic lateral sclerosis
    4722 (NDUFS3)
   05016 Huntington disease
    4722 (NDUFS3)
   05020 Prion disease
    4722 (NDUFS3)
   05022 Pathways of neurodegeneration - multiple diseases
    4722 (NDUFS3)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4722 (NDUFS3)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4722 (NDUFS3)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of hydrons
   7.1.1  Linked to oxidoreductase reactions
    7.1.1.2  NADH:ubiquinone reductase (H+-translocating)
     4722 (NDUFS3)
SSDB
Motif
Pfam: Complex1_30kDa
Other DBs
NCBI-GeneID: 4722
NCBI-ProteinID: NP_004542
OMIM: 603846
HGNC: 7710
Ensembl: ENSG00000213619
Pharos: O75489(Tclin)
UniProt: O75489
Structure
LinkDB
Position
11:47579074..47584562
AA seq 264 aa
MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTRPTVRPRNDVAHKQLSA
FGEYVAEILPKYVQQVQVSCFNELEVCIHPDGVIPVLTFLRDHTNAQFKSLVDLTAVDVP
TRQNRFEIVYNLLSLRFNSRIRVKTYTDELTPIESAVSVFKAANWYEREIWDMFGVFFAN
HPDLRRILTDYGFEGHPFRKDFPLSGYVELRYDDEVKRVVAEPVELAQEFRKFDLNSPWE
AFPVYRQPPESLKLEAGDKKPDAK
NT seq 795 nt   +upstreamnt  +downstreamnt
atggcggcggcggcggtagccaggctgtggtggcgcgggatcttgggggcctcggcgctg
accagggggactgggcgaccctccgttctgttgctgccggtgaggcgggagagcgccggg
gccgacacgcgccccactgtcagaccacggaatgatgtggcccacaagcagctctcagct
tttggagagtatgtggctgaaatcttgcccaagtatgtccaacaagttcaggtgtcctgc
ttcaatgagttagaggtctgtatccatcctgatggcgtcatcccagtgctgactttcctc
agggatcacaccaatgcacagttcaaatctctggttgacttgacagcagtggacgtccca
actcggcaaaaccgttttgagattgtctacaacctgttgtctctgcgcttcaactcacgg
atccgtgtgaagacctacacagatgagctgacgcccattgagtctgctgtctctgtgttc
aaggcagccaactggtatgaaagggagatctgggacatgtttggagtcttctttgctaac
caccctgatctaagaaggatcctgacagattatggcttcgagggacatcctttccggaaa
gactttcctctatctggctatgttgagttacgttatgatgatgaagtgaagcgggtggtg
gcagagccggtggagttggcccaagagttccgcaaatttgacctgaacagcccctgggag
gctttcccagtctatcgccaacccccggagagtctcaagcttgaagccggagacaagaag
cctgatgccaagtag

KEGG   Homo sapiens (human): 4724
Entry
4724              CDS       T01001                                 
Symbol
NDUFS4, AQDQ, CI-18, CI-18_kDa, CI-AQDQ, MC1DN1
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit S4
  KO
K03937  NADH dehydrogenase (ubiquinone) Fe-S protein 4
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
nt06418  Oxidative phosphorylation
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  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
Disease
H00473  Mitochondrial complex I deficiency
H01354  Leigh syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4724 (NDUFS4)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4724 (NDUFS4)
  09159 Environmental adaptation
   04714 Thermogenesis
    4724 (NDUFS4)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4724 (NDUFS4)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4724 (NDUFS4)
   05012 Parkinson disease
    4724 (NDUFS4)
   05014 Amyotrophic lateral sclerosis
    4724 (NDUFS4)
   05016 Huntington disease
    4724 (NDUFS4)
   05020 Prion disease
    4724 (NDUFS4)
   05022 Pathways of neurodegeneration - multiple diseases
    4724 (NDUFS4)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4724 (NDUFS4)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4724 (NDUFS4)
SSDB
Motif
Pfam: NDUS4 CSN8_PSD8_EIF3K
Other DBs
NCBI-GeneID: 4724
NCBI-ProteinID: NP_002486
OMIM: 602694
HGNC: 7711
Ensembl: ENSG00000164258
Pharos: O43181(Tclin)
UniProt: O43181 A0A0S2Z433
Structure
LinkDB
Position
5:53560639..53683338
AA seq 175 aa
MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLD
ITTLTGVPEEHIKTRKVRIFVPARNNMQSGVNNTKKWKMEFDTRERWENPLMGWASTADP
LSNMVLTFSTKEDAVSFAEKNGWSYDIEERKVPKPKSKSYGANFSWNKRTRVSTK
NT seq 528 nt   +upstreamnt  +downstreamnt
atggcggcggtgtcaatgtcagtggtactgaggcagacgttgtggcggagaagggcagtg
gctgtagctgccctttccgtttccagggttccgaccaggtcgttgaggacttccacatgg
agattggcacaggaccagactcaagacacacaactcataacagttgatgaaaaattggat
atcactactttaactggagttccagaagagcatataaaaactagaaaagtcaggatcttt
gttcctgctcgcaataacatgcagtctggagtaaacaacacaaagaaatggaagatggag
tttgataccagagagcgatgggaaaatcctttgatgggttgggcatcaacggctgatccc
ttatccaacatggttctaaccttcagtactaaagaagatgcagtttcctttgcagaaaaa
aatggatggagctatgacattgaagagaggaaggttccaaaacccaagtccaagtcttat
ggtgcaaacttttcttggaacaaaagaacaagagtatccacaaaatag

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