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
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
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
UniProt: O43181 A0A0S2Z433
Structure
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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