KEGG   Homo sapiens (human): 4722
Entry
4722              CDS       T01001                                 

Gene name
NDUFS3, CI-30, MC1DN8
Definition
(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
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
  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)
  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
Vega: OTTHUMG00000166893
Pharos: O75489(Tclin)
UniProt: O75489
Structure
PDB: 
5XTB 5XTD

Position
11p11.2
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

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