KEGG   Homo sapiens (human): 4704
Entry
4704              CDS       T01001                                 
Symbol
NDUFA9, CC6, CI-39k, CI39k, COQ11, MC1DN26, NDUFS2L, SDR22E1
Name
(RefSeq) NADH:ubiquinone oxidoreductase subunit A9
  KO
K03953  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 9
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_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
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
    4704 (NDUFA9)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4704 (NDUFA9)
  09159 Environmental adaptation
   04714 Thermogenesis
    4704 (NDUFA9)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4704 (NDUFA9)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4704 (NDUFA9)
   05012 Parkinson disease
    4704 (NDUFA9)
   05014 Amyotrophic lateral sclerosis
    4704 (NDUFA9)
   05016 Huntington disease
    4704 (NDUFA9)
   05020 Prion disease
    4704 (NDUFA9)
   05022 Pathways of neurodegeneration - multiple diseases
    4704 (NDUFA9)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4704 (NDUFA9)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4704 (NDUFA9)
SSDB
Motif
Pfam: Epimerase 3Beta_HSD NmrA NAD_binding_10 RmlD_sub_bind NAD_binding_4 GDP_Man_Dehyd adh_short
Other DBs
NCBI-GeneID: 4704
NCBI-ProteinID: NP_004993
OMIM: 603834
HGNC: 7693
Ensembl: ENSG00000139180
UniProt: Q16795
Structure
Position
12:4649114..4694317
AA seq 377 aa
MAAAAQSRVVRVLSMSRSAITAIATSVCHGPPCRQLHHALMPHGKGGRSSVSGIVATVFG
ATGFLGRYVVNHLGRMGSQVIIPYRCDKYDIMHLRPMGDLGQLLFLEWDARDKDSIRRVV
QHSNVVINLIGRDWETKNFDFEDVFVKIPQAIAQLSKEAGVEKFIHVSHLNANIKSSSRY
LRNKAVGEKVVRDAFPEAIIVKPSDIFGREDRFLNSFASMHRFGPIPLGSLGWKTVKQPV
YVVDVSKGIVNAVKDPDANGKSFAFVGPSRYLLFHLVKYIFAVAHRLFLPFPLPLFAYRW
VARVFEISPFEPWITRDKVERMHITDMKLPHLPGLEDLGIQATPLELKAIEVLRRHRTYR
WLSAEIEDVKPAKTVNI
NT seq 1134 nt   +upstreamnt  +downstreamnt
atggcggctgccgcacaatcccgggttgtccgggtcctgtcaatgtcacgttctgccatt
actgcaatagccacatctgtgtgtcacggcccaccctgtcgccagcttcatcatgccctc
atgcctcatgggaaaggtggacgttcctcagtcagtgggattgtggccactgtgtttgga
gcaacaggattcctggggcgatatgttgtcaaccaccttggacgcatggggtcacaggta
atcataccctatcggtgtgataaatatgacatcatgcaccttcgtcccatgggtgacctg
ggccagcttctgtttctggaatgggacgcgagagataaagattctatccgacgagtagta
caacacagcaatgtggtcatcaatcttattggacgagactgggaaaccaaaaactttgat
tttgaggatgtttttgtgaagattccccaagcaattgctcaactgtccaaggaagctgga
gttgaaaaattcattcatgtttcacatctgaatgcgaatattaaaagctcttctagatat
ttgagaaataaggctgttggagagaaagtagtgagagatgcatttccggaagccattatc
gtaaagccgtcggacatctttggaagagaggatagattccttaattcttttgcaagtatg
catcggtttggtcctataccccttggttccttgggctggaagacagttaaacaaccagta
tatgtcgtagatgtatccaaaggaattgttaatgcagttaaggatcctgatgccaatggg
aaatcctttgctttcgttggtcccagtcggtacctccttttccacctggtgaagtacatc
tttgctgtggctcacagattgttcctcccattccccttgccgctttttgcctatcgatgg
gtagcaagagtctttgaaataagcccatttgagccctggataacaagggataaagtggag
cggatgcacatcacagacatgaaattgcctcacctgcctggcttagaagaccttggtatt
caggcaacaccactggaactcaaggccattgaggtgctgcggcgtcatcgcacttaccgc
tggctgtctgctgaaattgaggatgtgaagccggccaagaccgtcaacatttag

  All links  
Disease (2)   
   OMIM (2)   
Gene (27)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (17)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (21)   
   RefSeq(nuc) (1)   
   GenBank (10)   
   EMBL (10)   
3D Structure (5)   
   PDB (5)   
Protein domain (8)   
   Pfam (8)   
All databases (66)   

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