KEGG   Homo sapiens (human): 55967
Entry
55967             CDS       T01001                                 

Gene name
NDUFA12, B17.2, DAP13, MC1DN23
Definition
(RefSeq) NADH:ubiquinone oxidoreductase subunit A12
  KO
K11352  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 12
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
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00146  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex
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
    55967 (NDUFA12)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    55967 (NDUFA12)
  09159 Environmental adaptation
   04714 Thermogenesis
    55967 (NDUFA12)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    55967 (NDUFA12)
   05012 Parkinson disease
    55967 (NDUFA12)
   05014 Amyotrophic lateral sclerosis
    55967 (NDUFA12)
   05016 Huntington disease
    55967 (NDUFA12)
   05020 Prion disease
    55967 (NDUFA12)
   05022 Pathways of neurodegeneration - multiple diseases
    55967 (NDUFA12)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    55967 (NDUFA12)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    55967 (NDUFA12)
SSDB
Motif
Pfam: NDUFA12
Other DBs
NCBI-GeneID: 55967
NCBI-ProteinID: NP_061326
OMIM: 614530
HGNC: 23987
Ensembl: ENSG00000184752
Vega: OTTHUMG00000170098
Pharos: Q9UI09(Tclin)
UniProt: Q9UI09
Structure
PDB: 
5XTB 5XTD

Position
12q22
AA seq 145 aa
MELVQVLKRGLQQITGHGGLRGYLRVFFRTNDAKVGTLVGEDKYGNKYYEDNKQFFGRHR
WVVYTTEMNGKNTFWDVDGSMVPPEWHRWLHSMTDDPPTTKPLTARKFIWTNHKFNVTGT
PEQYVPYSTTRKKIQEWIPPSTPYK
NT seq 438 nt   +upstreamnt  +downstreamnt
atggagttagtgcaggtcctgaaacgcgggctgcagcagatcaccggccacggcggtctc
cgaggctatctacgggtttttttcaggacaaatgatgcgaaggttggtacattagtgggg
gaagacaaatatggaaacaaatactatgaagacaacaagcaattttttggccgtcaccga
tgggttgtatatactactgaaatgaatggcaaaaacacattctgggatgtggatggaagc
atggtgcctcctgaatggcatcgttggcttcacagtatgactgatgatcctccaacaaca
aaaccacttactgctcgtaaattcatttggacgaaccataaattcaacgtgactggcacc
ccagaacaatatgtaccttattctaccactagaaagaagattcaggagtggatcccacct
tcaacaccttacaagtaa

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