KEGG   Homo sapiens (human): 4697
Entry
4697              CDS       T01001                                 
Symbol
NDUFA4, CI-9k, CI-MLRQ, COXFA4, MC4DN21, MISTR1, MLRQ, MRCAF1
Name
(RefSeq) NDUFA4 mitochondrial complex associated
  KO
K03948  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex subunit 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_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
H01368  Cytochrome c oxidase (COX) deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    4697 (NDUFA4)
 09150 Organismal Systems
  09156 Nervous system
   04723 Retrograde endocannabinoid signaling
    4697 (NDUFA4)
  09159 Environmental adaptation
   04714 Thermogenesis
    4697 (NDUFA4)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    4697 (NDUFA4)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    4697 (NDUFA4)
   05012 Parkinson disease
    4697 (NDUFA4)
   05014 Amyotrophic lateral sclerosis
    4697 (NDUFA4)
   05016 Huntington disease
    4697 (NDUFA4)
   05020 Prion disease
    4697 (NDUFA4)
   05022 Pathways of neurodegeneration - multiple diseases
    4697 (NDUFA4)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    4697 (NDUFA4)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    4697 (NDUFA4)
SSDB
Motif
Pfam: B12D
Other DBs
NCBI-GeneID: 4697
NCBI-ProteinID: NP_002480
OMIM: 603833
HGNC: 7687
Ensembl: ENSG00000189043
UniProt: O00483
Structure
LinkDB
Position
7:complement(10931943..10940153)
AA seq 81 aa
MLRQIIGQAKKHPSLIPLFVFIGTGATGATLYLLRLALFNPDVCWDRNNPEPWNKLGPND
QYKFYSVNVDYSKLKKERPDF
NT seq 246 nt   +upstreamnt  +downstreamnt
atgctccgccagatcatcggtcaggccaagaagcatccgagcttgatccccctctttgta
tttattggaactggagctactggagcaacactgtatctcttgcgtctggcattgttcaat
ccagatgtttgttgggacagaaataacccagagccctggaacaaactgggtcccaatgat
caatacaagttctactcagtgaatgtggattacagcaagctgaagaaggaacgtccagat
ttctaa

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