Gene Gene information from NCBI Gene database.
Entrez ID 4702
Gene name NADH:ubiquinone oxidoreductase subunit A8
Gene symbol NDUFA8
Synonyms (NCBI Gene)
CI-19KDCI-PGIVMC1DN37PGIV
Chromosome 9
Chromosome location 9q33.2
Summary The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering
miRNA miRNA information provided by mirtarbase database.
64
miRTarBase ID miRNA Experiments Reference
MIRT1178876 hsa-miR-224 CLIP-seq
MIRT1178877 hsa-miR-3691-3p CLIP-seq
MIRT1178878 hsa-miR-4265 CLIP-seq
MIRT1178879 hsa-miR-4296 CLIP-seq
MIRT1178880 hsa-miR-4322 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21310150, 27499296, 32814053
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 23676665
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 28844695
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603359 7692 ENSG00000119421
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51970
Protein name NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 (Complex I-19kD) (CI-19kD) (Complex I-PGIV) (CI-PGIV) (NADH-ubiquinone oxidoreductase 19 kDa subunit)
Protein function Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371, PubMed:32385911, PubMed:33153867). Complex I functions in the transfer of electr
PDB 5XTC , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06747 CHCH 78 113 CHCH domain Domain
Sequence
MPGIVELPTLEELKVDEVKISSAVLKAAAHHYGAQCDKPNKEFMLCRWEEKDPRRCLEEG
KLVNKCALDFFRQIKRHCAEPFTEYWTCIDYTGQQLFRHCRKQQAKFDECVLDKLGWVRP
DLGELSKVTKVKTDRPLPENPYHSRPRPDPSPEIEGDLQPATHGSRFYFWTK
Sequence length 172
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Respiratory electron transport
Complex I biogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex I deficiency, nuclear type 37 Pathogenic; Likely pathogenic rs767864225, rs1319414797, rs760549929 RCV001374462
RCV001374463
RCV002226921
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 36077333
Mitochondrial complex I deficiency Associate 15576045
Mitochondrial Encephalomyopathies Associate 15576045