NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4705
Gene name Gene Name - the full gene name approved by the HGNC.
NADH:ubiquinone oxidoreductase subunit A10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDUFA10
Synonyms (NCBI Gene) Gene synonyms aliases
CI-42KD, CI-42k, MC1DN22
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to th
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs199648872 G>C,T Likely-pathogenic, uncertain-significance Intron variant, genic downstream transcript variant
rs387906872 T>C Pathogenic Initiator codon variant, missense variant, non coding transcript variant
rs387906873 T>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1057519414 A>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1057519415 ->TTA Pathogenic Coding sequence variant, inframe insertion, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(832)
miRTarBase ID miRNA Experiments Reference
MIRT051977 hsa-let-7b-5p CLASH 23622248
MIRT039891 hsa-miR-615-3p CLASH 23622248
MIRT612132 hsa-miR-634 HITS-CLIP 23824327
MIRT612131 hsa-miR-1226-3p HITS-CLIP 23824327
MIRT612130 hsa-miR-6501-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 28844695
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603835 7684 ENSG00000130414
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O95299
Protein name NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial (Complex I-42kD) (CI-42kD) (NADH-ubiquinone oxidoreductase 42 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. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat
PDB 5XTC , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01712 dNK 60 → 288 Deoxynucleoside kinase Domain
Sequence
Sequence length 355
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Complex Deficiency Mitochondrial complex 1 deficiency, nuclear type 22 rs387906872, rs387906873, rs1057519414, rs1057519415 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Breast Cancer Breast cancer specific mortality in breast cancer N/A N/A GWAS
leigh syndrome Leigh syndrome N/A N/A ClinVar
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abruptio Placentae Associate 30194050
Alzheimer Disease Associate 26125932, 37373264
COVID 19 Associate 33173052
Dementia Associate 37373264
Diabetes Mellitus Type 2 Associate 21775499
Leigh Disease Associate 21150889, 36675121
Mitochondrial complex I deficiency Associate 21150889, 37373264
Neoplasms Inhibit 34124242
Prostatic Neoplasms Associate 34124242
Schizophrenia Associate 28117656