NDUFS3 (NADH:ubiquinone oxidoreductase core subunit S3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4722
Gene name Gene Name - the full gene name approved by the HGNC.
NADH:ubiquinone oxidoreductase core subunit S3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDUFS3
Synonyms (NCBI Gene) Gene synonyms aliases
CI-30, MC1DN8
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq,
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs28939714 C>G,T Likely-pathogenic Coding sequence variant, missense variant
rs104894270 C>T Likely-pathogenic Missense variant, coding sequence variant
rs146407178 C>T Likely-pathogenic Coding sequence variant, missense variant
rs771783839 G>A,T Likely-pathogenic Coding sequence variant, missense variant
rs863224107 GA>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
miRTarBase ID miRNA Experiments Reference
MIRT696029 hsa-miR-562 HITS-CLIP 23313552
MIRT696028 hsa-miR-3184-3p HITS-CLIP 23313552
MIRT696027 hsa-miR-1264 HITS-CLIP 23313552
MIRT696026 hsa-miR-602 HITS-CLIP 23313552
MIRT696025 hsa-miR-577 HITS-CLIP 23313552
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(34)
GO ID Ontology Definition Evidence Reference
GO:0003954 Function NADH dehydrogenase activity IMP 11112787, 16826196
GO:0005515 Function Protein binding IPI 15250827, 19463981, 19688755, 19822128, 21310150, 24344204, 27499296, 28514442, 31536960, 32296183, 32814053, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
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
603846 7710 ENSG00000213619
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75489
Protein name NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial (EC 7.1.1.2) (Complex I-30kD) (CI-30kD) (NADH-ubiquinone oxidoreductase 30 kDa subunit)
Protein function Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:14729820, PubMed:30140060). E
PDB 5XTB , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00329 Complex1_30kDa 86 → 208 Respiratory-chain NADH dehydrogenase, 30 Kd subunit Family
Sequence 
MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTRPTVRPRNDVAHKQLSA
FGEYVAEILPKYVQQVQVSCFNELEVCIHPDGVIPVLTFLRDHTNAQFKSLVDLTAVDVP
TRQNRFEIVYNLLSLRFNSRIRVKTYTDELTPIESAVSVFKAANWYEREIWDMFGVFFAN
HPDLRRILTDYGFEGHPFRKDFPLSGYVELRYDDEVKRVVAEPVELAQEFRKFDLNSPWE
AFPVYRQPPESLKLEAGDKKPDAK
Sequence length 264
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 8 rs28939714, rs104894270 N/A
Show/Hide Unknown Diseases (5)
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
Hypertension Hypertension N/A N/A GWAS
Insomnia Insomnia 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 (24)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 26125932, 35640139, 35788655
Amyloidosis Associate 35066432
Atherosclerosis Inhibit 37642954
Atherosclerosis Associate 37986300
Breast Neoplasms Associate 21867691, 23630608
Carcinoma Ductal Associate 21867691
Cerebral Arterial Diseases Associate 37986300
Cognition Disorders Associate 37642954
Hyperplasia Associate 37642954
Hypoxia Associate 21867691