NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
374291
Gene name Gene Name - the full gene name approved by the HGNC.
NADH:ubiquinone oxidoreductase core subunit S7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDUFS7
Synonyms (NCBI Gene) Gene synonyms aliases
CI-20, CI-20KD, MC1DN3, MY017, PSST
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This
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
rs11551664 C>T Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs104894705 G>A Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs121434479 G>A Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs863224113 T>C Pathogenic Missense variant, genic upstream transcript variant, initiator codon variant
rs1568985256 C>G Pathogenic Intron variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT028986 hsa-miR-26b-5p Microarray 19088304
MIRT038633 hsa-miR-125b-2-3p CLASH 23622248
MIRT037906 hsa-miR-455-3p CLASH 23622248
MIRT2051786 hsa-miR-3960 CLIP-seq
MIRT2051787 hsa-miR-4467 CLIP-seq
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(35)
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IEA
GO:0003954 Function NADH dehydrogenase activity IMP 14749350
GO:0004497 Function Monooxygenase activity IDA 27226634
GO:0005515 Function Protein binding IPI 15186778, 27226634, 32814053
GO:0005739 Component Mitochondrion HTP 34800366
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
601825 7714 ENSG00000115286
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75251
Protein name NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial (EC 7.1.1.2) (Complex I-20kD) (CI-20kD) (NADH-ubiquinone oxidoreductase 20 kDa subunit) (PSST 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:17275378). Essential for the
PDB 5XTB , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01058 Oxidored_q6 87 → 197 NADH ubiquinone oxidoreductase, 20 Kd subunit Family
Sequence 
MAVLSAPGLRGFRILGLRSSVGPAVQARGVHQSVATDGPSSTQPALPKARAVAPKPSSRG
EYVVAKLDDLVNWARRSSLWPMTFGLACCAVEMMHMAAPRYDMDRFGVVFRASPRQSDVM
IVAGTLTNKMAPALRKVYDQMPEPRYVVSMGSCANGGGYYHYSYSVVRGCDRIVPVDIYI
PGCPPTAEALLYGILQLQRKIKRERRLQIWYRR
Sequence length 213
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 (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
leigh syndrome Leigh syndrome rs104894705, rs1568985256 N/A
Mitochondrial Complex Deficiency Mitochondrial complex 1 deficiency, nuclear type 3 rs104894705, rs121434479, rs1568985256, rs1171276645 N/A
Show/Hide Unknown Diseases (1)
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
Leigh Syndrome With Leukodystrophy Leigh syndrome with leukodystrophy N/A N/A GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathies Associate 15576045
Gamma A Globulin Defect in Assembly of Associate 39894241
Leigh Disease Associate 11004438, 35718301, 39894241
Mitochondrial complex I deficiency Associate 15576045, 18435906, 35718301, 39894241