Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4719
Gene name Gene Name - the full gene name approved by the HGNC.
NADH:ubiquinone oxidoreductase core subunit S1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDUFS1
Synonyms (NCBI Gene) Gene synonyms aliases
CI-75Kd, CI-75k, MC1DN5, PRO1304
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase acti
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs78042826 G>A,C Conflicting-interpretations-of-pathogenicity, benign, likely-benign Coding sequence variant, missense variant
rs149271416 G>A Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs151279101 C>T Likely-pathogenic Missense variant, coding sequence variant
rs199422224 T>C Pathogenic Coding sequence variant, missense variant
rs199422225 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT046974 hsa-miR-221-3p CLASH 23622248
MIRT043105 hsa-miR-324-5p CLASH 23622248
MIRT040441 hsa-miR-615-3p CLASH 23622248
MIRT545646 hsa-miR-8485 HITS-CLIP 21572407
MIRT545645 hsa-miR-329-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15186778, 30879903, 32807793, 32814053
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 30879903
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.
MIM HGNC e!Ensembl
157655 7707 ENSG00000023228
Protein
UniProt ID P28331
Protein name NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (EC 7.1.1.2) (Complex I-75kD) (CI-75kD)
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:30879903, PubMed:31557978). E
PDB 5XTB , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13510 Fer2_4 29 107 Domain
PF10588 NADH-G_4Fe-4S_3 113 152 NADH-ubiquinone oxidoreductase-G iron-sulfur binding region Domain
PF00384 Molybdopterin 301 629 Molybdopterin oxidoreductase Family
PF09326 NADH_dhqG_C 658 710 NADH-ubiquinone oxidoreductase subunit G, C-terminal Family
Sequence
Sequence length 727
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
leigh syndrome Leigh syndrome rs1559047521, rs747249702 N/A
Mitochondrial Complex Deficiency Mitochondrial complex 1 deficiency, nuclear type 5, Mitochondrial complex I deficiency, nuclear type 1 rs370009373, rs370411488, rs151279101, rs1485032272, rs750971390, rs397515383, rs1321888585, rs199422224, rs387907199, rs397515447, rs372691318 N/A
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
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 38017020
Breast Neoplasms Associate 39684297
Carcinogenesis Associate 36658121, 39684297
Colorectal Neoplasms Associate 36658121
Cyanosis Associate 36042640
Heart Failure Inhibit 31863644
Leigh Disease Associate 36042640, 36403546
Leukoencephalopathies Associate 15576045, 33811136
Lung Neoplasms Associate 27516145
Mitochondrial complex I deficiency Associate 11349233, 18435906, 27516145, 31557978, 36042640