Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:CI-75kD
Complex I-75kD NADH dehydrogenase [ubiquinone] iron-sulfur protein 1 |
| gptkbp:associatedWith |
gptkb:mitochondrial_complex_I
|
| gptkbp:discoveredIn |
1991
|
| gptkbp:encodes |
NADH:ubiquinone oxidoreductase core subunit S1
|
| gptkbp:Entrez_Gene_ID |
4719
ENSG00000122824 |
| gptkbp:expressedIn |
mitochondria
|
| gptkbp:function |
oxidative phosphorylation
electron transport chain |
| gptkbp:HGNC_ID |
HGNC:7700
|
| https://www.w3.org/2000/01/rdf-schema#label |
NDUFS1 gene
|
| gptkbp:length |
25 exons
|
| gptkbp:locatedOnChromosome |
chromosome 2
2q33.3 |
| gptkbp:mutationAssociatedWith |
gptkb:Leigh_syndrome
mitochondrial complex I deficiency neurodegenerative disorders |
| gptkbp:OMIM |
157655
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Ndufs1
|
| gptkbp:orthologInYeast |
Ndi1
|
| gptkbp:product |
gptkb:NADH-ubiquinone_oxidoreductase_75_kDa_subunit
|
| gptkbp:UniProtID |
gptkb:P28331
|
| gptkbp:bfsParent |
gptkb:NDUFS1
|
| gptkbp:bfsLayer |
7
|