NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1)

Gene

• Entrez ID: 4719
• Gene name: NADH:ubiquinone oxidoreductase core subunit S1
• Gene symbol: NDUFS1
• Synonyms (NCBI Gene): CI-75Kd, CI-75k, MC1DN5, PRO1304
• Chromosome: 2
• Chromosome location: 2q33.3
• Summary: 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 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
rs199422226	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs201034481	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs370009373	T>G	Pathogenic	Splice acceptor variant
rs370411488	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs372691318	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs387907199	T>C	Pathogenic	Coding sequence variant, missense variant
rs397515383	GAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs397515447	C>T	Pathogenic	Coding sequence variant, missense variant
rs747249702	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs750971390	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs767122069	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs776114731	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205666	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs863224097	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs863224099	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs863224100	GTT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs863224103	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1131692032	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1321888585	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1485032272	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1553503175	->CG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553503177	GCTTATAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553506655	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559047521	TTTAA>-	Likely-pathogenic	Intron variant
rs1575944638	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

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
MIRT545644	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT545643	hsa-miR-603	HITS-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT545640	hsa-miR-3941	HITS-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616117	hsa-miR-548ao-5p	HITS-CLIP	23824327
MIRT616116	hsa-miR-548ax	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT552225	hsa-miR-4428	PAR-CLIP	21572407
MIRT552224	hsa-miR-3653-5p	PAR-CLIP	21572407
MIRT552223	hsa-miR-1976	PAR-CLIP	21572407
MIRT236271	hsa-miR-3682-5p	PAR-CLIP	21572407
MIRT552222	hsa-miR-4279	PAR-CLIP	21572407
MIRT545646	hsa-miR-8485	PAR-CLIP	21572407
MIRT545645	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545644	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545643	hsa-miR-603	PAR-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545640	hsa-miR-3941	PAR-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545646	hsa-miR-8485	PAR-CLIP	21572407
MIRT545645	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545644	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545643	hsa-miR-603	PAR-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545640	hsa-miR-3941	PAR-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT462199	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT462198	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT462197	hsa-miR-4330	PAR-CLIP	23592263
MIRT462196	hsa-miR-4670-3p	PAR-CLIP	23592263
MIRT462195	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT462194	hsa-miR-5093	PAR-CLIP	23592263
MIRT462193	hsa-miR-3915	PAR-CLIP	23592263
MIRT440126	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440126	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT733103	hsa-miR-3130-5p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33978320
MIRT733103	hsa-miR-3130-5p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33978320
MIRT733103	hsa-miR-3130-5p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33978320
MIRT545646	hsa-miR-8485	HITS-CLIP	21572407
MIRT545645	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT545644	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT545643	hsa-miR-603	HITS-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT545640	hsa-miR-3941	HITS-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT616120	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT616119	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT616118	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT616117	hsa-miR-548ao-5p	HITS-CLIP	23824327
MIRT616116	hsa-miR-548ax	HITS-CLIP	23824327
MIRT616115	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT545646	hsa-miR-8485	HITS-CLIP	23824327
MIRT545645	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT545644	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT545643	hsa-miR-603	HITS-CLIP	23824327
MIRT545641	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT545640	hsa-miR-3941	HITS-CLIP	23824327
MIRT545639	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612202	hsa-miR-5701	HITS-CLIP	23824327
MIRT612201	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT612200	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT612199	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT612198	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT552225	hsa-miR-4428	PAR-CLIP	21572407
MIRT552224	hsa-miR-3653-5p	PAR-CLIP	21572407
MIRT552223	hsa-miR-1976	PAR-CLIP	21572407
MIRT236271	hsa-miR-3682-5p	PAR-CLIP	21572407
MIRT552222	hsa-miR-4279	PAR-CLIP	21572407
MIRT545646	hsa-miR-8485	PAR-CLIP	21572407
MIRT545645	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545644	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545643	hsa-miR-603	PAR-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545640	hsa-miR-3941	PAR-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT545646	hsa-miR-8485	PAR-CLIP	21572407
MIRT545645	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT545644	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT545643	hsa-miR-603	PAR-CLIP	21572407
MIRT545642	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT545641	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT545640	hsa-miR-3941	PAR-CLIP	21572407
MIRT545639	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT462199	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT462198	hsa-miR-3688-3p	PAR-CLIP	23592263
MIRT462197	hsa-miR-4330	PAR-CLIP	23592263
MIRT462196	hsa-miR-4670-3p	PAR-CLIP	23592263
MIRT462195	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT462194	hsa-miR-5093	PAR-CLIP	23592263
MIRT462193	hsa-miR-3915	PAR-CLIP	23592263
MIRT1179154	hsa-miR-1305	CLIP-seq
MIRT1179155	hsa-miR-329	CLIP-seq
MIRT1179156	hsa-miR-4307	CLIP-seq
MIRT1179157	hsa-miR-466	CLIP-seq
MIRT1179158	hsa-miR-4666-5p	CLIP-seq
MIRT1179159	hsa-miR-4672	CLIP-seq
MIRT1179160	hsa-miR-607	CLIP-seq
MIRT1179161	hsa-miR-139-3p	CLIP-seq
MIRT1179162	hsa-miR-147	CLIP-seq
MIRT1179163	hsa-miR-219-1-3p	CLIP-seq
MIRT1179164	hsa-miR-3164	CLIP-seq
MIRT1179165	hsa-miR-3653	CLIP-seq
MIRT1179166	hsa-miR-3658	CLIP-seq
MIRT1179167	hsa-miR-3911	CLIP-seq
MIRT1179168	hsa-miR-4438	CLIP-seq
MIRT1179169	hsa-miR-4511	CLIP-seq
MIRT1179170	hsa-miR-4517	CLIP-seq
MIRT1179171	hsa-miR-4528	CLIP-seq
MIRT1179172	hsa-miR-4684-3p	CLIP-seq
MIRT1179173	hsa-miR-4781-3p	CLIP-seq
MIRT1179174	hsa-miR-548b-3p	CLIP-seq
MIRT1179175	hsa-miR-571	CLIP-seq
MIRT1179176	hsa-miR-644	CLIP-seq
MIRT1179154	hsa-miR-1305	CLIP-seq
MIRT1179177	hsa-miR-153	CLIP-seq
MIRT1179178	hsa-miR-18a	CLIP-seq
MIRT1179179	hsa-miR-18b	CLIP-seq
MIRT1179180	hsa-miR-2052	CLIP-seq
MIRT1179181	hsa-miR-320a	CLIP-seq
MIRT1179182	hsa-miR-320b	CLIP-seq
MIRT1179183	hsa-miR-320c	CLIP-seq
MIRT1179184	hsa-miR-320d	CLIP-seq
MIRT1179185	hsa-miR-320e	CLIP-seq
MIRT1179186	hsa-miR-323b-5p	CLIP-seq
MIRT1179155	hsa-miR-329	CLIP-seq
MIRT1179187	hsa-miR-3607-3p	CLIP-seq
MIRT1179165	hsa-miR-3653	CLIP-seq
MIRT1179166	hsa-miR-3658	CLIP-seq
MIRT1179156	hsa-miR-4307	CLIP-seq
MIRT1179188	hsa-miR-4429	CLIP-seq
MIRT1179168	hsa-miR-4438	CLIP-seq
MIRT1179169	hsa-miR-4511	CLIP-seq
MIRT1179189	hsa-miR-451b	CLIP-seq
MIRT1179171	hsa-miR-4528	CLIP-seq
MIRT1179157	hsa-miR-466	CLIP-seq
MIRT1179158	hsa-miR-4666-5p	CLIP-seq
MIRT1179159	hsa-miR-4672	CLIP-seq
MIRT1179172	hsa-miR-4684-3p	CLIP-seq
MIRT1179190	hsa-miR-4720-3p	CLIP-seq
MIRT1179191	hsa-miR-4735-3p	CLIP-seq
MIRT1179192	hsa-miR-4761-5p	CLIP-seq
MIRT1179193	hsa-miR-4793-3p	CLIP-seq
MIRT1179194	hsa-miR-4804-3p	CLIP-seq
MIRT1179195	hsa-miR-518a-5p	CLIP-seq
MIRT1179196	hsa-miR-520d-5p	CLIP-seq
MIRT1179197	hsa-miR-524-5p	CLIP-seq
MIRT1179198	hsa-miR-527	CLIP-seq
MIRT1179174	hsa-miR-548b-3p	CLIP-seq
MIRT1179160	hsa-miR-607	CLIP-seq
MIRT1179199	hsa-miR-649	CLIP-seq
MIRT1179154	hsa-miR-1305	CLIP-seq
MIRT2280927	hsa-miR-1321	CLIP-seq
MIRT2280928	hsa-miR-1323	CLIP-seq
MIRT2280929	hsa-miR-139-5p	CLIP-seq
MIRT2280930	hsa-miR-3189-3p	CLIP-seq
MIRT2280931	hsa-miR-3672	CLIP-seq
MIRT2280932	hsa-miR-369-3p	CLIP-seq
MIRT2280933	hsa-miR-374a	CLIP-seq
MIRT2280934	hsa-miR-374b	CLIP-seq
MIRT2280935	hsa-miR-4495	CLIP-seq
MIRT1179158	hsa-miR-4666-5p	CLIP-seq
MIRT2280936	hsa-miR-4686	CLIP-seq
MIRT2280937	hsa-miR-4734	CLIP-seq
MIRT2280938	hsa-miR-4739	CLIP-seq
MIRT2280939	hsa-miR-4756-5p	CLIP-seq
MIRT2280940	hsa-miR-4786-5p	CLIP-seq
MIRT1179193	hsa-miR-4793-3p	CLIP-seq
MIRT2280941	hsa-miR-520f	CLIP-seq
MIRT2280942	hsa-miR-526b	CLIP-seq
MIRT2280943	hsa-miR-548a-3p	CLIP-seq
MIRT2280944	hsa-miR-548aa	CLIP-seq
MIRT2280945	hsa-miR-548e	CLIP-seq
MIRT2280946	hsa-miR-548f	CLIP-seq
MIRT2280947	hsa-miR-548o	CLIP-seq
MIRT2280948	hsa-miR-568	CLIP-seq
MIRT2280949	hsa-miR-582-5p	CLIP-seq
MIRT1179160	hsa-miR-607	CLIP-seq
MIRT2280950	hsa-miR-635	CLIP-seq
MIRT1179176	hsa-miR-644	CLIP-seq
MIRT2280951	hsa-miR-663b	CLIP-seq
MIRT2280952	hsa-miR-759	CLIP-seq
MIRT2280953	hsa-miR-769-5p	CLIP-seq
MIRT2280954	hsa-miR-885-5p	CLIP-seq
MIRT2280955	hsa-miR-889	CLIP-seq
MIRT2280956	hsa-miR-944	CLIP-seq
MIRT1179154	hsa-miR-1305	CLIP-seq
MIRT1179156	hsa-miR-4307	CLIP-seq
MIRT1179158	hsa-miR-4666-5p	CLIP-seq
MIRT1179195	hsa-miR-518a-5p	CLIP-seq
MIRT1179198	hsa-miR-527	CLIP-seq
MIRT1179160	hsa-miR-607	CLIP-seq
MIRT1179161	hsa-miR-139-3p	CLIP-seq
MIRT1179165	hsa-miR-3653	CLIP-seq
MIRT1179166	hsa-miR-3658	CLIP-seq
MIRT2579352	hsa-miR-4477b	CLIP-seq
MIRT1179169	hsa-miR-4511	CLIP-seq
MIRT1179170	hsa-miR-4517	CLIP-seq
MIRT1179172	hsa-miR-4684-3p	CLIP-seq
MIRT2579353	hsa-miR-4699-5p	CLIP-seq
MIRT2579354	hsa-miR-4753-3p	CLIP-seq
MIRT1179173	hsa-miR-4781-3p	CLIP-seq
MIRT1179174	hsa-miR-548b-3p	CLIP-seq
MIRT2280956	hsa-miR-944	CLIP-seq
MIRT1179161	hsa-miR-139-3p	CLIP-seq
MIRT2686133	hsa-miR-3198	CLIP-seq
MIRT1179165	hsa-miR-3653	CLIP-seq
MIRT1179166	hsa-miR-3658	CLIP-seq
MIRT2686134	hsa-miR-4309	CLIP-seq
MIRT1179168	hsa-miR-4438	CLIP-seq
MIRT1179169	hsa-miR-4511	CLIP-seq
MIRT1179170	hsa-miR-4517	CLIP-seq
MIRT1179172	hsa-miR-4684-3p	CLIP-seq
MIRT1179173	hsa-miR-4781-3p	CLIP-seq
MIRT1179174	hsa-miR-548b-3p	CLIP-seq

Gene ontology (GO)

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
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	15186778
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IMP	31557978
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IBA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	15824269, 16478720, 16870178
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	30879903, 31557978
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0009055	Function	Electron transfer activity	IEA
GO:0009055	Function	Electron transfer activity	NAS	1935949
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016651	Function	Oxidoreductase activity, acting on NAD(P)H	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	16478720, 30879903, 31557978
GO:0042773	Process	ATP synthesis coupled electron transport	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IDA	12611891
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	IMP	16478720
GO:0045271	Component	Respiratory chain complex I	NAS	9878551
GO:0045333	Process	Cellular respiration	IMP	15186778
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 157655
• HGNC: 7707
• e!Ensembl: 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:

  MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQI
  PRFCYHERLSVAGNCRMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFL
  LANHPLDCPICDQGGECDLQDQSMMFGNDRSRFLEGKRAVEDKNIGPLVKTIMTRCIQCT
  RCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSELSGNIIDICPVGALTSKPYAFTA
  RPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHEDINEEWISDKTRFAYDGLKRQ
  RLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEALVALKDLLNR
  VDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRK
  SWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIASGSHPFSQVLKEAKKPMVVLGSSA
  LQRNDGAAILAAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAALDLGYKPGVEAIRKN
  PPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTE
  GRAQQTKVAVTPPGLAREDWKIIRALSEIAGMTLPYDTLDQVRNRLEEVSPNLVRYDDIE
  GANYFQQANELSKLVNQQLLADPLVPPQLTIKDFYMTDSISRASQTMAKCVKAVTEGAQA
  VEEPSIC

• Sequence length: 727

Pathways

KEGG:

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

Reactome:

Respiratory electron transport
Complex I biogenesis

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Leigh syndrome	Likely pathogenic	rs2470066855, rs1559047521, rs747249702	RCV006259577 RCV000986981 RCV000986985
MELAS syndrome	Likely pathogenic	rs786205666	RCV000170569
Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs1485032272, rs750971390	RCV000768439 RCV000768438
Mitochondrial complex I deficiency, nuclear type 5	Likely pathogenic; Pathogenic	rs2105945363, rs571051013, rs1484648743, rs370009373, rs757522804, rs397515383, rs199422224, rs2470066855, rs1179324500, rs750285313, rs387907199, rs370411488, rs151279101, rs750971390, rs397515447, rs372691318, rs1321888585	RCV001782505 RCV002468752 RCV005254123 RCV003992230 RCV003493238 RCV000015298 RCV000015299 RCV004594752 RCV004595010 RCV004595011 RCV000024604 RCV000779296 RCV001249843 RCV002493399 RCV000043634 RCV000043635 RCV000985117
Mitochondrial disease	Likely pathogenic	rs863224101	RCV004720220
NDUFS1-related disorder	Likely pathogenic; Pathogenic	rs2470067092, rs2470000841	RCV003404172 RCV003402201
See cases	Likely pathogenic; Pathogenic	rs370009373	RCV002252051

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs2230892	RCV005886699
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs13414581, rs2230892	RCV005914776 RCV005886702
Cholangiocarcinoma	Benign	rs12465764	RCV005921883
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs2230892	RCV005886703
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs2230892, rs142716964	RCV005886698 RCV005896062
Colorectal cancer	Conflicting classifications of pathogenicity	rs2230892	RCV005886705
Gastric cancer	Conflicting classifications of pathogenicity; Benign	rs2230892, rs760292289	RCV005886707 RCV005871333
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs2230892	RCV005886700
Lung cancer	Conflicting classifications of pathogenicity	rs2230892	RCV005886713
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	rs2230892	RCV005886704
Malignant tumor of esophagus	Benign	rs12465764	RCV005921879
Melanoma	Conflicting classifications of pathogenicity; Uncertain significance	rs2230892, rs147185691	RCV005886712 RCV005925451
Mitochondrial complex I deficiency	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs78042826, rs140126185, rs58253838, rs200446477, rs568965659, rs760292289, rs34184317, rs75666426, rs765677840, rs1127567	RCV000605317 RCV005863039 RCV000367850 RCV000321842 RCV000272442 RCV000364348 RCV000313581 RCV000307662 RCV000360707 RCV000477869 RCV000680046 RCV000680045
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs2230892	RCV005886701
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	rs12465764, rs2230892	RCV005921881 RCV005886708
Sarcoma	Benign; Conflicting classifications of pathogenicity	rs12465764, rs2230892	RCV005921880 RCV005886706
Thymoma	Benign; Conflicting classifications of pathogenicity	rs12465764, rs2230892	RCV005921882 RCV005886710
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs2230892	RCV005886711
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs2230892	RCV005886709
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	rs13414581, rs12465764, rs2230892, rs760292289	RCV005914777 RCV005921884 RCV005886714 RCV005871334

Associations from Text Mining
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
Mitochondrial Diseases	Associate	30764484, 31863644, 36042640
Neoplasms	Associate	27516145, 32942548, 39684297
Neuroblastoma	Associate	36675163
Ovarian Diseases	Associate	25298284
Schizophrenia	Associate	26053550
Testicular Neoplasms	Associate	30764484
Weight Gain	Associate	24196945