Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	374291
Gene name	NADH:ubiquinone oxidoreductase core subunit S7
Gene symbol	NDUFS7
Synonyms (NCBI Gene)	CI-20CI-20KDMC1DN3MY017PSST
Chromosome	19
Chromosome location	19p13.3
Summary	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

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

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
MIRT2280975	hsa-miR-4438	CLIP-seq

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
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:0005759	Component	Mitochondrial matrix	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IMP	17275378
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	8938450, 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	17275378
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0009060	Process	Aerobic respiration	IBA
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0015990	Process	Electron transport coupled proton transport	IBA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016655	Function	Oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	NAS	8938450
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	11112787
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0043025	Component	Neuronal cell body	IEA
GO:0045271	Component	Respiratory chain complex I	IBA
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	11112787
GO:0046872	Function	Metal ion binding	IEA
GO:0048038	Function	Quinone binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0097060	Component	Synaptic membrane	IEA

MIM	HGNC	e!Ensembl
601825	7714	ENSG00000115286

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

	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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leigh syndrome	Likely pathogenic; Pathogenic	rs104894705, rs1568985256	RCV003155020 RCV002265550
Mitochondrial complex I deficiency, nuclear type 3	Likely pathogenic; Pathogenic	rs1568992973, rs104894705, rs121434479, rs1568985256, rs962096142, rs777504868, rs2512210872, rs1171276645	RCV002470537 RCV000008120 RCV000008121 RCV000008122 RCV003148358 RCV005030276 RCV005030354 RCV000850190

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Mitochondrial complex I deficiency	Conflicting classifications of pathogenicity	rs3065757	RCV000339391 RCV000380225
Mitochondrial complex I deficiency, nuclear type 1	Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs1142530, rs140236960, rs2074896, rs775856806, rs573586959, rs375120743, rs144570086, rs756081375, rs368174338, rs201222388, rs147710123, rs775410920, rs1193585808, rs565395435, rs757488156, rs1329105128, rs376025020 View all (2 more)	RCV000407392 RCV000301558 RCV000332803 RCV000279854 RCV001126907 RCV000307576 RCV000274190 RCV000398809 RCV000362301 RCV000400936 RCV001123144 RCV001126807 RCV001127211 RCV001123146 RCV001124231 RCV001127322 RCV001124228
NDUFS7-related disorder	Conflicting classifications of pathogenicity; Likely benign	rs552179138, rs761991540, rs370831422, rs140143043, rs1424443357, rs1369462876, rs1193081825, rs974518260, rs773528343, rs767407729	RCV003928860 RCV003961096 RCV003901106 RCV003939242 RCV003956618 RCV003959649 RCV003959734 RCV003944772 RCV003957206 RCV003968998
Sarcoma	Benign	rs1448433255	RCV005925295

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7)