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	4726
Gene name	NADH:ubiquinone oxidoreductase subunit S6
Gene symbol	NDUFS6
Synonyms (NCBI Gene)	CI-13kACI-13kD-ACI13KDAMC1DN9
Chromosome	5
Chromosome location	5p15.33
Summary	This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The s

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606913	G>A	Pathogenic	Missense variant, coding sequence variant
rs747442701	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs863224110	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863224111	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (16)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046190	hsa-miR-27b-3p	CLASH	23622248
MIRT041397	hsa-miR-193b-3p	CLASH	23622248
MIRT1179239	hsa-miR-1178	CLIP-seq
MIRT1179240	hsa-miR-513a-5p	CLIP-seq
MIRT2051781	hsa-miR-29a	CLIP-seq
MIRT2051782	hsa-miR-29b	CLIP-seq
MIRT2051783	hsa-miR-29c	CLIP-seq
MIRT2051784	hsa-miR-3065-3p	CLIP-seq
MIRT2051785	hsa-miR-4733-3p	CLIP-seq
MIRT1179239	hsa-miR-1178	CLIP-seq
MIRT2051781	hsa-miR-29a	CLIP-seq
MIRT2051782	hsa-miR-29b	CLIP-seq
MIRT2051783	hsa-miR-29c	CLIP-seq
MIRT2051784	hsa-miR-3065-3p	CLIP-seq
MIRT2051785	hsa-miR-4733-3p	CLIP-seq
MIRT1179240	hsa-miR-513a-5p	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
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:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IBA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9647766, 9878551
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9647766, 9878551
GO:0009055	Function	Electron transfer activity	NAS	9647766
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0017145	Process	Stem cell division	IEA
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891, 27626371
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	NAS	9878551, 15372108
GO:0051881	Process	Regulation of mitochondrial membrane potential	IEA
GO:0061458	Process	Reproductive system development	IEA
GO:0072359	Process	Circulatory system development	IEA
GO:0072497	Process	Mesenchymal stem cell differentiation	IEA
GO:0072593	Process	Reactive oxygen species metabolic process	IEA
GO:0090398	Process	Cellular senescence	IEA
GO:0097168	Process	Mesenchymal stem cell proliferation	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
603848	7713	ENSG00000145494

O75380

Protein name

NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial (Complex I-13kD-A) (CI-13kD-A) (NADH-ubiquinone oxidoreductase 13 kDa-A subunit)

Protein function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat

PDB

5XTB , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10276	zf-CHCC	82 → 119	Zinc-finger domain	Domain

Sequence

MAAAMTFCRLLNRCGEAARSLPLGARCFGVRVSPTGEKVTHTGQVYDDKDYRRIRFVGRQ
KEVNENFAIDLIAEQPVSEVETRVIACDGGGGALGHPKVYINLDKETKTGTCGYCGLQFR
QHHH

Sequence length

124

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
Cervical cancer	Likely pathogenic; Pathogenic	rs763535523	RCV005909287
Mitochondrial complex I deficiency, nuclear type 9	Likely pathogenic; Pathogenic	rs769666581, rs1734300591, rs112210581, rs759473851, rs1169689300, rs1561102614, rs267606913, rs2477240345, rs2477240280, rs2477243665, rs2477240409, rs1182595182, rs773292120, rs1734061080, rs1561102612 View all (3 more)	RCV003475305 RCV003465938 RCV005254706 RCV003475522 RCV004571179 RCV000006387 RCV000006389 RCV003135350 RCV003463108 RCV003463109 RCV003463110 RCV003471398 RCV003471399 RCV003471400 RCV003471401 RCV005047741 RCV004576319 RCV004576320 RCV000985110 RCV001263153

Show/Hide Unknown Diseases (3)

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; Uncertain significance; Likely benign; Benign	rs376509886, rs187737486, rs192286856, rs2477214146, rs140887831, rs140619622, rs556405335, rs765884582, rs755222875, rs1014264454, rs763463147, rs147278612, rs149406977, rs773991515, rs748728259	RCV001276588 RCV001271675 RCV001828026 RCV005616617 RCV005609018 RCV001271674 RCV001833535 RCV001825796 RCV001274253 RCV001276589 RCV001271672 RCV001278382 RCV001271673 RCV001271676 RCV001278383 RCV001278384
Mitochondrial complex I deficiency, nuclear type 1	Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs145747389, rs376509886, rs886060511, rs768060274, rs10058270, rs745565855, rs370587409, rs886060512, rs140887831, rs200445799, rs755222875, rs773943416, rs145407020, rs994577006	RCV000328048 RCV001151850 RCV000384846 RCV000322258 RCV000287086 RCV000335066 RCV000281355 RCV000283526 RCV000378962 RCV000396662 RCV001153088 RCV001151849 RCV001155705 RCV001155706
NDUFS6-related disorder	Likely benign	rs769132703, rs1734034793	RCV003938767 RCV003946832

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Charcot Marie Tooth Disease	Associate	38549004
Depression Postpartum	Associate	35801790
Hypertension Pulmonary	Associate	35801790
Mitochondrial complex I deficiency	Associate	19259137, 35801790
Multiple Myeloma	Associate	37558663
Pyruvate Dehydrogenase Complex Deficiency Disease	Associate	19259137
Syndrome	Associate	35801790
Uterine Cervical Neoplasms	Associate	18559093

NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6)