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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4726
Gene name Gene Name - the full gene name approved by the HGNC.	NADH:ubiquinone oxidoreductase subunit S6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NDUFS6
Synonyms (NCBI Gene) Gene synonyms aliases	CI-13kA, CI-13kD-A, CI13KDA, MC1DN9
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MC1DN9
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p15.33
Summary Summary of gene provided in NCBI Entrez Gene.	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(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005747	Component	Mitochondrial respiratory chain complex I	IBA	21873635
GO:0005747	Component	Mitochondrial respiratory chain complex I	IDA	12611891, 27626371
GO:0005747	Component	Mitochondrial respiratory chain complex I	NAS	9878551, 15372108
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IBA	21873635
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9647766, 9878551
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	TAS
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9647766, 9878551
GO:0009055	Function	Electron transfer activity	NAS	9647766
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	TAS

MIM	HGNC	e!Ensembl
603848	7713	ENSG00000145494

Protein

UniProt ID

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 (11)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377 View all (752 more)
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604 View all (6 more)
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Mitochondrial complex deficiency	MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9	rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863 View all (210 more)	27290639, 15372108, 27604308, 22644603, 19259137
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Mitochondrial Complex Deficiency	mitochondrial complex I deficiency, nuclear type, mitochondrial complex 1 deficiency, nuclear type 9, mitochondrial complex I deficiency	GenCC
Mitochondrial Diseases	mitochondrial disease	GenCC

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
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)