• Gene id: 4726

Gene Summary

• Gene Symbol: NDUFS6   Gene   UCSC   Ensembl
• Aliases: CI-13kA, CI-13kD-A, CI13KDA, MC1DN9
• Gene name: NADH:ubiquinone oxidoreductase subunit S6
• Alternate names: NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial, NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase), NADH-ubiquinone oxidoreductase 13 kDa-A subunit, NADH:ubiquinone oxidoreductase NDUFS6 subunit, complex I ,
• Gene location: 5p15.33 (40508718: 40516049)     Exons: 5     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 603848

Protein Summary

• Protein general information: O75380  
  • Name: NADH dehydrogenase [ubiquinone] iron sulfur protein 6, mitochondrial (Complex I 13kD A) (CI 13kD A) (NADH ubiquinone oxidoreductase 13 kDa A subunit)
  • Length: 124  
  • Mass: 13712
• Sequence:

  MAAAMTFCRLLNRCGEAARSLPLGARCFGVRVSPTGEKVTHTGQVYDDKDYRRIRFVGRQKEVNENFAIDLIAEQ
  PVSEVETRVIACDGGGGALGHPKVYINLDKETKTGTCGYCGLQFRQHHH

• Structural information:
  • Interpro: IPR016668  IPR019401  
  • PDB: 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTD 5XTH 5XTI
  • STRING: ENSP00000274137
• Other Databases: GeneCards:  NDUFS6  Malacards:  NDUFS6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	IBA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	IEA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0070584	mitochondrion morphogenesis	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0072358	cardiovascular system development	IEA	biological process
GO:0061458	reproductive system development	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IEA	biological process
GO:0022904	respiratory electron transport chain	IEA	biological process
GO:0010259	multicellular organism aging	IEA	biological process
GO:0006936	muscle contraction	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0009055	electron transfer activity	NAS	molecular function
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa04723	Retrograde endocannabinoid signaling
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease

Diseases

Associated diseases	References
Mitochondrial complex I deficiency	KEGG:H00473
Mitochondrial complex I deficiency	KEGG:H00473
cervical cancer	PMID:18559093
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility, Embryo quality	MIK: 26361204
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray