• Gene id: 4704

Gene Summary

• Gene Symbol: NDUFA9   Gene   UCSC   Ensembl
• Aliases: CC6, CI-39k, CI39k, COQ11, MC1DN26, NDUFS2L, SDR22E1
• Gene name: NADH:ubiquinone oxidoreductase subunit A9
• Alternate names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial, CI-39kD, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa, NADH dehydrogenase (ubiquinone) Fe-S protein 2-like (NADH-coenzyme Q reductase), NADH-ubiquinone oxidoreductase,
• Gene location: 12p13.32 (4649113: 4694316)     Exons: 11     NC_000012.12
• Gene summary(Entrez): The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified
• OMIM: 603834

Protein Summary

• Protein general information: Q16795  
  • Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial (Complex I 39kD) (CI 39kD) (NADH ubiquinone oxidoreductase 39 kDa subunit)
  • Length: 377  
  • Mass: 42510
• Sequence:

  MAAAAQSRVVRVLSMSRSAITAIATSVCHGPPCRQLHHALMPHGKGGRSSVSGIVATVFGATGFLGRYVVNHLGR
  MGSQVIIPYRCDKYDIMHLRPMGDLGQLLFLEWDARDKDSIRRVVQHSNVVINLIGRDWETKNFDFEDVFVKIPQ
  AIAQLSKEAGVEKFIHVSHLNANIKSSSRYLRNKAVGEKVVRDAFPEAIIVKPSDIFGREDRFLNSFASMHRFGP
  IPLGSLGWKTVKQPVYVVDVSKGIVNAVKDPDANGKSFAFVGPSRYLLFHLVKYIFAVAHRLFLPFPLPLFAYRW
  VARVFEISPFEPWITRDKVERMHITDMKLPHLPGLEDLGIQATPLELKAIEVLRRHRTYRWLSAEIEDVKPAKTV
  NI

• Structural information:
  • Interpro: IPR001509  IPR036291  
  • PDB: 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTD 5XTH 5XTI
  • DIP: 38526
  • STRING: ENSP00000266544
• Other Databases: GeneCards:  NDUFA9  Malacards:  NDUFA9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901006	ubiquinone-6 biosynthetic process	IBA	biological process
GO:0003954	NADH dehydrogenase activity	IBA	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0007623	circadian rhythm	IDA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009749	response to glucose	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0006814	sodium ion transport	NAS	biological process
GO:0005634	nucleus	HDA	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
GO:0003954	NADH dehydrogenase activity	IMP	molecular function
GO:0003954	NADH dehydrogenase activity	NAS	molecular function
GO:0005515	protein binding	IPI	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
Leigh syndrome	KEGG:H01354
Leigh syndrome	KEGG:H01354
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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