• Gene id: 4697

Gene Summary

• Gene Symbol: NDUFA4   Gene   UCSC   Ensembl
• Aliases: CI-9k, CI-MLRQ, COXFA4, MLRQ
• Gene name: NDUFA4 mitochondrial complex associated
• Alternate names: cytochrome c oxidase subunit NDUFA4, Complex I 9kDa subunit, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4, NADH-ubiquinone oxidoreductase MLRQ subunit, complex I-MLRQ, cytochrome c oxi,
• Gene location: 7p21.3 (182716256: 182794463)     Exons: 26     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transf
• OMIM: 603833

Protein Summary

• Protein general information: O00483  
  • Name: Cytochrome c oxidase subunit NDUFA4 (Complex I MLRQ) (CI MLRQ) (NADH ubiquinone oxidoreductase MLRQ subunit)
  • Length: 81  
  • Mass: 9370
• Sequence:

  MLRQIIGQAKKHPSLIPLFVFIGTGATGATLYLLRLALFNPDVCWDRNNPEPWNKLGPNDQYKFYSVNVDYSKLK
  KERPDF

• Structural information:
  • Interpro: IPR010530  
  • PDB: 5Z62
  • PDBsum: 5Z62
  • STRING: ENSP00000339720
• Other Databases: GeneCards:  NDUFA4  Malacards:  NDUFA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005751	mitochondrial respiratory chain complex IV	IBA	cellular component
GO:0004129	cytochrome-c oxidase activity	IBA	contributes to
GO:0005751	mitochondrial respiratory chain complex IV	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	NOT|cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0004129	cytochrome-c oxidase activity	IMP	contributes to
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	TAS	molecular function
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	TAS	biological process
GO:0005751	mitochondrial respiratory chain complex IV	IEA	cellular component
GO:0005751	mitochondrial respiratory chain complex IV	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
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
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R