• Gene id: 4724

Gene Summary

• Gene Symbol: NDUFS4   Gene   UCSC   Ensembl
• Aliases: AQDQ, CI-18, CI-18 kDa, CI-AQDQ, MC1DN1
• Gene name: NADH:ubiquinone oxidoreductase subunit S4
• Alternate names: NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial, NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase), NADH-ubiquinone oxidoreductase 18 kDa subunit, complex I 18kDa subunit, complex I-AQDQ, mitochondrial respi,
• Gene location: 5q11.2 (53560609: 53683337)     Exons: 8     NC_000005.10
• Gene summary(Entrez): This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiqui
• OMIM: 602694

Protein Summary

• Protein general information: O43181  
  • Name: NADH dehydrogenase [ubiquinone] iron sulfur protein 4, mitochondrial (Complex I 18 kDa) (CI 18 kDa) (Complex I AQDQ) (CI AQDQ) (NADH ubiquinone oxidoreductase 18 kDa subunit)
  • Length: 175  
  • Mass: 20108
• Sequence:

  MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLDITTLTGVPEEHIKTR
  KVRIFVPARNNMQSGVNNTKKWKMEFDTRERWENPLMGWASTADPLSNMVLTFSTKEDAVSFAEKNGWSYDIEER
  KVPKPKSKSYGANFSWNKRTRVSTK

• Structural information:
  • Interpro: IPR006885  IPR038532  
  • PDB: 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTD 5XTH 5XTI
  • STRING: ENSP00000296684
• Other Databases: GeneCards:  NDUFS4  Malacards:  NDUFS4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IBA	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0016651	oxidoreductase activity, acting on NAD(P)H	IEA	molecular function
GO:0022900	electron transport chain	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0001932	regulation of protein phosphorylation	IMP	biological process
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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0072593	reactive oxygen species metabolic process	IMP	biological process
GO:0048146	positive regulation of fibroblast proliferation	IMP	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IMP	contributes to
GO:0007420	brain development	IMP	biological process
GO:0005747	mitochondrial respiratory chain complex I	IMP	cellular component
GO:0045333	cellular respiration	IMP	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0051591	response to cAMP	IMP	biological process
GO:0051591	response to cAMP	IMP	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IMP	contributes to
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IMP	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IMP	cellular component
GO:0019933	cAMP-mediated signaling	IMP	biological process
GO:0019933	cAMP-mediated signaling	IMP	biological process

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
Leigh syndrome	KEGG:H01354
Mitochondrial complex I deficiency	KEGG:H00473
Leigh syndrome	KEGG:H01354
Leigh disease	PMID:19107570
Leigh disease	PMID:12616398
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)