• Gene id: 4731

Gene Summary

• Gene Symbol: NDUFV3   Gene   UCSC   Ensembl
• Aliases: CI-10k, CI-9KD
• Gene name: NADH:ubiquinone oxidoreductase subunit V3
• Alternate names: NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial, NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa, NADH-ubiquinone oxidoreductase 9 kD subunit, NADH-ubiquinone oxidoreductase 9 kDa subunit, NADH-ubiquinone oxidoreductase flavoprotein 3, 10k,
• Gene location: 21q22.3 (42893270: 42913298)     Exons: 5     NC_000021.9
• Gene summary(Entrez): The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and
• OMIM: 602184

Protein Summary

• Protein general information: P56181  
  • Name: NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial (Complex I 9kD) (CI 9kD) (NADH ubiquinone oxidoreductase 9 kDa subunit) (Renal carcinoma antigen NY REN 4)
  • Length: 108  
  • Mass: 11941
• Sequence:

  MAAPCLLRQGRAGALKTMLQEAQVFRGLASTVSLSAESGKSEKGQPQNSKKQSPPKKPAPVPAEPFDNTTYKNLQ
  HHDYSTYTFLDLNLELSKFRMPQPSSGRESPRH

• Structural information:
  • Interpro: IPR026193  
  • PDB: 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTD 5XTH 5XTI
  • STRING: ENSP00000346196
• Other Databases: GeneCards:  NDUFV3  Malacards:  NDUFV3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042775	mitochondrial ATP synthesis coupled electron transport	IBA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070469	respirasome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	TAS	molecular function
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0042775	mitochondrial ATP synthesis coupled electron transport	IMP	biological process
GO:0005747	mitochondrial respiratory chain complex I	IMP	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component

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
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray