• Gene id: 51103

Gene Summary

• Gene Symbol: NDUFAF1   Gene   UCSC   Ensembl
• Aliases: CGI-65, CGI65, CIA30, MC1DN11
• Gene name: NADH:ubiquinone oxidoreductase complex assembly factor 1
• Alternate names: complex I intermediate-associated protein 30, mitochondrial, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1, NADH dehydrogenase (ubiquinone) complex I, assembly factor 1, NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly fact,
• Gene location: 15q15.1 (41402500: 41387352)     Exons: 6     NC_000015.10
• Gene summary(Entrez): This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the transloca
• OMIM: 606934

Protein Summary

• Protein general information: Q9Y375  
  • Name: Complex I intermediate associated protein 30, mitochondrial (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1)
  • Length: 327  
  • Mass: 37764
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MALVHKLLRGTYFLRKFSKPTSALYPFLGIRFAEYSSSLQKPVASPGKASSQRKTEGDLQGDHQKEVALDITSSE
  EKPDVSFDKAIRDEAIYHFRLLKDEIVDHWRGPEGHPLHEVLLEQAKVVWQFRGKEDLDKWTVTSDKTIGGRSEV
  FLKMGKNNQSALLYGTLSSEAPQDGESTRSGYCAMISRIPRGAFERKMSYDWSQFNTLYLRVRGDGRPWMVNIKE
  DTDFFQRTNQMYSYFMFTRGGPYWQEVKIPFSKFFFSNRGRIRDVQHELPLDKISSIGFTLADKVDGPFFLEIDF
  IGVFTDPAHTEEFAYENSPELNPRLFK

• Structural information:
  • Interpro: IPR008979  IPR013857  IPR039131  
  • STRING: ENSP00000260361
• Other Databases: GeneCards:  NDUFAF1  Malacards:  NDUFAF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	IBA	biological process
GO:0051082	unfolded protein binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0010257	NADH dehydrogenase complex assembly	IBA	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IBA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IEA	biological process
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:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0051131	chaperone-mediated protein complex assembly	IDA	biological process
GO:0065003	protein-containing complex assembly	NAS	biological process
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051082	unfolded protein binding	NAS	molecular function
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Mitochondrial complex I deficiency	KEGG:H00473
Mitochondrial complex I deficiency	KEGG:H00473
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)