• Gene id: 25915

Gene Summary

• Gene Symbol: NDUFAF3   Gene   UCSC   Ensembl
• Aliases: 2P1, C3orf60, E3-3, MC1DN18
• Gene name: NADH:ubiquinone oxidoreductase complex assembly factor 3
• Alternate names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3, NADH dehydrogenase (ubiquinone) complex I, assembly factor 3, nuclear protein E3-3,
• Gene location: 3p21.31 (49020474: 49023494)     Exons: 8     NC_000003.12
• Gene summary(Entrez): This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced
• OMIM: 612911

Protein Summary

• Protein general information: Q9BU61  
  • Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
  • Length: 184  
  • Mass: 20350
• Sequence:

  MATALALRSLYRARPSLRCPPVELPWAPRRGHRLSPADDELYQRTRISLLQREAAQAMYIDSYNSRGFMINGNRV
  LGPCALLPHSVVQWNVGSHQDITEDSFSLFWLLEPRIEIVVVGTGDRTERLQSQVLQAMRQRGIAVEVQDTPNAC
  ATFNFLCHEGRVTGAALIPPPGGTSLTSLGQAAQ

• Structural information:
  • Interpro: IPR036748  IPR034095  IPR007523  
  • CDD: cd05125
  • STRING: ENSP00000323076
• Other Databases: GeneCards:  NDUFAF3  Malacards:  NDUFAF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032981	mitochondrial respiratory chain complex I assembly	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	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: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:0005634	nucleus	IDA	cellular component
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: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: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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray