• Gene id: 55471

Gene Summary

• Gene Symbol: NDUFAF7   Gene   UCSC   Ensembl
• Aliases: C2orf56, MidA, PRO1853
• Gene name: NADH:ubiquinone oxidoreductase complex assembly factor 7
• Alternate names: protein arginine methyltransferase NDUFAF7, mitochondrial, NADH dehydrogenase (ubiquinone) complex I, assembly factor 7, NADH dehydrogenase [ubiquinone] complex I, assembly factor 7, mitochondrial dysfunction protein A homolog, protein midA homolog, mitochond,
• Gene location: 2p22.2 (62861821: 62841004)     Exons: 9     NC_000020.11
• Gene summary(Entrez): This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including
• OMIM: 615898

Protein Summary

• Protein general information: Q7L592  
  • Name: Protein arginine methyltransferase NDUFAF7, mitochondrial (EC 2.1.1.320) (NADH dehydrogenase [ubiquinone] complex I, assembly factor 7) (Protein midA homolog)
  • Length: 441  
  • Mass: 49238
• Sequence:

  MSVLLRSGLGPLCAVARAAIPFIWRGKYFSSGNEPAENPVTPMLRHLMYKIKSTGPITVAEYMKEVLTNPAKGYY
  VYRDMLGEKGDFITSPEISQIFGELLGIWFISEWMATGKSTAFQLVELGPGRGTLVGDILRVFTQLGSVLKNCDI
  SVHLVEVSQKLSEIQALTLTKEKVPLERNAGSPVYMKGVTKSGIPISWYRDLHDVPKGYSFYLAHEFFDVLPVHK
  FQKTPQGWREVFVDIDPQVSDKLRFVLAPSATPAEAFIQHDETRDHVEVCPDAGVIIEELSQRIALTGGAALVAD
  YGHDGTKTDTFRGFCDHKLHDVLIAPGTADLTADVDFSYLRRMAQGKVASLGPIKQHTFLKNMGIDVRLKVLLDK
  SNEPSVRQQLLQGYDMLMNPKKMGERFNFFALLPHQRLQGGRYQRNARQSKPFASVVAGFSELAWQ

• Structural information:
  • Interpro: IPR003788  IPR038375  IPR029063  
  • STRING: ENSP00000002125
• Other Databases: GeneCards:  NDUFAF7  Malacards:  NDUFAF7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IBA	biological process
GO:0035243	protein-arginine omega-N symmetric methyltransferase activity	IBA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0035243	protein-arginine omega-N symmetric methyltransferase activity	IMP	molecular function
GO:0019918	peptidyl-arginine methylation, to symmetrical-dimethyl arginine	IMP	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0035243	protein-arginine omega-N symmetric methyltransferase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	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:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0008168	methyltransferase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
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)