• Gene id: 79133

Gene Summary

• Gene Symbol: NDUFAF5   Gene   UCSC   Ensembl
• Aliases: C20orf7, MC1DN16, bA526K24.2, dJ842G6.1
• Gene name: NADH:ubiquinone oxidoreductase complex assembly factor 5
• Alternate names: arginine-hydroxylase NDUFAF5, mitochondrial, NADH dehydrogenase (ubiquinone) complex I, assembly factor 5, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5, probable methyltransferase C20orf7, mitochondrial, putative methyltransferase NDUF,
• Gene location: 20p12.1 (13785025: 13821579)     Exons: 14     NC_000020.11
• Gene summary(Entrez): The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. Th
• OMIM: 612360

Protein Summary

• Protein general information: Q5TEU4  
  • Name: Arginine hydroxylase NDUFAF5, mitochondrial (EC 1. . . ) (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5) (Putative methyltransferase NDUFAF5) (EC 2.1.1. )
  • Length: 345  
  • Mass: 38918
• Sequence:

  MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEV
  GSRIADRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKEN
  TFDLVVSSLSLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDL
  GHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPAT
  YQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ

• Structural information:
  • Interpro: IPR013216  IPR029063  
  • STRING: ENSP00000367346
• Other Databases: GeneCards:  NDUFAF5  Malacards:  NDUFAF5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0030961	peptidyl-arginine hydroxylation	IMP	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0031314	extrinsic component of mitochondrial inner membrane	IDA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0003674	molecular_function	ND	molecular function

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)