NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5)

Gene

• Entrez ID: 79133
• Gene name: NADH:ubiquinone oxidoreductase complex assembly factor 5
• Gene symbol: NDUFAF5
• Synonyms (NCBI Gene): C20orf7, MC1DN16, bA526K24.2, dJ842G6.1
• Chromosome: 20
• Chromosome location: 20p12.1
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203929	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs150613320	G>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs150955045	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs267606689	A>C	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, intron variant, non coding transcript variant
rs746405080	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs757043077	G>T	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs761389904	T>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs778575439	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs1040187200	T>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, intron variant, coding sequence variant
rs1555830705	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs1555834773	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	ISS
GO:0005515	Function	Protein binding	IPI	27226634, 27499296, 28514442, 33961781, 35614220
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	27226634
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008757	Function	S-adenosylmethionine-dependent methyltransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	18940309, 27226634
GO:0099617	Component	Matrix side of mitochondrial inner membrane	IDA	18940309

Other IDs

• MIM: 612360
• HGNC: 15899
• e!Ensembl: ENSG00000101247

Protein

• UniProt ID: Q5TEU4
• Protein name: Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.-.-.-) (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5) (Putative methyltransferase NDUFAF5) (EC 2.1.1.-)
• Protein function: Arginine hydroxylase that mediates hydroxylation of 'Arg-111' of NDUFS7 and is involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). May also have
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08241	Methyltransf_11	94 → 186	Methyltransferase domain	Domain

• Sequence:

  MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAA
  RQPEPTKFDYLKEEVGSRIADRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADI
  AENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLSLHWVNDLPRALEQIHYILKP
  DGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD
  TDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPAT
  YQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ

• Sequence length: 345

Pathways

KEGG:

Thermogenesis

Reactome:

Complex I biogenesis

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Leber Plus Disease	leber plus disease	rs1555830705	N/A
leigh syndrome	Leigh syndrome	rs150613320, rs761389904	N/A
Mitochondrial Complex Deficiency	mitochondrial complex i deficiency, Mitochondrial complex 1 deficiency, nuclear type 16, Mitochondrial complex I deficiency, nuclear type 1	rs150613320, rs118203929, rs757043077, rs267606689, rs576780935, rs531254130, rs1555834773, rs761389904, rs1600305570	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Leigh Syndrome With Leukodystrophy	Leigh syndrome with leukodystrophy	N/A	N/A	GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Callosities	Associate	37718619
Congenital Abnormalities	Associate	37718619
COVID 19	Associate	33173052
Cysts	Associate	37718619
Death	Associate	34964562
Dyspnea	Associate	29581464
Fetal Growth Retardation	Associate	37718619
Hydrops Fetalis	Associate	37718619
Hypersensitivity Delayed	Associate	29581464
Hyponatremia	Associate	30473481
Infant Death	Associate	34964562
Leigh Disease	Associate	19542079, 34964562, 36675121, 37718619, 38458030
Mitochondrial complex I deficiency	Associate	18940309, 19542079, 23536703, 37718619, 38458030
Mitochondrial Diseases	Associate	18940309, 23536703, 34964562
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	30473481
Spasms Infantile	Associate	35830182