NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)

Gene

• Entrez ID: 51103
• Gene name: NADH:ubiquinone oxidoreductase complex assembly factor 1
• Gene symbol: NDUFAF1
• Synonyms (NCBI Gene): CGI-65, CGI65, CIA30, MC1DN11
• Chromosome: 15
• Chromosome location: 15q15.1
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs150539399	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs376344575	C>A,G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387906956	T>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387906957	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387906958	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs780401493	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs863224089	A>G	Pathogenic	Missense variant, initiator codon variant, non coding transcript variant
rs1064793767	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028594	hsa-miR-30a-5p	Proteomics	18668040

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17344420, 20816094, 32296183, 32320651, 33753518
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	16218961
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	32320651
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IBA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	11935339
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	16218961
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	NAS	32320651
GO:0051082	Function	Unfolded protein binding	IBA
GO:0051082	Function	Unfolded protein binding	NAS	11935339
GO:0051131	Process	Chaperone-mediated protein complex assembly	IDA	17344420
GO:0065003	Process	Protein-containing complex assembly	NAS	11935339

Other IDs

• MIM: 606934
• HGNC: 18828
• e!Ensembl: ENSG00000137806

Protein

• UniProt ID: Q9Y375
• Protein name: Complex I intermediate-associated protein 30, mitochondrial (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1)
• Protein function: As part of the MCIA complex, involved in the assembly of the mitochondrial complex I.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08547	CIA30	125 → 298	Complex I intermediate-associated protein 30 (CIA30)	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11935339}.
• Sequence:

  MALVHKLLRGTYFLRKFSKPTSALYPFLGIRFAEYSSSLQKPVASPGKASSQRKTEGDLQ
  GDHQKEVALDITSSEEKPDVSFDKAIRDEAIYHFRLLKDEIVDHWRGPEGHPLHEVLLEQ
  AKVVWQFRGKEDLDKWTVTSDKTIGGRSEVFLKMGKNNQSALLYGTLSSEAPQDGESTRS
  GYCAMISRIPRGAFERKMSYDWSQFNTLYLRVRGDGRPWMVNIKEDTDFFQRTNQMYSYF
  MFTRGGPYWQEVKIPFSKFFFSNRGRIRDVQHELPLDKISSIGFTLADKVDGPFFLEIDF
  IGVFTDPAHTEEFAYENSPELNPRLFK

• Sequence length: 327

Pathways

KEGG:

Thermogenesis

Reactome:

Complex I biogenesis

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Mitochondrial complex I deficiency, nuclear type 11	Pathogenic	rs387906956	RCV000023597

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Colon adenocarcinoma	Uncertain significance	rs770333609	RCV005932167
Malignant lymphoma, large B-cell, diffuse	Benign	rs3204853	RCV005889140
Mitochondrial complex I deficiency	Uncertain significance	rs759274620	RCV000784994
Mitochondrial complex I deficiency, nuclear type 1	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs1899, rs3204853, rs12900702, rs180730324, rs35227875, rs34979001, rs150539399, rs145122315, rs372385045, rs151286131, rs146540015, rs200472799, rs866015009, rs190265352, rs73407109, rs148982578, rs886051145, rs760649120, rs886051146, rs886051143, rs146883891, rs369431865, rs886051144, rs532681188, rs111326645, rs769371844, rs759432475, rs576430165, rs764849578, rs759057658, rs1406147170, rs751720445, rs561102841, rs948869374, rs762867624	RCV000314089 RCV000367569 RCV000348185 RCV000371026 RCV000336396 RCV001120993 RCV001120991 RCV000282770 RCV000398311 RCV000408081 RCV001116067 RCV000301292 RCV000342483 RCV000272915 RCV000402188 RCV000275249 RCV000383639 RCV000320670 RCV000377592 RCV000297831 RCV000342761 RCV000269256 RCV000326685 RCV000285408 RCV000371953 RCV001119016 RCV001120992 RCV001120994 RCV001116065 RCV001116066 RCV001116068 RCV001117510 RCV001117511 RCV001117512 RCV001119109
NDUFAF1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs150539399, rs145122315, rs554392341, rs531348866	RCV003927794 RCV003907735 RCV003958942 RCV003953364
Uterine carcinosarcoma	Benign	rs3204853	RCV005889141
Uterine corpus endometrial carcinoma	Uncertain significance	rs765203135	RCV005931386

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Kidney Injury	Associate	33863396
Mitochondrial complex I deficiency	Associate	16218961
Mitochondrial Diseases	Associate	25714130
Ovarian Neoplasms	Associate	32149080
Pancreatic Neoplasms	Associate	25714130
Respiration Disorders	Inhibit	25714130
Shock Septic	Associate	33863396