Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29078
Gene name	NADH:ubiquinone oxidoreductase complex assembly factor 4
Gene symbol	NDUFAF4
Synonyms (NCBI Gene)	C6orf66HRPAP20HSPC125MC1DN15My013bA22L21.1
Chromosome	6
Chromosome location	6q16.1
Summary	NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane

Show/Hide all (55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031750	hsa-miR-16-5p	Proteomics	18668040
MIRT1178906	hsa-miR-1255a	CLIP-seq
MIRT1178907	hsa-miR-1255b	CLIP-seq
MIRT1178908	hsa-miR-134	CLIP-seq
MIRT1178909	hsa-miR-214	CLIP-seq
MIRT1178910	hsa-miR-3074-3p	CLIP-seq
MIRT1178911	hsa-miR-3118	CLIP-seq
MIRT1178912	hsa-miR-3120-3p	CLIP-seq
MIRT1178913	hsa-miR-3150b-3p	CLIP-seq
MIRT1178914	hsa-miR-3164	CLIP-seq
MIRT1178915	hsa-miR-3180-5p	CLIP-seq
MIRT1178916	hsa-miR-330-3p	CLIP-seq
MIRT1178917	hsa-miR-3619-5p	CLIP-seq
MIRT1178918	hsa-miR-3692	CLIP-seq
MIRT1178919	hsa-miR-3923	CLIP-seq
MIRT1178920	hsa-miR-4436b-5p	CLIP-seq
MIRT1178921	hsa-miR-4459	CLIP-seq
MIRT1178922	hsa-miR-4496	CLIP-seq
MIRT1178923	hsa-miR-4540	CLIP-seq
MIRT1178924	hsa-miR-4643	CLIP-seq
MIRT1178925	hsa-miR-4652-3p	CLIP-seq
MIRT1178926	hsa-miR-466	CLIP-seq
MIRT1178927	hsa-miR-4685-5p	CLIP-seq
MIRT1178928	hsa-miR-4689	CLIP-seq
MIRT1178929	hsa-miR-4722-5p	CLIP-seq
MIRT1178930	hsa-miR-4779	CLIP-seq
MIRT1178931	hsa-miR-4784	CLIP-seq
MIRT1178932	hsa-miR-4789-3p	CLIP-seq
MIRT1178933	hsa-miR-512-5p	CLIP-seq
MIRT1178934	hsa-miR-591	CLIP-seq
MIRT1178935	hsa-miR-758	CLIP-seq
MIRT1178936	hsa-miR-761	CLIP-seq
MIRT1178906	hsa-miR-1255a	CLIP-seq
MIRT1178907	hsa-miR-1255b	CLIP-seq
MIRT1178909	hsa-miR-214	CLIP-seq
MIRT2280879	hsa-miR-224	CLIP-seq
MIRT2280880	hsa-miR-2861	CLIP-seq
MIRT1178912	hsa-miR-3120-3p	CLIP-seq
MIRT1178913	hsa-miR-3150b-3p	CLIP-seq
MIRT1178917	hsa-miR-3619-5p	CLIP-seq
MIRT1178921	hsa-miR-4459	CLIP-seq
MIRT1178924	hsa-miR-4643	CLIP-seq
MIRT1178926	hsa-miR-466	CLIP-seq
MIRT1178928	hsa-miR-4689	CLIP-seq
MIRT1178929	hsa-miR-4722-5p	CLIP-seq
MIRT1178930	hsa-miR-4779	CLIP-seq
MIRT1178931	hsa-miR-4784	CLIP-seq
MIRT1178932	hsa-miR-4789-3p	CLIP-seq
MIRT1178936	hsa-miR-761	CLIP-seq
MIRT2579318	hsa-miR-4325	CLIP-seq
MIRT2579319	hsa-miR-4633-5p	CLIP-seq
MIRT2579320	hsa-miR-532-5p	CLIP-seq
MIRT2579318	hsa-miR-4325	CLIP-seq
MIRT2579319	hsa-miR-4633-5p	CLIP-seq
MIRT2579320	hsa-miR-532-5p	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19463981, 19688755, 24344204, 25416956, 25910212, 27499296, 32296183, 32814053, 33635491, 33961781
GO:0005516	Function	Calmodulin binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	18179882
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0010257	Process	NADH dehydrogenase complex assembly	IEA
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	19463981
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	18179882
GO:0051607	Process	Defense response to virus	IMP	33635491

MIM	HGNC	e!Ensembl
611776	21034	ENSG00000123545

Q9P032

Protein name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 (Hormone-regulated proliferation-associated protein of 20 kDa)

Protein function

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:18179882, PubMed:28853723). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tu

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06784	UPF0240	1 → 171	Uncharacterised protein family (UPF0240)	Family

Sequence

MGALVIRGIRNFNLENRAEREISKMKPSVAPRHPSTNSLLREQISLYPEVKGEIARKDEK
LLSFLKDVYVDSKDPVSSLQVKAAETCQEPKEFRLPKDHHFDMINIKSIPKGKISIVEAL
TLLNNHKLFPETWTAEKIMQEYQLEQKDVNSLLKYFVTFEVEIFPPEDKKAIRSK

Sequence length

175

Interactions

View interactions

	KEGG		Reactome
	Thermogenesis		Complex I biogenesis

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex I deficiency	Pathogenic	rs63751061	RCV000000826

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Benign	rs34213186	RCV005869924
Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs1775313687, rs11402, rs6684, rs139675421, rs117908219, rs886061824, rs772264922, rs116939090, rs7758762, rs886061825, rs886061827, rs9487453, rs1854268, rs886061823, rs184678986 View all (45 more)	RCV001333727 RCV000328919 RCV000271558 RCV001164696 RCV001164695 RCV000397295 RCV000297975 RCV000354926 RCV000262685 RCV000389364 RCV000291794 RCV000312171 RCV000369579 RCV000347095 RCV000386306 RCV000332635 RCV000345543 RCV000396406 RCV000396414 RCV000299285 RCV000323220 RCV000336098 RCV000404642 RCV000303762 RCV000360842 RCV000268561 RCV000320120 RCV000305325 RCV000325406 RCV000282372 RCV000275165 RCV000288104 RCV000339758 RCV000334469 RCV000356500 RCV000273464 RCV000277352 RCV000382393 RCV000284369 RCV000380202 RCV002279722 RCV001164693 RCV001160932 RCV001162539 RCV001162540 RCV001162541 RCV001162542 RCV001164580 RCV001164581 RCV001159665 RCV001159666 RCV001159667 RCV001161063 RCV001161064 RCV001162632 RCV001162633 RCV001164694 RCV001164697 RCV001164698 RCV001159770 RCV001159771
Mitochondrial complex I deficiency, nuclear type 15	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs1775406837, rs11402, rs6684, rs117908219, rs34213186, rs145392673, rs1554197721	RCV001330487 RCV001778735 RCV001778736 RCV001803001 RCV001778943 RCV000999808 RCV000754577
NDUFAF4-related disorder	Likely benign	rs369268980	RCV003978567
Nonpapillary renal cell carcinoma	Benign	rs34213186	RCV005869923

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	18179882
Cardiomyopathies	Associate	18179882
Leigh Disease	Associate	28853723
Mitochondrial complex I deficiency	Associate	18179882, 19463981, 23670274, 28853723
Mitochondrial Diseases	Associate	19463981

NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4)