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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex I deficiency	Pathogenic	rs63751061	RCV000000826	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency, nuclear type 15	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASE	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDUFAF4-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18179882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18179882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	18179882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	28853723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	28853723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18179882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17001319, 17909269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17909269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	18179882, 22644603		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	18179882, 19463981, 23670274, 28853723	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	Mitochondrial Complex Deficiency	UNIPROT_DG	18179882, 28853723		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	28853723		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	Mitochondrial Complex Deficiency	CLINVAR_DG	28853723		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	19463981		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19463981	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	LHGDN	18179882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4)