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	25915
Gene name	NADH:ubiquinone oxidoreductase complex assembly factor 3
Gene symbol	NDUFAF3
Synonyms (NCBI Gene)	2P1C3orf60E3-3MC1DN18
Chromosome	3
Chromosome location	3p21.31
Summary	This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced

Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052369	hsa-let-7a-5p	CLASH	23622248
MIRT050200	hsa-miR-25-3p	CLASH	23622248
MIRT048713	hsa-miR-98-5p	CLASH	23622248
MIRT723446	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT723445	hsa-miR-221-5p	HITS-CLIP	19536157
MIRT723444	hsa-miR-8073	HITS-CLIP	19536157
MIRT723443	hsa-miR-3190-5p	HITS-CLIP	19536157
MIRT723442	hsa-miR-3926	HITS-CLIP	19536157
MIRT723441	hsa-miR-548s	HITS-CLIP	19536157
MIRT723440	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT723439	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT723438	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT723445	hsa-miR-221-5p	PAR-CLIP	27292025
MIRT723444	hsa-miR-8073	PAR-CLIP	27292025
MIRT723446	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT723445	hsa-miR-221-5p	HITS-CLIP	19536157
MIRT723444	hsa-miR-8073	HITS-CLIP	19536157
MIRT723443	hsa-miR-3190-5p	HITS-CLIP	19536157
MIRT723442	hsa-miR-3926	HITS-CLIP	19536157
MIRT723441	hsa-miR-548s	HITS-CLIP	19536157
MIRT723440	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT723439	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT723438	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT1178895	hsa-miR-1228	CLIP-seq
MIRT1178896	hsa-miR-23a	CLIP-seq
MIRT1178897	hsa-miR-23b	CLIP-seq
MIRT1178898	hsa-miR-23c	CLIP-seq
MIRT1178899	hsa-miR-329	CLIP-seq
MIRT1178900	hsa-miR-335	CLIP-seq
MIRT1178901	hsa-miR-3622a-3p	CLIP-seq
MIRT1178902	hsa-miR-3622b-3p	CLIP-seq
MIRT1178903	hsa-miR-362-3p	CLIP-seq
MIRT1178904	hsa-miR-412	CLIP-seq
MIRT1178905	hsa-miR-4435	CLIP-seq
MIRT2455037	hsa-miR-1283	CLIP-seq
MIRT2455038	hsa-miR-3618	CLIP-seq
MIRT2455039	hsa-miR-4470	CLIP-seq
MIRT2455040	hsa-miR-4742-5p	CLIP-seq
MIRT2455037	hsa-miR-1283	CLIP-seq
MIRT2455038	hsa-miR-3618	CLIP-seq
MIRT2455039	hsa-miR-4470	CLIP-seq
MIRT2455040	hsa-miR-4742-5p	CLIP-seq
MIRT2579303	hsa-miR-302a	CLIP-seq
MIRT2579304	hsa-miR-302b	CLIP-seq
MIRT2579305	hsa-miR-302c	CLIP-seq
MIRT2579306	hsa-miR-302d	CLIP-seq
MIRT2579307	hsa-miR-3161	CLIP-seq
MIRT2579308	hsa-miR-372	CLIP-seq
MIRT2579309	hsa-miR-373	CLIP-seq
MIRT2579310	hsa-miR-4434	CLIP-seq
MIRT2579311	hsa-miR-4516	CLIP-seq
MIRT2579312	hsa-miR-4698	CLIP-seq
MIRT2579313	hsa-miR-4781-3p	CLIP-seq
MIRT2579314	hsa-miR-4795-3p	CLIP-seq
MIRT2579315	hsa-miR-519a	CLIP-seq
MIRT2579316	hsa-miR-568	CLIP-seq
MIRT2579317	hsa-miR-944	CLIP-seq
MIRT2579303	hsa-miR-302a	CLIP-seq
MIRT2579304	hsa-miR-302b	CLIP-seq
MIRT2579305	hsa-miR-302c	CLIP-seq
MIRT2579306	hsa-miR-302d	CLIP-seq
MIRT2579307	hsa-miR-3161	CLIP-seq
MIRT2579308	hsa-miR-372	CLIP-seq
MIRT2579309	hsa-miR-373	CLIP-seq
MIRT2579310	hsa-miR-4434	CLIP-seq
MIRT2579311	hsa-miR-4516	CLIP-seq
MIRT2579312	hsa-miR-4698	CLIP-seq
MIRT2579313	hsa-miR-4781-3p	CLIP-seq
MIRT2579314	hsa-miR-4795-3p	CLIP-seq
MIRT2579315	hsa-miR-519a	CLIP-seq
MIRT2579316	hsa-miR-568	CLIP-seq
MIRT2579317	hsa-miR-944	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19463981, 19688755, 24344204, 25416956, 25910212, 27499296, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	19463981
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0016020	Component	Membrane	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	19463981

MIM	HGNC	e!Ensembl
612911	29918	ENSG00000178057

Q9BU61

Protein name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3

Protein function

Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04430	DUF498	60 → 168	Protein of unknown function (DUF498/DUF598)	Domain

Sequence

MATALALRSLYRARPSLRCPPVELPWAPRRGHRLSPADDELYQRTRISLLQREAAQAMYI
DSYNSRGFMINGNRVLGPCALLPHSVVQWNVGSHQDITEDSFSLFWLLEPRIEIVVVGTG
DRTERLQSQVLQAMRQRGIAVEVQDTPNACATFNFLCHEGRVTGAALIPPPGGTSLTSLG
QAAQ

Sequence length

184

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, nuclear type 18	Pathogenic; Likely pathogenic	rs121918134, rs121918135, rs121918136, rs2106770574, rs1242685917, rs762398743, rs138275059	RCV000000450 RCV000000451 RCV000000452 RCV003338188 RCV003459882 RCV003459883 RCV000790864 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

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.
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial complex I deficiency, nuclear type 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDUFAF3-related disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	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
Hypertrichosis	HYPERTRICHOSIS	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
Intellectual Disability	Mental retardation	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	27986404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh syndrome with cardiomyopathy	Leigh Syndrome With Cardiomyopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	29344937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20304996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	19463981, 27604308		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	19463981, 22644603		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	19463981	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18	Mitochondrial Complex Deficiency	UNIPROT_DG	19463981, 27986404		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	19463981, 27986404		★★★★★ ★★☆☆☆ 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 Myopathies	Mitochondrial 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
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)