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

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, nuclear type 18	Pathogenic; Likely pathogenic	rs121918134, rs121918135, rs121918136, rs2106770574, rs1242685917, rs762398743, rs138275059	RCV000000450 RCV000000451 RCV000000452 RCV003338188 RCV003459882 RCV003459883 RCV000790864

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Uncertain significance	rs147760763	RCV005930440
Familial cancer of breast	Uncertain significance	rs147760763	RCV005930439
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs200789117	RCV005907683
Mitochondrial complex I deficiency	Conflicting classifications of pathogenicity; Uncertain significance	rs752864722, rs886058666	RCV000190607 RCV000289178
Mitochondrial complex I deficiency, nuclear type 1	Conflicting classifications of pathogenicity; Uncertain significance	rs587781096, rs527954570, rs200576852, rs886058665, rs75749590, rs886058667, rs886058668, rs886058662, rs886058663, rs573066357, rs770941671, rs774901107, rs544277179, rs374825937, rs886058669 View all (17 more)	RCV001149380 RCV001336161 RCV001145085 RCV000368268 RCV000381247 RCV000327772 RCV000278447 RCV000298090 RCV000355315 RCV000276027 RCV000376672 RCV000284541 RCV000341917 RCV000401207 RCV000335789 RCV000393605 RCV000263161 RCV000329996 RCV000333640 RCV001336162 RCV001145090 RCV001145089 RCV001147842 RCV001147843 RCV001149378 RCV001149379 RCV001149381 RCV001145086 RCV001145087 RCV001145088 RCV001147044 RCV001147045 RCV001147046
NDUFAF3-related disorder	Conflicting classifications of pathogenicity	rs202104160	RCV003905647
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs587781096	RCV005886697

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Mitochondrial complex I deficiency	Associate	19463981
Mitochondrial Diseases	Associate	19463981
Neoplasms	Associate	31907990

NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)