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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25915
Gene name Gene Name - the full gene name approved by the HGNC.	NADH:ubiquinone oxidoreductase complex assembly factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NDUFAF3
Synonyms (NCBI Gene) Gene synonyms aliases	2P1, C3orf60, E3-3, MC1DN18
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mitochondrial Complex Deficiency	Mitochondrial complex 1 deficiency, nuclear type 18	rs121918134, rs121918135, rs121918136, rs138275059	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Leigh Syndrome With Cardiomyopathy	Leigh syndrome with cardiomyopathy	N/A	N/A	GenCC
Mitochondrial Diseases	mitochondrial disease	N/A	N/A	GenCC

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)