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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	137682
Gene name Gene Name - the full gene name approved by the HGNC.	NADH:ubiquinone oxidoreductase complex assembly factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NDUFAF6
Synonyms (NCBI Gene) Gene synonyms aliases	C8orf38, FRTS5, MC1DN17, lncREST
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain

Show/Hide all(21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853184	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs201088736	G>C	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs201732170	T>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant
rs202047755	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs552141388	T>C,G	Likely-pathogenic	Initiator codon variant, genic downstream transcript variant, non coding transcript variant, intron variant, missense variant, 5 prime UTR variant
rs758181982	A>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs762093523	A>-,AA	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs762620949	G>A,T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs765915512	TACTT>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs768273248	C>G,T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs777821109	G>T	Pathogenic	5 prime UTR variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs863223931	TC>-	Likely-pathogenic	Genic downstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs863223932	TGCTCCCTGC>-,TGCTCCCTGCTGCTCCCTGC	Likely-pathogenic	Genic downstream transcript variant, 5 prime UTR variant, non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1057519084	T>C	Pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs1057519085	A>T	Pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs1057519086	A>G	Pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs1085307635	C>G	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1131692157	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs1224421127	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant, non coding transcript variant
rs1463009913	->GT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant, genic downstream transcript variant, 5 prime UTR variant
rs1554669910	->T	Pathogenic	Genic downstream transcript variant, splice donor variant

Show/Hide all(28)

miRTarBase ID	miRNA	Experiments	Reference
MIRT644367	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT644366	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT644365	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT644364	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT644363	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT644362	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT644361	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT644360	hsa-miR-1225-3p	HITS-CLIP	23824327
MIRT644359	hsa-miR-1233-3p	HITS-CLIP	23824327
MIRT644358	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT644357	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT644356	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT644355	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT644354	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT644367	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT644366	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT644365	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT644364	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT644363	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT644362	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT644361	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT644360	hsa-miR-1225-3p	HITS-CLIP	23824327
MIRT644359	hsa-miR-1233-3p	HITS-CLIP	23824327
MIRT644358	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT644357	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT644356	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT644355	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT644354	hsa-miR-3679-3p	HITS-CLIP	23824327

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	22019594
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	22019594
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	22019594
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	IMP	22019594

MIM	HGNC	e!Ensembl
612392	28625	ENSG00000156170

Protein

UniProt ID

Q330K2

Protein name

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 (Putative phytoene synthase)

Protein function

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of complex I subunit MT-ND1.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00494	SQS_PSY	65 → 321		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. A lower expression is observed in lung and kidney compared to heart, muscle and liver (PubMed:27466185). In the kidney, expression is high in the basal zone of the proximal tubular cells (PubMed:27466185). {ECO:000026

Sequence

MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGPGAWGTDHY
CLELLRKRDYEGYLCSLLLPAESRSSVFALRAFNVELAQVKDSVSEKTIGLMRMQFWKKT
VEDIYCDNPPHQPVAIELWKAVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAEN
TQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGSRRKVFLPMDICMLHG
VSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKK
IQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY

Sequence length

333

Interactions

View interactions

	KEGG		Reactome
	Thermogenesis		Complex I biogenesis

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental regression	developmental regression	rs1224421127	N/A
leigh syndrome	Leigh syndrome	rs762620949	N/A
Mitochondrial Complex Deficiency	Mitochondrial complex 1 deficiency, nuclear type 17	rs137853184, rs768273248, rs1057519084, rs1057519085, rs1057519086, rs765915512	N/A

Show/Hide Unknown Diseases (10)

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.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes (PheCode 250.2), Type 2 diabetes	N/A	N/A	GWAS
Fanconi Syndrome	Fanconi renotubular syndrome 5, primary Fanconi syndrome	N/A	N/A	GenCC
Fatal Mitochondrial Disease	Mitochondrial disease	N/A	N/A	ClinVar
Hypertension	Hypertension (PheCode 401)	N/A	N/A	GWAS
Keratoconus	Keratoconus	N/A	N/A	GWAS
Leigh Syndrome With Leukodystrophy	Leigh syndrome with leukodystrophy	N/A	N/A	GenCC
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	31473137, 35237031, 35699875, 35715361
Breast Neoplasms	Associate	37950222
Cerebral Small Vessel Diseases	Associate	35699875
Leigh Disease	Associate	29531337, 31967322, 33097395, 36675121
MELAS Syndrome	Associate	35699875
Mitochondrial complex I deficiency	Associate	19463981, 29531337

NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6)