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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4700
Gene name	NADH:ubiquinone oxidoreductase subunit A6
Gene symbol	NDUFA6
Synonyms (NCBI Gene)	B14CI-B14LYRM6MC1DN33NADHB14
Chromosome	22
Chromosome location	22q13.2
Summary	This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme o

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SNP ID	Visualize variation	Clinical significance	Consequence
rs750830935	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs758833609	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs763006208	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs781099275	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569463838	CT>-	Pathogenic	Coding sequence variant, frameshift variant

194

Show/Hide all (194)

miRTarBase ID	miRNA	Experiments	Reference
MIRT549542	hsa-miR-3174	PAR-CLIP	20371350
MIRT549541	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT549540	hsa-miR-591	PAR-CLIP	20371350
MIRT549539	hsa-miR-1301-5p	PAR-CLIP	20371350
MIRT549538	hsa-miR-6502-5p	PAR-CLIP	20371350
MIRT549537	hsa-miR-921	PAR-CLIP	20371350
MIRT549536	hsa-miR-568	PAR-CLIP	20371350
MIRT549535	hsa-miR-218-5p	PAR-CLIP	20371350
MIRT549534	hsa-miR-2113	PAR-CLIP	20371350
MIRT549542	hsa-miR-3174	PAR-CLIP	21572407
MIRT549541	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT549540	hsa-miR-591	PAR-CLIP	21572407
MIRT549539	hsa-miR-1301-5p	PAR-CLIP	21572407
MIRT549538	hsa-miR-6502-5p	PAR-CLIP	21572407
MIRT549537	hsa-miR-921	PAR-CLIP	21572407
MIRT549536	hsa-miR-568	PAR-CLIP	21572407
MIRT549535	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT549534	hsa-miR-2113	PAR-CLIP	21572407
MIRT549542	hsa-miR-3174	PAR-CLIP	20371350
MIRT549541	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT549540	hsa-miR-591	PAR-CLIP	20371350
MIRT549539	hsa-miR-1301-5p	PAR-CLIP	20371350
MIRT549538	hsa-miR-6502-5p	PAR-CLIP	20371350
MIRT549537	hsa-miR-921	PAR-CLIP	20371350
MIRT549536	hsa-miR-568	PAR-CLIP	20371350
MIRT549535	hsa-miR-218-5p	PAR-CLIP	20371350
MIRT549534	hsa-miR-2113	PAR-CLIP	20371350
MIRT549542	hsa-miR-3174	PAR-CLIP	21572407
MIRT549541	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT549540	hsa-miR-591	PAR-CLIP	21572407
MIRT549539	hsa-miR-1301-5p	PAR-CLIP	21572407
MIRT549538	hsa-miR-6502-5p	PAR-CLIP	21572407
MIRT549537	hsa-miR-921	PAR-CLIP	21572407
MIRT549536	hsa-miR-568	PAR-CLIP	21572407
MIRT549535	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT549534	hsa-miR-2113	PAR-CLIP	21572407
MIRT1178831	hsa-miR-1178	CLIP-seq
MIRT1178832	hsa-miR-218	CLIP-seq
MIRT1178833	hsa-miR-298	CLIP-seq
MIRT1178834	hsa-miR-3156-3p	CLIP-seq
MIRT1178835	hsa-miR-3158-5p	CLIP-seq
MIRT1178836	hsa-miR-3609	CLIP-seq
MIRT1178837	hsa-miR-3647-3p	CLIP-seq
MIRT1178838	hsa-miR-4252	CLIP-seq
MIRT1178839	hsa-miR-4269	CLIP-seq
MIRT1178840	hsa-miR-4301	CLIP-seq
MIRT1178841	hsa-miR-4514	CLIP-seq
MIRT1178842	hsa-miR-4692	CLIP-seq
MIRT1178843	hsa-miR-4727-5p	CLIP-seq
MIRT1178844	hsa-miR-4733-3p	CLIP-seq
MIRT1178845	hsa-miR-4742-5p	CLIP-seq
MIRT1178846	hsa-miR-4769-3p	CLIP-seq
MIRT1178847	hsa-miR-4778-5p	CLIP-seq
MIRT1178848	hsa-miR-485-5p	CLIP-seq
MIRT1178849	hsa-miR-520g	CLIP-seq
MIRT1178850	hsa-miR-520h	CLIP-seq
MIRT1178851	hsa-miR-548ah	CLIP-seq
MIRT1178852	hsa-miR-583	CLIP-seq
MIRT1178853	hsa-miR-659	CLIP-seq
MIRT2051746	hsa-miR-4476	CLIP-seq
MIRT2051747	hsa-miR-4670-3p	CLIP-seq
MIRT2051748	hsa-miR-4775	CLIP-seq
MIRT2051749	hsa-miR-579	CLIP-seq
MIRT2280847	hsa-miR-3120-3p	CLIP-seq
MIRT2280848	hsa-miR-3591-3p	CLIP-seq
MIRT2280849	hsa-miR-4645-3p	CLIP-seq
MIRT1178844	hsa-miR-4733-3p	CLIP-seq
MIRT1178847	hsa-miR-4778-5p	CLIP-seq
MIRT2280850	hsa-miR-545	CLIP-seq
MIRT2280851	hsa-miR-649	CLIP-seq
MIRT1178831	hsa-miR-1178	CLIP-seq
MIRT2579259	hsa-miR-125a-3p	CLIP-seq
MIRT2579260	hsa-miR-146b-3p	CLIP-seq
MIRT2579261	hsa-miR-2117	CLIP-seq
MIRT1178833	hsa-miR-298	CLIP-seq
MIRT2579262	hsa-miR-3117-5p	CLIP-seq
MIRT2280847	hsa-miR-3120-3p	CLIP-seq
MIRT2579263	hsa-miR-3133	CLIP-seq
MIRT2579264	hsa-miR-3153	CLIP-seq
MIRT1178834	hsa-miR-3156-3p	CLIP-seq
MIRT1178835	hsa-miR-3158-5p	CLIP-seq
MIRT2579265	hsa-miR-3173-5p	CLIP-seq
MIRT2579266	hsa-miR-323-3p	CLIP-seq
MIRT2280848	hsa-miR-3591-3p	CLIP-seq
MIRT2579267	hsa-miR-3616-5p	CLIP-seq
MIRT1178837	hsa-miR-3647-3p	CLIP-seq
MIRT2579268	hsa-miR-3647-5p	CLIP-seq
MIRT2579269	hsa-miR-3667-3p	CLIP-seq
MIRT2579270	hsa-miR-3921	CLIP-seq
MIRT2579271	hsa-miR-4251	CLIP-seq
MIRT1178838	hsa-miR-4252	CLIP-seq
MIRT1178839	hsa-miR-4269	CLIP-seq
MIRT2579272	hsa-miR-4273	CLIP-seq
MIRT1178840	hsa-miR-4301	CLIP-seq
MIRT2579273	hsa-miR-4329	CLIP-seq
MIRT2051746	hsa-miR-4476	CLIP-seq
MIRT2579274	hsa-miR-4487	CLIP-seq
MIRT2579275	hsa-miR-4489	CLIP-seq
MIRT1178841	hsa-miR-4514	CLIP-seq
MIRT2280849	hsa-miR-4645-3p	CLIP-seq
MIRT2579276	hsa-miR-4652-3p	CLIP-seq
MIRT2579277	hsa-miR-4653-5p	CLIP-seq
MIRT2051747	hsa-miR-4670-3p	CLIP-seq
MIRT2579278	hsa-miR-4688	CLIP-seq
MIRT1178842	hsa-miR-4692	CLIP-seq
MIRT2579279	hsa-miR-4708-3p	CLIP-seq
MIRT1178844	hsa-miR-4733-3p	CLIP-seq
MIRT2579280	hsa-miR-4735-5p	CLIP-seq
MIRT1178845	hsa-miR-4742-5p	CLIP-seq
MIRT2579281	hsa-miR-4757-5p	CLIP-seq
MIRT2579282	hsa-miR-4760-3p	CLIP-seq
MIRT2579283	hsa-miR-4760-5p	CLIP-seq
MIRT2579284	hsa-miR-4773	CLIP-seq
MIRT2051748	hsa-miR-4775	CLIP-seq
MIRT2579285	hsa-miR-4794	CLIP-seq
MIRT2579286	hsa-miR-4795-5p	CLIP-seq
MIRT1178848	hsa-miR-485-5p	CLIP-seq
MIRT2579287	hsa-miR-498	CLIP-seq
MIRT2579288	hsa-miR-539	CLIP-seq
MIRT2280850	hsa-miR-545	CLIP-seq
MIRT2579289	hsa-miR-550a	CLIP-seq
MIRT2579290	hsa-miR-552	CLIP-seq
MIRT2579291	hsa-miR-573	CLIP-seq
MIRT2579292	hsa-miR-577	CLIP-seq
MIRT1178852	hsa-miR-583	CLIP-seq
MIRT2579293	hsa-miR-590-3p	CLIP-seq
MIRT1178853	hsa-miR-659	CLIP-seq
MIRT2579294	hsa-miR-760	CLIP-seq
MIRT2579295	hsa-miR-874	CLIP-seq
MIRT1178831	hsa-miR-1178	CLIP-seq
MIRT2579259	hsa-miR-125a-3p	CLIP-seq
MIRT2579260	hsa-miR-146b-3p	CLIP-seq
MIRT2579261	hsa-miR-2117	CLIP-seq
MIRT2686079	hsa-miR-2277-3p	CLIP-seq
MIRT1178833	hsa-miR-298	CLIP-seq
MIRT2579262	hsa-miR-3117-5p	CLIP-seq
MIRT2280847	hsa-miR-3120-3p	CLIP-seq
MIRT2579263	hsa-miR-3133	CLIP-seq
MIRT2579264	hsa-miR-3153	CLIP-seq
MIRT1178834	hsa-miR-3156-3p	CLIP-seq
MIRT1178835	hsa-miR-3158-5p	CLIP-seq
MIRT2579265	hsa-miR-3173-5p	CLIP-seq
MIRT2579266	hsa-miR-323-3p	CLIP-seq
MIRT2280848	hsa-miR-3591-3p	CLIP-seq
MIRT2579267	hsa-miR-3616-5p	CLIP-seq
MIRT1178837	hsa-miR-3647-3p	CLIP-seq
MIRT2579268	hsa-miR-3647-5p	CLIP-seq
MIRT2579269	hsa-miR-3667-3p	CLIP-seq
MIRT2579270	hsa-miR-3921	CLIP-seq
MIRT2579271	hsa-miR-4251	CLIP-seq
MIRT1178838	hsa-miR-4252	CLIP-seq
MIRT1178839	hsa-miR-4269	CLIP-seq
MIRT2579272	hsa-miR-4273	CLIP-seq
MIRT1178840	hsa-miR-4301	CLIP-seq
MIRT2579273	hsa-miR-4329	CLIP-seq
MIRT2686080	hsa-miR-4473	CLIP-seq
MIRT2051746	hsa-miR-4476	CLIP-seq
MIRT2579274	hsa-miR-4487	CLIP-seq
MIRT2579275	hsa-miR-4489	CLIP-seq
MIRT2686081	hsa-miR-450a	CLIP-seq
MIRT1178841	hsa-miR-4514	CLIP-seq
MIRT2280849	hsa-miR-4645-3p	CLIP-seq
MIRT2579276	hsa-miR-4652-3p	CLIP-seq
MIRT2579277	hsa-miR-4653-5p	CLIP-seq
MIRT2686082	hsa-miR-4671-3p	CLIP-seq
MIRT2579278	hsa-miR-4688	CLIP-seq
MIRT1178842	hsa-miR-4692	CLIP-seq
MIRT2579279	hsa-miR-4708-3p	CLIP-seq
MIRT2686083	hsa-miR-4732-3p	CLIP-seq
MIRT1178844	hsa-miR-4733-3p	CLIP-seq
MIRT2579280	hsa-miR-4735-5p	CLIP-seq
MIRT1178845	hsa-miR-4742-5p	CLIP-seq
MIRT2579281	hsa-miR-4757-5p	CLIP-seq
MIRT2579282	hsa-miR-4760-3p	CLIP-seq
MIRT2579283	hsa-miR-4760-5p	CLIP-seq
MIRT2579284	hsa-miR-4773	CLIP-seq
MIRT2051748	hsa-miR-4775	CLIP-seq
MIRT2579285	hsa-miR-4794	CLIP-seq
MIRT2579286	hsa-miR-4795-5p	CLIP-seq
MIRT1178848	hsa-miR-485-5p	CLIP-seq
MIRT2579287	hsa-miR-498	CLIP-seq
MIRT2686084	hsa-miR-512-3p	CLIP-seq
MIRT2686085	hsa-miR-520f	CLIP-seq
MIRT2579288	hsa-miR-539	CLIP-seq
MIRT2280850	hsa-miR-545	CLIP-seq
MIRT2579289	hsa-miR-550a	CLIP-seq
MIRT2579290	hsa-miR-552	CLIP-seq
MIRT2579291	hsa-miR-573	CLIP-seq
MIRT2579292	hsa-miR-577	CLIP-seq
MIRT1178852	hsa-miR-583	CLIP-seq
MIRT2579293	hsa-miR-590-3p	CLIP-seq
MIRT1178853	hsa-miR-659	CLIP-seq
MIRT2579294	hsa-miR-760	CLIP-seq
MIRT2579295	hsa-miR-874	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	TAS	9345899
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	17209039
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	30245030
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891, 17209039, 27626371
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	NAS	9878551
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
602138	7690	ENSG00000184983

P56556

Protein name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 (Complex I-B14) (CI-B14) (LYR motif-containing protein 6) (NADH-ubiquinone oxidoreductase B14 subunit)

Protein function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Required for proper complex I assembly (PubMed:30245030). Complex I functions in the transfer of

PDB

5XTB , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05347	Complex1_LYR	30 → 92	Complex 1 protein (LYR family)	Family

Sequence

MAGSGVRQATSTASTFVKPIFSRDMNEAKRRVRELYRAWYREVPNTVHQFQLDITVKMGR
DKVREMFMKNAHVTDPRVVDLLVIKGKIELEETIKVWKQRTHVMRFFHETEAPRPKDFLS
KFYVGHDP

Sequence length

128

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Thermogenesis Retrograde endocannabinoid signaling Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy		Respiratory electron transport Complex I biogenesis

Show/Hide Causal Diseases (3)

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 33	Pathogenic; Likely pathogenic	rs1569463838, rs758833609, rs750830935, rs1023075742, rs781099275, rs763006208	RCV000709999 RCV000709998 RCV000709997 RCV000710000 RCV000710002 RCV000710001
Mitochondrial disease	Pathogenic; Likely pathogenic	rs1569463838, rs758833609, rs750830935, rs1023075742, rs781099275, rs763006208	RCV000680374 RCV000680372 RCV000680371 RCV000680370 RCV000680375 RCV000680373
NDUFA6-related disorder	Likely pathogenic	rs763006208	RCV004758045

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Associate	18187875, 3001309
Diabetes Mellitus Type 1	Stimulate	31127057
Disease	Associate	4352462
Hemochromatosis	Associate	3475981
HIV Infections	Associate	24797997
IgA Deficiency	Associate	19052350
Infections	Associate	8709196
Inflammation	Inhibit	18704168
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	12879429
Lung Neoplasms	Associate	29129073
Mitochondrial complex I deficiency	Associate	30245030
Multiple Myeloma	Associate	36551283
Neonatal hemochromatosis	Associate	3475981
Neoplasms	Associate	29129073
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	40508101
Thyroid Neoplasms	Associate	32377223
Tuberculosis	Associate	15009432

NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6)