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	126328
Gene name	NADH:ubiquinone oxidoreductase subunit A11
Gene symbol	NDUFA11
Synonyms (NCBI Gene)	B14.7CI-B14.7MC1DN14
Chromosome	19
Chromosome location	19p13.3
Summary	This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with s

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199842745	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs863224079	T>C	Pathogenic	Intron variant, splice acceptor variant
rs1057517914	C>T	Likely-pathogenic	Splice donor variant

169

Show/Hide all (169)

miRTarBase ID	miRNA	Experiments	Reference
MIRT441327	hsa-miR-3937	PAR-CLIP	22291592
MIRT441326	hsa-miR-3960	PAR-CLIP	22291592
MIRT441325	hsa-miR-8072	PAR-CLIP	22291592
MIRT441323	hsa-miR-4467	PAR-CLIP	22291592
MIRT451272	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT451271	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT451270	hsa-miR-4476	PAR-CLIP	23592263
MIRT451269	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT451268	hsa-miR-6847-5p	PAR-CLIP	23592263
MIRT451267	hsa-miR-4533	PAR-CLIP	23592263
MIRT451266	hsa-miR-3689d	PAR-CLIP	23592263
MIRT451265	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT451264	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT451263	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT451262	hsa-miR-3650	PAR-CLIP	23592263
MIRT451261	hsa-miR-3657	PAR-CLIP	23592263
MIRT451259	hsa-miR-4669	PAR-CLIP	23592263
MIRT441327	hsa-miR-3937	PAR-CLIP	22100165
MIRT441326	hsa-miR-3960	PAR-CLIP	22100165
MIRT441325	hsa-miR-8072	PAR-CLIP	22100165
MIRT441323	hsa-miR-4467	PAR-CLIP	22100165
MIRT441327	hsa-miR-3937	PAR-CLIP	22100165
MIRT441326	hsa-miR-3960	PAR-CLIP	22100165
MIRT441325	hsa-miR-8072	PAR-CLIP	22100165
MIRT441323	hsa-miR-4467	PAR-CLIP	22100165
MIRT441327	hsa-miR-3937	PAR-CLIP	22291592
MIRT441326	hsa-miR-3960	PAR-CLIP	22291592
MIRT441325	hsa-miR-8072	PAR-CLIP	22291592
MIRT441323	hsa-miR-4467	PAR-CLIP	22291592
MIRT451272	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT451271	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT451270	hsa-miR-4476	PAR-CLIP	23592263
MIRT451269	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT451268	hsa-miR-6847-5p	PAR-CLIP	23592263
MIRT451267	hsa-miR-4533	PAR-CLIP	23592263
MIRT451266	hsa-miR-3689d	PAR-CLIP	23592263
MIRT451265	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT451264	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT451263	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT451262	hsa-miR-3650	PAR-CLIP	23592263
MIRT451261	hsa-miR-3657	PAR-CLIP	23592263
MIRT451259	hsa-miR-4669	PAR-CLIP	23592263
MIRT441327	hsa-miR-3937	PAR-CLIP	22100165
MIRT441326	hsa-miR-3960	PAR-CLIP	22100165
MIRT441325	hsa-miR-8072	PAR-CLIP	22100165
MIRT441323	hsa-miR-4467	PAR-CLIP	22100165
MIRT441327	hsa-miR-3937	PAR-CLIP	22100165
MIRT441326	hsa-miR-3960	PAR-CLIP	22100165
MIRT441325	hsa-miR-8072	PAR-CLIP	22100165
MIRT441323	hsa-miR-4467	PAR-CLIP	22100165
MIRT1178611	hsa-miR-1228	CLIP-seq
MIRT1178612	hsa-miR-1234	CLIP-seq
MIRT1178613	hsa-miR-1245	CLIP-seq
MIRT1178614	hsa-miR-150	CLIP-seq
MIRT1178615	hsa-miR-1909	CLIP-seq
MIRT1178616	hsa-miR-3149	CLIP-seq
MIRT1178617	hsa-miR-361-3p	CLIP-seq
MIRT1178618	hsa-miR-411	CLIP-seq
MIRT1178619	hsa-miR-4446-3p	CLIP-seq
MIRT1178620	hsa-miR-4527	CLIP-seq
MIRT1178621	hsa-miR-4656	CLIP-seq
MIRT1178622	hsa-miR-4715-3p	CLIP-seq
MIRT1178623	hsa-miR-4722-3p	CLIP-seq
MIRT1178624	hsa-miR-4738-3p	CLIP-seq
MIRT1178625	hsa-miR-4763-5p	CLIP-seq
MIRT1178626	hsa-miR-4766-5p	CLIP-seq
MIRT1178627	hsa-miR-550a	CLIP-seq
MIRT1178628	hsa-miR-552	CLIP-seq
MIRT1178629	hsa-miR-568	CLIP-seq
MIRT1178630	hsa-miR-764	CLIP-seq
MIRT1178614	hsa-miR-150	CLIP-seq
MIRT2051712	hsa-miR-1915	CLIP-seq
MIRT2051713	hsa-miR-3135b	CLIP-seq
MIRT2051714	hsa-miR-3652	CLIP-seq
MIRT2051715	hsa-miR-4430	CLIP-seq
MIRT2051716	hsa-miR-4695-3p	CLIP-seq
MIRT2051717	hsa-miR-4713-5p	CLIP-seq
MIRT2051718	hsa-miR-4726-3p	CLIP-seq
MIRT2051719	hsa-miR-532-3p	CLIP-seq
MIRT2280740	hsa-miR-1184	CLIP-seq
MIRT2280741	hsa-miR-1205	CLIP-seq
MIRT2280742	hsa-miR-1299	CLIP-seq
MIRT2280743	hsa-miR-3158-5p	CLIP-seq
MIRT2280744	hsa-miR-378	CLIP-seq
MIRT2280745	hsa-miR-378b	CLIP-seq
MIRT2280746	hsa-miR-378c	CLIP-seq
MIRT2280747	hsa-miR-378d	CLIP-seq
MIRT2280748	hsa-miR-378e	CLIP-seq
MIRT2280749	hsa-miR-378f	CLIP-seq
MIRT2280750	hsa-miR-378h	CLIP-seq
MIRT2280751	hsa-miR-378i	CLIP-seq
MIRT2280752	hsa-miR-422a	CLIP-seq
MIRT2280753	hsa-miR-4638-3p	CLIP-seq
MIRT2280754	hsa-miR-4782-5p	CLIP-seq
MIRT2280755	hsa-miR-516b	CLIP-seq
MIRT2280756	hsa-miR-544	CLIP-seq
MIRT2280757	hsa-miR-642b	CLIP-seq
MIRT2455014	hsa-miR-3151	CLIP-seq
MIRT2455015	hsa-miR-3184	CLIP-seq
MIRT2455016	hsa-miR-3921	CLIP-seq
MIRT2455017	hsa-miR-423-5p	CLIP-seq
MIRT2455018	hsa-miR-4265	CLIP-seq
MIRT2455019	hsa-miR-4296	CLIP-seq
MIRT2455020	hsa-miR-4322	CLIP-seq
MIRT2455021	hsa-miR-4447	CLIP-seq
MIRT2455022	hsa-miR-4472	CLIP-seq
MIRT2455023	hsa-miR-4649-3p	CLIP-seq
MIRT2455024	hsa-miR-4653-5p	CLIP-seq
MIRT2455025	hsa-miR-486-3p	CLIP-seq
MIRT2455026	hsa-miR-491-5p	CLIP-seq
MIRT2455014	hsa-miR-3151	CLIP-seq
MIRT2455015	hsa-miR-3184	CLIP-seq
MIRT2455016	hsa-miR-3921	CLIP-seq
MIRT2455017	hsa-miR-423-5p	CLIP-seq
MIRT2455018	hsa-miR-4265	CLIP-seq
MIRT2455019	hsa-miR-4296	CLIP-seq
MIRT2455020	hsa-miR-4322	CLIP-seq
MIRT2455021	hsa-miR-4447	CLIP-seq
MIRT2455022	hsa-miR-4472	CLIP-seq
MIRT2455023	hsa-miR-4649-3p	CLIP-seq
MIRT2455024	hsa-miR-4653-5p	CLIP-seq
MIRT2455025	hsa-miR-486-3p	CLIP-seq
MIRT2455026	hsa-miR-491-5p	CLIP-seq
MIRT2280740	hsa-miR-1184	CLIP-seq
MIRT2280741	hsa-miR-1205	CLIP-seq
MIRT2280742	hsa-miR-1299	CLIP-seq
MIRT2051713	hsa-miR-3135b	CLIP-seq
MIRT2280743	hsa-miR-3158-5p	CLIP-seq
MIRT2051714	hsa-miR-3652	CLIP-seq
MIRT2280744	hsa-miR-378	CLIP-seq
MIRT2280745	hsa-miR-378b	CLIP-seq
MIRT2280746	hsa-miR-378c	CLIP-seq
MIRT2280747	hsa-miR-378d	CLIP-seq
MIRT2280748	hsa-miR-378e	CLIP-seq
MIRT2280749	hsa-miR-378f	CLIP-seq
MIRT2280750	hsa-miR-378h	CLIP-seq
MIRT2280751	hsa-miR-378i	CLIP-seq
MIRT2280752	hsa-miR-422a	CLIP-seq
MIRT2579232	hsa-miR-4269	CLIP-seq
MIRT2579233	hsa-miR-4281	CLIP-seq
MIRT2051715	hsa-miR-4430	CLIP-seq
MIRT2579234	hsa-miR-4449	CLIP-seq
MIRT2280753	hsa-miR-4638-3p	CLIP-seq
MIRT2280754	hsa-miR-4782-5p	CLIP-seq
MIRT2280755	hsa-miR-516b	CLIP-seq
MIRT2280756	hsa-miR-544	CLIP-seq
MIRT2280740	hsa-miR-1184	CLIP-seq
MIRT2280741	hsa-miR-1205	CLIP-seq
MIRT2280742	hsa-miR-1299	CLIP-seq
MIRT2051713	hsa-miR-3135b	CLIP-seq
MIRT2280743	hsa-miR-3158-5p	CLIP-seq
MIRT2051714	hsa-miR-3652	CLIP-seq
MIRT2280744	hsa-miR-378	CLIP-seq
MIRT2280745	hsa-miR-378b	CLIP-seq
MIRT2280746	hsa-miR-378c	CLIP-seq
MIRT2280747	hsa-miR-378d	CLIP-seq
MIRT2280748	hsa-miR-378e	CLIP-seq
MIRT2280749	hsa-miR-378f	CLIP-seq
MIRT2280750	hsa-miR-378h	CLIP-seq
MIRT2280751	hsa-miR-378i	CLIP-seq
MIRT2280752	hsa-miR-422a	CLIP-seq
MIRT2579232	hsa-miR-4269	CLIP-seq
MIRT2579233	hsa-miR-4281	CLIP-seq
MIRT2051715	hsa-miR-4430	CLIP-seq
MIRT2579234	hsa-miR-4449	CLIP-seq
MIRT2280753	hsa-miR-4638-3p	CLIP-seq
MIRT2280754	hsa-miR-4782-5p	CLIP-seq
MIRT2280755	hsa-miR-516b	CLIP-seq
MIRT2280756	hsa-miR-544	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
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, 27626371
GO:0045271	Component	Respiratory chain complex I	IEA

MIM	HGNC	e!Ensembl
612638	20371	ENSG00000174886

Q86Y39

Protein name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 (Complex I-B14.7) (CI-B14.7) (NADH-ubiquinone oxidoreductase subunit B14.7)

Protein function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat

PDB

5XTC , 5XTD , 5XTH , 5XTI

Family and domains

Sequence

MAPKVFRQYWDIPDGTDCHRKAYSTTSIASVAGLTAAAYRVTLNPPGTFLEGVAKVGQYT
FTAAAVGAVFGLTTCISAHVREKPDDPLNYFLGGCAGGLTLGARTHNYGIGAAACVYFGI
AASLVKMGRLEGWEVFAKPKV

Sequence length

141

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 (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 14	Likely pathogenic; Pathogenic	rs748026968, rs1348957889	RCV001824267 RCV000000544

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	rs138889960	RCV005893525
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs138889960	RCV005893526
Familial cancer of breast	Conflicting classifications of pathogenicity	rs138889960	RCV005893524
Gastric cancer	Benign	rs10432306	RCV005921988
Mitochondrial complex I deficiency	Uncertain significance	rs759857076, rs755637853	RCV000400628 RCV000264047
Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs774174896, rs146562956, rs199842745, rs138889960, rs1056987, rs563822139, rs191571307, rs886054648, rs886054649, rs886054650, rs886054647, rs8108064, rs550697802, rs115530541, rs771648754 View all (8 more)	RCV001330535 RCV001135436 RCV000765475 RCV000382120 RCV000336107 RCV000301439 RCV000321494 RCV000290662 RCV000347902 RCV000297568 RCV000325113 RCV000294085 RCV000351225 RCV000408273 RCV000378538 RCV000386066 RCV001133936 RCV001133935 RCV001135432 RCV001135433 RCV001135434 RCV001135435 RCV001131101
NDUFA11-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs73920081, rs775685917, rs371393774, rs138889960, rs777802121, rs1197158690, rs1425327265, rs765860115, rs575038796	RCV003910981 RCV003941125 RCV003933334 RCV003947634 RCV003917266 RCV003951699 RCV003969549 RCV003969801 RCV003945488
Uterine carcinosarcoma	Benign	rs10432306	RCV005921989

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyloidosis	Associate	35066432
Mitochondrial Diseases	Associate	31116686

NDUFA11 (NADH:ubiquinone oxidoreductase subunit A11)