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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDUFA11-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyloidosis	Amyloidosis	Pubtator	35066432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	18306244, 22644603		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	18306244, 27604308		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31116686	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NDUFA11 (NADH:ubiquinone oxidoreductase subunit A11)