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Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14 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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612638 20371 ENSG00000174886
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Oxidative phosphorylation Respiratory electron transport
Metabolic pathways Complex I biogenesis
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mitochondrial complex I deficiency, nuclear type 14 Likely pathogenic; Pathogenic rs748026968, rs1348957889 RCV001824267
RCV000000544
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Show/Hide Unknown Diseases (10)
Phenotype Name Clinical Significance Source Reference Evidence Score
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
18306244, 22644603
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (26)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
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