NDUFB11
Summary: The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| NADH:ubiquinone oxidoreductase subunit B11 | MIM:300403 | Ensembl:ENSG00000147123 | HGNC:HGNC:20372 | PA134924203 | Xp11.3 |
GO terms in NDUFB11
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IMP | GO:0032981 | mitochondrial respiratory chain complex I assembly |
| BP | TAS | GO:0032981 | mitochondrial respiratory chain complex I assembly |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005743 | mitochondrial inner membrane |
| CC | IDA | GO:0005747 | mitochondrial respiratory chain complex I |
| CC | IEA | GO:0016021 | integral component of membrane |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: NDUFB11
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NDUFB11
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1428517 | The citric acid (TCA) cycle and respiratory electron transport |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-163200 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
| reactome | R-HSA-611105 | Respiratory electron transport |
| reactome | R-HSA-6799198 | Complex I biogenesis |
| kegg | hsa00190 | Oxidative phosphorylation - Homo sapiens (human) |
| kegg | hsa04714 | Thermogenesis - Homo sapiens (human) |
| kegg | hsa04723 | Retrograde endocannabinoid signaling - Homo sapiens (human) |
| kegg | hsa04932 | Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| kegg | hsa05012 | Parkinson,s disease - Homo sapiens (human) |
| kegg | hsa05016 | Huntington,s disease - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NDUFB11
CLASSFICATION
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