COX4I1
Summary: Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
cytochrome c oxidase subunit 4I1 | MIM:123864 | Ensembl:ENSG00000131143 | HGNC:HGNC:2265 | PA26781 | 16q24.1 |
Gene Categories:
TRANSPORTERGO terms in COX4I1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IBA | GO:0004129 | cytochrome-c oxidase activity |
MF | IPI | GO:0005515 | protein binding |
CC | IDA | GO:0005634 | nucleus |
CC | HDA | GO:0005739 | mitochondrion |
CC | IDA | GO:0005739 | mitochondrion |
CC | TAS | GO:0005743 | mitochondrial inner membrane |
CC | IBA | GO:0005751 | mitochondrial respiratory chain complex IV |
CC | IMP | GO:0005751 | mitochondrial respiratory chain complex IV |
CC | HDA | GO:0016020 | membrane |
BP | TAS | GO:0006091 | generation of precursor metabolites and energy |
BP | IBA | GO:0006123 | mitochondrial electron transport, cytochrome c to oxygen |
BP | IEA | GO:0007584 | response to nutrient |
BP | IEA | GO:1902600 | proton transmembrane transport |
Gene expression in normal tissue: COX4I1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in COX4I1
Database | Pathway ID | Pathway Des. |
---|---|---|
kegg | hsa00190 | Oxidative phosphorylation - Homo sapiens (human) |
kegg | hsa04260 | Cardiac muscle contraction - Homo sapiens (human) |
kegg | hsa04714 | Thermogenesis - 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) |
wikipathways | WP111 | Electron Transport Chain |
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-212436 | Generic Transcription Pathway |
reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
reactome | R-HSA-5628897 | TP53 Regulates Metabolic Genes |
reactome | R-HSA-611105 | Respiratory electron transport |
reactome | R-HSA-73857 | RNA Polymerase II Transcription |
reactome | R-HSA-74160 | Gene expression (Transcription) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD421 | AZD7762 | 1 |
iGMDRD92 | Trifluoperazine | 1 |
iGMDRD502 | AZD1480 | 1 |
iGMDRD163 | all trans Retinoic Acid | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in COX4I1