Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.7.1.107
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
diacylglycerol kinase (ATP)
2.7.1.138
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
ceramide kinase
2.7.1.94
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
acylglycerol kinase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 7CGP | 3.7 | Cryo-EM structure of the human mitochondrial translocase TIM22 complex at 3.7 angstrom. |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0046513 | ceramide biosynthetic process |
| Biological Process | GO:0046486 | glycerolipid metabolic process |
| Biological Process | GO:0045039 | protein insertion into mitochondrial inner membrane |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0047620 | acylglycerol kinase activity |
| Molecular Function | GO:0001729 | ceramide kinase activity |
| Molecular Function | GO:0004143 | diacylglycerol kinase activity |
| Molecular Function | GO:0102773 | dihydroceramide kinase activity |
| Cellular Component | GO:0042721 | TIM22 mitochondrial import inner membrane insertion complex |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0043231 | intracellular membrane-bounded organelle |
| Cellular Component | GO:0005743 | mitochondrial inner membrane |
| Cellular Component | GO:0005758 | mitochondrial intermembrane space |
| Cellular Component | GO:0031966 | mitochondrial membrane |
| Cellular Component | GO:0005741 | mitochondrial outer membrane |
| Cellular Component | GO:0005739 | mitochondrion |
| InterPro
|
InterPro name |
|---|---|
| IPR001206 | Diacylglycerol kinase, catalytic domain |
| IPR016064 | NAD kinase/diacylglycerol kinase-like domain superfamily |
| IPR017438 | Inorganic polyphosphate/ATP-NAD kinase, N-terminal |
| IPR045579 | Acylglycerol kinase, C-terminal |
| Pfam
|
Pfam name |
|---|---|
| PF00781 | Diacylglycerol kinase catalytic domain |
| PF19712 | Acylglycerol kinase C-terminal |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1483206 | Glycerophospholipid biosynthesis | Internal node | R-HSA-1430728 | Metabolism |
| R-HSA-6802952 | Signaling by BRAF and RAF1 fusions | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion inner membrane | ECO:0000269 | PubMed:15939762 |
| Mitochondrion inner membrane | ECO:0000269 | PubMed:16269826 |
| Mitochondrion inner membrane | ECO:0000269 | PubMed:28712724 |
| Mitochondrion inner membrane | ECO:0000269 | PubMed:28712726 |
| Mitochondrion intermembrane space | ECO:0000269 | PubMed:28712724 |
| Mitochondrion intermembrane space | ECO:0000269 | PubMed:28712726 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000486 | Strabismus |
| HP:0000501 | Glaucoma |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000518 | Cataract |
| HP:0000519 | Developmental cataract |
| HP:0000545 | Myopia |
| HP:0000639 | Nystagmus |
| HP:0000938 | Osteopenia |
| HP:0001131 | Corneal dystrophy |
| HP:0001252 | Hypotonia |
| HP:0001268 | Mental deterioration |
| HP:0001270 | Motor delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001324 | Muscle weakness |
| HP:0001510 | Growth delay |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001645 | Sudden cardiac death |
| HP:0001695 | Cardiac arrest |
| HP:0001873 | Thrombocytopenia |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002093 | Respiratory insufficiency |
| HP:0002151 | Increased serum lactate |
| HP:0003128 | Lactic acidosis |
| HP:0003198 | Myopathy |
| HP:0003324 | Generalized muscle weakness |
| HP:0003388 | Easy fatigability |
| HP:0003535 | 3-Methylglutaconic aciduria |
| HP:0003546 | Exercise intolerance |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0003737 | Mitochondrial myopathy |
| HP:0004901 | Exercise-induced lactic acidemia |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0009141 | Depletion of mitochondrial DNA in muscle tissue |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0011924 | Decreased activity of mitochondrial complex III |
| HP:0012378 | Fatigue |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| sengers syndrome | MONDO:0008922 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:212350 | Orphanet:1369 |
| cataract 38 | MONDO:0013859 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:614691 | |
| total early-onset cataract | MONDO:0021548 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98994 |