Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.7.1.32
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
choline kinase
2.7.1.82
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
ethanolamine kinase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2IG7 | 1.8 | Crystal structure of Human Choline Kinase B |
| 3FEG | 1.302 | Crystal structure of human choline kinase beta in complex with phosphorylated hemicholinium-3 and adenosine nucleotide |
| 3LQ3 | 1.42 | Crystal structure of human choline kinase beta in complex with phosphorylated hemicholinium-3 and adenosine nucleotide |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006657 | CDP-choline pathway |
| Biological Process | GO:0007517 | muscle organ development |
| Biological Process | GO:0006646 | phosphatidylethanolamine biosynthetic process |
| Biological Process | GO:0016310 | phosphorylation |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0004103 | choline kinase activity |
| Molecular Function | GO:0004305 | ethanolamine kinase activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005829 | cytosol |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1483191 | Synthesis of PC | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-1483213 | Synthesis of PE | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000750 | Delayed speech and language development |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001270 | Motor delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001324 | Muscle weakness |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0002465 | Poor speech |
| HP:0002515 | Waddling gait |
| HP:0003198 | Myopathy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003391 | Gowers sign |
| HP:0003560 | Muscular dystrophy |
| HP:0003593 | Infantile onset |
| HP:0003677 | Slowly progressive |
| HP:0008064 | Ichthyosis |
| HP:0010628 | Facial palsy |
| HP:0033686 | Mitochondrial hypertrophy |
| HP:0100297 | Increased endomysial connective tissue |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Approved |
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Medium | Approved |
| appendix | lymphoid tissue | Medium | Approved |
| bone marrow | hematopoietic cells | Medium | Approved |
| breast | glandular cells | Medium | Approved |
| breast | myoepithelial cells | Medium | Approved |
| bronchus | respiratory epithelial cells | Medium | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Medium | Approved |
| cerebellum | cells in granular layer | Low | Approved |
| cerebral cortex | endothelial cells | Low | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cerebral cortex | neuropil | Low | Approved |
| cervix | glandular cells | Medium | Approved |
| cervix | squamous epithelial cells | Medium | Approved |
| colon | endothelial cells | Medium | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | Medium | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | cells in endometrial stroma | Medium | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | cells in endometrial stroma | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Low | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | neuronal cells | Medium | Approved |
| kidney | cells in glomeruli | Medium | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | cholangiocytes | Medium | Approved |
| lung | alveolar cells | Medium | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Medium | Approved |
| lymph node | non-germinal center cells | Medium | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| ovary | follicle cells | Medium | Approved |
| ovary | ovarian stroma cells | Medium | Approved |
| pancreas | exocrine glandular cells | High | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | decidual cells | High | Approved |
| placenta | trophoblastic cells | High | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | keratinocytes | Medium | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | High | Approved |
| soft tissue 1 | peripheral nerve | Low | Approved |
| soft tissue 2 | peripheral nerve | Low | Approved |
| spleen | cells in red pulp | Medium | Approved |
| spleen | cells in white pulp | Medium | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | High | Approved |
| tonsil | germinal center cells | Medium | Approved |
| tonsil | non-germinal center cells | High | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| proximal myopathy with focal depletion of mitochondria | MONDO:0010923 | G72 | chapter6, Diseases of the nervous system | OMIM:600706 | Orphanet:521305 |
| megaconial type congenital muscular dystrophy | MONDO:0011246 | G71 | chapter6, Diseases of the nervous system | OMIM:602541 | Orphanet:280671 |