Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.7.1.24
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with an alcohol group as acceptor;
dephospho-CoA kinase
2.7.7.3
Transferases;
Transferring phosphorus-containing groups;
Nucleotidyltransferases;
pantetheine-phosphate adenylyltransferase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0015937 | coenzyme A biosynthetic process |
| Biological Process | GO:0016310 | phosphorylation |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0004140 | dephospho-CoA kinase activity |
| Molecular Function | GO:0004595 | pantetheine-phosphate adenylyltransferase activity |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005741 | mitochondrial outer membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-196783 | Coenzyme A biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000269 | PubMed:24360804 |
| Mitochondrion matrix | ECO:0000269 | PubMed:24360804 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000340 | Sloping forehead |
| HP:0000347 | Micrognathia |
| HP:0000716 | Depression |
| HP:0000722 | Compulsive behaviors |
| HP:0001249 | Intellectual disability |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001268 | Mental deterioration |
| HP:0001288 | Gait disturbance |
| HP:0001300 | Parkinsonism |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001332 | Dystonia |
| HP:0001522 | Death in infancy |
| HP:0001561 | Polyhydramnios |
| HP:0001761 | Pes cavus |
| HP:0001762 | Talipes equinovarus |
| HP:0001838 | Rocker bottom foot |
| HP:0002059 | Cerebral atrophy |
| HP:0002063 | Rigidity |
| HP:0002067 | Bradykinesia |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002180 | Neurodegeneration |
| HP:0002313 | Spastic paraparesis |
| HP:0002339 | Abnormal caudate nucleus morphology |
| HP:0002355 | Difficulty walking |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0002376 | Developmental regression |
| HP:0002453 | Abnormal globus pallidus morphology |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus |
| HP:0002510 | Spastic tetraplegia |
| HP:0002522 | Areflexia of lower limbs |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003676 | Progressive |
| HP:0003693 | Distal amyotrophy |
| HP:0006872 | Cerebral hypoplasia |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0007002 | Motor axonal neuropathy |
| HP:0010557 | Overlapping fingers |
| HP:0010663 | Abnormality of thalamus morphology |
| HP:0010994 | Abnormal corpus striatum morphology |
| HP:0011451 | Primary microcephaly |
| HP:0011463 | Childhood onset |
| HP:0012048 | Oromandibular dystonia |
| HP:0030051 | Tip-toe gait |
| HP:0031936 | Delayed ability to walk |
| HP:0033329 | Abnormal postural reflex |
| HP:0034197 | Third trimester onset |
| HP:0034198 | Second trimester onset |
| HP:0034392 | Joint contracture |
| HP:0100034 | Motor tics |
| HP:0100543 | Cognitive impairment |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | Low | Approved |
| appendix | glandular cells | Medium | Approved |
| appendix | lymphoid tissue | Low | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| breast | adipocytes | Medium | Approved |
| breast | glandular cells | Low | Approved |
| breast | myoepithelial cells | Medium | Approved |
| bronchus | respiratory epithelial cells | Medium | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Low | Approved |
| cerebellum | Purkinje cells | Medium | Approved |
| cerebellum | cells in granular layer | Low | Approved |
| cerebellum | cells in molecular layer | Low | Approved |
| cerebral cortex | endothelial cells | Low | Approved |
| cerebral cortex | glial cells | Low | Approved |
| cerebral cortex | neuronal cells | 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 | Low | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | cells in endometrial stroma | Low | Approved |
| endometrium 1 | glandular cells | Low | Approved |
| endometrium 2 | cells in endometrial stroma | Low | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | Low | Approved |
| kidney | cells in glomeruli | Low | Approved |
| kidney | cells in tubules | Low | Approved |
| liver | cholangiocytes | Low | Approved |
| liver | hepatocytes | Low | Approved |
| lung | alveolar cells | Low | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Low | Approved |
| lymph node | non-germinal center cells | Low | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Low | Approved |
| ovary | follicle cells | Low | Approved |
| ovary | ovarian stroma cells | Low | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | Low | Approved |
| placenta | decidual cells | Medium | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| prostate | glandular cells | Low | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | Low | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | fibroblasts | 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 | Low | Approved |
| soft tissue 1 | chondrocytes | High | Approved |
| soft tissue 1 | fibroblasts | High | Approved |
| soft tissue 1 | peripheral nerve | Low | Approved |
| soft tissue 2 | fibroblasts | Medium | Approved |
| soft tissue 2 | peripheral nerve | Low | Approved |
| spleen | cells in red pulp | Low | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Low | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | Low | Approved |
| tonsil | non-germinal center cells | Low | Approved |
| tonsil | squamous epithelial cells | Low | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Medium | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| neurodegeneration with brain iron accumulation 6 | MONDO:0014290 | G23 | chapter6, Diseases of the nervous system | OMIM:615643 | Orphanet:397725 |
| pontocerebellar hypoplasia, type 12 | MONDO:0032643 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:618266 | Orphanet:611256 |