Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.3.1.137
Transferases;
Acyltransferases;
Transferring groups other than aminoacyl groups;
carnitine O-octanoyltransferase
2.3.1.7
Transferases;
Acyltransferases;
Transferring groups other than aminoacyl groups;
carnitine O-acetyltransferase
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0019254 | carnitine metabolic process, CoA-linked |
| Biological Process | GO:0033540 | fatty acid beta-oxidation using acyl-CoA oxidase |
| Biological Process | GO:0051791 | medium-chain fatty acid metabolic process |
| Biological Process | GO:0046459 | short-chain fatty acid metabolic process |
| Molecular Function | GO:0003997 | acyl-CoA oxidase activity |
| Molecular Function | GO:0004092 | carnitine O-acetyltransferase activity |
| Molecular Function | GO:0008458 | carnitine O-octanoyltransferase activity |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005783 | endoplasmic reticulum |
| Cellular Component | GO:0005743 | mitochondrial inner membrane |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005782 | peroxisomal matrix |
| Cellular Component | GO:0005777 | peroxisome |
| InterPro
|
InterPro name |
|---|---|
| IPR000542 | Acyltransferase ChoActase/COT/CPT |
| IPR023213 | Chloramphenicol acetyltransferase-like domain superfamily |
| IPR039551 | Choline/carnitine acyltransferase domain |
| IPR042231 | Choline/Carnitine o-acyltransferase, domain 2 |
| Pfam
|
Pfam name |
|---|---|
| PF00755 | Choline/Carnitine o-acyltransferase |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-389887 | Beta-oxidation of pristanoyl-CoA | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-9033241 | Peroxisomal protein import | Internal node | R-HSA-9609507 | Protein localization |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Endoplasmic reticulum | ECO:0000305 | |
| Mitochondrion | ECO:0000305 | PubMed:23485643 |
| Mitochondrion inner membrane | ECO:0000305 | |
| Peroxisome | ECO:0000305 | PubMed:23485643 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000750 | Delayed speech and language development |
| HP:0000763 | Sensory neuropathy |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001310 | Dysmetria |
| HP:0001337 | Tremor |
| HP:0001347 | Hyperreflexia |
| HP:0002151 | Increased serum lactate |
| HP:0002317 | Unsteady gait |
| HP:0002505 | Loss of ambulation |
| HP:0003676 | Progressive |
| HP:0011463 | Childhood onset |
| HP:0012675 | Iron accumulation in brain |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Low | Enhanced |
| appendix | endocrine cells | Low | Enhanced |
| bone marrow | hematopoietic cells | Medium | Enhanced |
| breast | glandular cells | Low | Enhanced |
| bronchus | ciliated cells (cell body) | High | Enhanced |
| bronchus | ciliated cells (cilia axoneme) | High | Enhanced |
| bronchus | ciliated cells (tip of cilia) | High | Enhanced |
| caudate | glial cells | Low | Enhanced |
| caudate | neuronal cells | Medium | Enhanced |
| cerebellum | Purkinje cells | Medium | Enhanced |
| cerebellum | cells in granular layer | Medium | Enhanced |
| cerebellum | cells in molecular layer | Medium | Enhanced |
| cerebral cortex | neuronal cells | Medium | Enhanced |
| cerebral cortex | neuropil | Low | Enhanced |
| cervix | squamous epithelial cells | Low | Enhanced |
| colon | endocrine cells | Medium | Enhanced |
| colon | enterocytes | Medium | Enhanced |
| colon | mucosal lymphoid cells | Medium | Enhanced |
| colon | peripheral nerve/ganglion | Low | Enhanced |
| duodenum | endocrine cells | Medium | Enhanced |
| duodenum | enterocytes | Medium | Enhanced |
| duodenum | glands of Brunner | Medium | Enhanced |
| duodenum | paneth cells | Medium | Enhanced |
| endometrium 1 | glandular cells | Low | Enhanced |
| epididymis | glandular cells | Low | Enhanced |
| fallopian tube | ciliated cells (ciliary rootlets) | Low | Enhanced |
| fallopian tube | ciliated cells (tip of cilia) | High | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| heart muscle | cardiomyocytes | Medium | Enhanced |
| hippocampus | glial cells | Low | Enhanced |
| hippocampus | neuronal cells | Medium | Enhanced |
| kidney | collecting ducts | Medium | Enhanced |
| kidney | distal tubules | Medium | Enhanced |
| kidney | proximal tubules (cell body) | Medium | Enhanced |
| lung | macrophages | Low | Enhanced |
| nasopharynx | basal cells | Medium | Enhanced |
| nasopharynx | ciliated cells (cell body) | Medium | Enhanced |
| nasopharynx | ciliated cells (cilia axoneme) | High | Enhanced |
| nasopharynx | ciliated cells (tip of cilia) | High | Enhanced |
| nasopharynx | goblet cells | Medium | Enhanced |
| oral mucosa | squamous epithelial cells | Low | Enhanced |
| ovary | follicle cells | Low | Enhanced |
| pancreas | exocrine glandular cells | Medium | Enhanced |
| parathyroid gland | glandular cells | High | Enhanced |
| placenta | decidual cells | Medium | Enhanced |
| placenta | trophoblastic cells | Medium | Enhanced |
| prostate | glandular cells | Low | Enhanced |
| rectum | endocrine cells | Low | Enhanced |
| rectum | enterocytes | Medium | Enhanced |
| rectum | goblet cells | Low | Enhanced |
| rectum | mucosal lymphoid cells | Medium | Enhanced |
| rectum | peripheral nerve/ganglion | High | Enhanced |
| salivary gland | glandular cells | Low | Enhanced |
| seminal vesicle | glandular cells | Low | Enhanced |
| skeletal muscle | myocytes | Low | Enhanced |
| skin 2 | lymphocytes | High | Enhanced |
| skin 2 | sebaceous glands | Medium | Enhanced |
| small intestine | endocrine cells | Medium | Enhanced |
| small intestine | enterocytes | Medium | Enhanced |
| soft tissue 2 | peripheral nerve | Medium | Enhanced |
| spleen | cells in red pulp | Low | Enhanced |
| stomach 1 | glandular cells | Medium | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | Leydig cells | Low | Enhanced |
| testis | pachytene spermatocytes | High | Enhanced |
| testis | round or early spermatids | Low | Enhanced |
| thyroid gland | glandular cells | Medium | Enhanced |
| tonsil | squamous epithelial cells | Low | Enhanced |
| urinary bladder | urothelial cells | Medium | Enhanced |
| vagina | squamous epithelial cells | Medium | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| neurodegeneration with brain iron accumulation 8 | MONDO:0054764 | G23 | chapter6, Diseases of the nervous system | OMIM:617917 |