Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.8.1.12
Transferases;
Transferring sulfur-containing groups;
Sulfurtransferases;
molybdopterin synthase
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006777 | Mo-molybdopterin cofactor biosynthetic process |
| Biological Process | GO:0032324 | molybdopterin cofactor biosynthetic process |
| Molecular Function | GO:0030366 | molybdopterin synthase activity |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0019008 | molybdopterin synthase complex |
| Cellular Component | GO:0016607 | nuclear speck |
| Cellular Component | GO:0005654 | nucleoplasm |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-947581 | Molybdenum cofactor biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm, cytosol | ECO:0000255 | PubMed:15073332 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000276 | Long face |
| HP:0000293 | Full cheeks |
| HP:0000316 | Hypertelorism |
| HP:0000343 | Long philtrum |
| HP:0000639 | Nystagmus |
| HP:0000737 | Irritability |
| HP:0000804 | Xanthine nephrolithiasis |
| HP:0001083 | Ectopia lentis |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001276 | Hypertonia |
| HP:0001510 | Growth delay |
| HP:0002007 | Frontal bossing |
| HP:0002059 | Cerebral atrophy |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002171 | Gliosis |
| HP:0002179 | Opisthotonus |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0002510 | Spastic tetraplegia |
| HP:0003166 | Increased urinary taurine |
| HP:0003196 | Short nose |
| HP:0003447 | Axonal loss |
| HP:0003537 | Hypouricemia |
| HP:0003570 | Molybdenum cofactor deficiency |
| HP:0003623 | Neonatal onset |
| HP:0003676 | Progressive |
| HP:0003739 | Myoclonic spasms |
| HP:0003811 | Neonatal death |
| HP:0010934 | Xanthinuria |
| HP:0011096 | Peripheral demyelination |
| HP:0011814 | Increased urinary hypoxanthine |
| HP:0011935 | Decreased urinary urate |
| HP:0011942 | Increased urinary sulfite |
| HP:0011968 | Feeding difficulties |
| HP:0012019 | Lens luxation |
| HP:0012471 | Thick vermilion border |
| HP:0033725 | Thin corpus callosum |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | High | Approved |
| appendix | glandular 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 | Purkinje cells | Medium | Approved |
| cerebellum | cells in granular layer | Medium | Approved |
| cerebellum | cells in molecular layer | Low | Approved |
| cerebral cortex | endothelial cells | Medium | Approved |
| cerebral cortex | glial cells | Medium | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cerebral cortex | neuropil | Medium | Approved |
| cervix | glandular cells | High | 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 | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | High | 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 | High | Approved |
| liver | cholangiocytes | Medium | Approved |
| liver | hepatocytes | High | Approved |
| lung | alveolar cells | Medium | Approved |
| lung | macrophages | Medium | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| ovary | ovarian stroma cells | Low | Approved |
| pancreas | exocrine glandular cells | High | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | High | Approved |
| placenta | trophoblastic cells | Low | 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 | Low | Approved |
| skin 1 | Langerhans | Low | 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 | Medium | Approved |
| soft tissue 1 | peripheral nerve | Medium | Approved |
| spleen | cells in red pulp | Low | Approved |
| spleen | cells in white pulp | Medium | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | High | 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
|
|---|---|---|---|---|---|
| sulfite oxidase deficiency due to molybdenum cofactor deficiency type b | MONDO:0009644 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:252160 | Orphanet:308393 |