Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.10.1.1
Transferases;
Transferring molybdenum- or tungsten-containing groups;
Molybdenumtransferases or tungstentransferases with sulfide groups as acceptors;
molybdopterin molybdotransferase
2.7.7.75
Transferases;
Transferring phosphorus-containing groups;
Nucleotidyltransferases;
molybdopterin adenylyltransferase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1JLJ | 1.6 | 1.6 Angstrom crystal structure of the human neuroreceptor anchoring and molybdenum cofactor biosynthesis protein gephyrin |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006777 | Mo-molybdopterin cofactor biosynthetic process |
| Biological Process | GO:0007529 | establishment of synaptic specificity at neuromuscular junction |
| Biological Process | GO:0097112 | gamma-aminobutyric acid receptor clustering |
| Biological Process | GO:0072579 | glycine receptor clustering |
| Biological Process | GO:0018315 | molybdenum incorporation into molybdenum-molybdopterin complex |
| Biological Process | GO:0032324 | molybdopterin cofactor biosynthetic process |
| Biological Process | GO:0098970 | postsynaptic neurotransmitter receptor diffusion trapping |
| Biological Process | GO:0010038 | response to metal ion |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0046872 | metal ion binding |
| Molecular Function | GO:0061598 | molybdopterin adenylyltransferase activity |
| Molecular Function | GO:0043546 | molybdopterin cofactor binding |
| Molecular Function | GO:0061599 | molybdopterin molybdotransferase activity |
| Molecular Function | GO:0008940 | nitrate reductase activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005856 | cytoskeleton |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0030425 | dendrite |
| Cellular Component | GO:0005886 | plasma membrane |
| Cellular Component | GO:0014069 | postsynaptic density |
| Cellular Component | GO:0045211 | postsynaptic membrane |
| Cellular Component | GO:0099572 | postsynaptic specialization |
| Cellular Component | GO:0099634 | postsynaptic specialization membrane |
| Cellular Component | GO:0097060 | synaptic membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR001453 | MoaB/Mog domain |
| IPR005110 | MoeA, N-terminal and linker domain |
| IPR005111 | MoeA, C-terminal, domain IV |
| IPR008284 | Molybdenum cofactor biosynthesis, conserved site |
| IPR036135 | MoeA, N-terminal and linker domain superfamily |
| IPR036425 | MoaB/Mog-like domain superfamily |
| IPR036688 | MoeA, C-terminal, domain IV superfamily |
| IPR038987 | Molybdopterin biosynthesis protein MoeA-like |
| Pfam
|
Pfam name |
|---|---|
| PF00994 | Probable molybdopterin binding domain |
| PF03453 | MoeA N-terminal region (domain I and II) |
| PF03454 | MoeA C-terminal region (domain IV) |
| 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 |
|---|---|---|
| Cell membrane | ECO:0000250 | |
| Cell projection, dendrite | ECO:0000269 | PubMed:26613940 |
| Cytoplasm, cytoskeleton | ECO:0000250 | |
| Cytoplasm, cytosol | ECO:0000269 | PubMed:25025157 |
| Postsynaptic cell membrane | ECO:0000269 | PubMed:25025157 |
| Postsynaptic cell membrane | ECO:0000269 | PubMed:26613940 |
| Postsynaptic density | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000817 | Reduced eye contact |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| HP:0001276 | Hypertonia |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001336 | Myoclonus |
| HP:0001347 | Hyperreflexia |
| HP:0001373 | Joint dislocation |
| HP:0001387 | Joint stiffness |
| HP:0001537 | Umbilical hernia |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002036 | Hiatus hernia |
| HP:0002063 | Rigidity |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002104 | Apnea |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002126 | Polymicrogyria |
| HP:0002197 | Generalized-onset seizure |
| HP:0002267 | Exaggerated startle response |
| HP:0002359 | Frequent falls |
| HP:0002360 | Sleep disturbance |
| HP:0002375 | Hypokinesia |
| HP:0002380 | Fasciculations |
| HP:0002421 | Poor head control |
| HP:0002509 | Limb hypertonia |
| HP:0002827 | Hip dislocation |
| HP:0002835 | Aspiration |
| HP:0003166 | Increased urinary taurine |
| HP:0003537 | Hypouricemia |
| HP:0003552 | Muscle stiffness |
| HP:0003570 | Molybdenum cofactor deficiency |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0003643 | Sulfite oxidase deficiency |
| HP:0003811 | Neonatal death |
| HP:0008936 | Axial hypotonia |
| HP:0011344 | Severe global developmental delay |
| HP:0011968 | Feeding difficulties |
| HP:0012110 | Hypoplasia of the pons |
| HP:0031951 | Nocturnal seizures |
| HP:0100022 | Abnormality of movement |
| HP:0100633 | Esophagitis |
| HP:0100790 | Hernia |
| HP:0500152 | Hypocystinemia |
| HP:0500181 | Hypertaurinemia |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Enhanced |
| adrenal gland | glandular cells | Medium | Enhanced |
| appendix | glandular cells | Medium | Enhanced |
| bone marrow | hematopoietic cells | Low | Enhanced |
| breast | glandular cells | Medium | Enhanced |
| breast | myoepithelial cells | Medium | Enhanced |
| bronchus | respiratory epithelial cells | Medium | Enhanced |
| caudate | glial cells | Medium | Enhanced |
| caudate | neuronal cells | High | Enhanced |
| cerebellum | Purkinje cells | Medium | Enhanced |
| cerebellum | cells in granular layer | Medium | Enhanced |
| cerebellum | cells in molecular layer | Medium | Enhanced |
| cerebral cortex | glial cells | Medium | Enhanced |
| cerebral cortex | neuronal cells | High | Enhanced |
| cerebral cortex | neuropil | Medium | Enhanced |
| cervix | glandular cells | Low | Enhanced |
| colon | endothelial cells | Low | Enhanced |
| colon | glandular cells | Medium | Enhanced |
| colon | peripheral nerve/ganglion | Medium | Enhanced |
| duodenum | glandular cells | Medium | Enhanced |
| endometrium 1 | cells in endometrial stroma | Low | Enhanced |
| endometrium 1 | glandular cells | Medium | Enhanced |
| endometrium 2 | cells in endometrial stroma | Low | Enhanced |
| endometrium 2 | glandular cells | High | Enhanced |
| epididymis | glandular cells | High | Enhanced |
| fallopian tube | glandular cells | Medium | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| hippocampus | glial cells | Medium | Enhanced |
| hippocampus | neuronal cells | High | Enhanced |
| kidney | cells in glomeruli | High | Enhanced |
| kidney | cells in tubules | High | Enhanced |
| liver | cholangiocytes | Medium | Enhanced |
| liver | hepatocytes | Medium | Enhanced |
| lung | alveolar cells type II | Medium | Enhanced |
| lung | macrophages | Low | Enhanced |
| lymph node | germinal center cells | Medium | Enhanced |
| lymph node | non-germinal center cells | Low | Enhanced |
| nasopharynx | respiratory epithelial cells | Medium | Enhanced |
| oral mucosa | squamous epithelial cells | Medium | Enhanced |
| ovary | follicle cells | Medium | Enhanced |
| pancreas | exocrine glandular cells | Medium | Enhanced |
| pancreas | pancreatic endocrine cells | Medium | Enhanced |
| parathyroid gland | glandular cells | Medium | Enhanced |
| placenta | cytotrophoblasts | High | Enhanced |
| placenta | endothelial cells | High | Enhanced |
| placenta | hofbauer cells | Low | Enhanced |
| placenta | syncytiotrophoblasts - cell body | Medium | Enhanced |
| placenta | syncytiotrophoblasts - microvilli | Low | Enhanced |
| prostate | glandular cells | Medium | Enhanced |
| rectum | glandular cells | Medium | Enhanced |
| salivary gland | glandular cells | Medium | Enhanced |
| seminal vesicle | glandular cells | Medium | Enhanced |
| skin 1 | Langerhans | Medium | Enhanced |
| skin 1 | keratinocytes | Low | Enhanced |
| skin 1 | melanocytes | Medium | Enhanced |
| skin 2 | epidermal cells | Medium | Enhanced |
| small intestine | glandular cells | Medium | Enhanced |
| soft tissue 1 | peripheral nerve | Low | Enhanced |
| soft tissue 2 | peripheral nerve | Low | Enhanced |
| spleen | cells in red pulp | Low | Enhanced |
| spleen | cells in white pulp | Medium | Enhanced |
| stomach 1 | glandular cells | Medium | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | Leydig cells | Medium | Enhanced |
| testis | pachytene spermatocytes | Medium | Enhanced |
| testis | preleptotene spermatocytes | Medium | Enhanced |
| testis | round or early spermatids | Medium | Enhanced |
| testis | sertoli cells | Medium | Enhanced |
| testis | spermatogonia cells | Medium | Enhanced |
| thyroid gland | glandular cells | Medium | Enhanced |
| tonsil | germinal center cells | Medium | Enhanced |
| tonsil | non-germinal center cells | Low | Enhanced |
| tonsil | squamous epithelial cells | High | Enhanced |
| urinary bladder | urothelial cells | Medium | Enhanced |
| vagina | squamous epithelial cells | Medium | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| sulfite oxidase deficiency due to molybdenum cofactor deficiency type c | MONDO:0014212 | E72 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:615501 | Orphanet:308400 |
| hereditary hyperekplexia | MONDO:0021022 | G25 | chapter6, Diseases of the nervous system | OMIMPS:149400 | Orphanet:3197 |