Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.4.1.132
Transferases;
Glycosyltransferases;
Hexosyltransferases;
GDP-Man:Man1GlcNAc2-PP-dolichol α-1,3-mannosyltransferase
2.4.1.257
Transferases;
Glycosyltransferases;
Hexosyltransferases;
GDP-Man:Man2GlcNAc2-PP-dolichol α-1,6-mannosyltransferase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006488 | dolichol-linked oligosaccharide biosynthetic process |
| Biological Process | GO:0006490 | oligosaccharide-lipid intermediate biosynthetic process |
| Biological Process | GO:0006486 | protein glycosylation |
| Biological Process | GO:0051592 | response to calcium ion |
| Molecular Function | GO:0004378 | GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity |
| Molecular Function | GO:0102704 | GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity |
| Molecular Function | GO:0000033 | alpha-1,3-mannosyltransferase activity |
| Molecular Function | GO:0048306 | calcium-dependent protein binding |
| Molecular Function | GO:0046982 | protein heterodimerization activity |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0048471 | perinuclear region of cytoplasm |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-446193 | Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | Internal node | R-HSA-392499 | Metabolism of proteins |
| R-HSA-4549349 | Defective ALG2 causes CDG-1i | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Membrane | ECO:0000305 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000286 | Epicanthus |
| HP:0000369 | Low-set ears |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000431 | Wide nasal bridge |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000565 | Esotropia |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000612 | Iris coloboma |
| HP:0000639 | Nystagmus |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000750 | Delayed speech and language development |
| HP:0000817 | Reduced eye contact |
| HP:0000821 | Hypothyroidism |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| HP:0001290 | Generalized hypotonia |
| HP:0001332 | Dystonia |
| HP:0001347 | Hyperreflexia |
| HP:0001371 | Flexion contracture |
| HP:0001388 | Joint laxity |
| HP:0001763 | Pes planus |
| HP:0001891 | Iron deficiency anemia |
| HP:0001928 | Abnormality of coagulation |
| HP:0001929 | Reduced factor XI activity |
| HP:0001999 | Abnormal facial shape |
| HP:0002014 | Diarrhea |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002188 | Delayed CNS myelination |
| HP:0002240 | Hepatomegaly |
| HP:0002355 | Difficulty walking |
| HP:0002359 | Frequent falls |
| HP:0002421 | Poor head control |
| HP:0002460 | Distal muscle weakness |
| HP:0002515 | Waddling gait |
| HP:0002521 | Hypsarrhythmia |
| HP:0002650 | Scoliosis |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0003186 | Inverted nipples |
| HP:0003198 | Myopathy |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003307 | Hyperlordosis |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003388 | Easy fatigability |
| HP:0003391 | Gowers sign |
| HP:0003394 | Muscle spasm |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0003473 | Fatigable weakness |
| HP:0003551 | Difficulty climbing stairs |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003593 | Infantile onset |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0003645 | Prolonged partial thromboplastin time |
| HP:0003677 | Slowly progressive |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0003691 | Scapular winging |
| HP:0003701 | Proximal muscle weakness |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0004322 | Short stature |
| HP:0004325 | Decreased body weight |
| HP:0006380 | Knee flexion contracture |
| HP:0006808 | Cerebral hypomyelination |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
| HP:0008180 | Mildly elevated creatine kinase |
| HP:0009028 | Generalized weakness of limb muscles |
| HP:0009046 | Difficulty running |
| HP:0010628 | Facial palsy |
| HP:0010864 | Intellectual disability, severe |
| HP:0011097 | Epileptic spasm |
| HP:0011344 | Severe global developmental delay |
| HP:0011463 | Childhood onset |
| HP:0012368 | Flat face |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0012469 | Infantile spasms |
| HP:0012520 | Dilation of Virchow-Robin spaces |
| HP:0012704 | Widened subarachnoid space |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity |
| HP:0020045 | Esodeviation |
| HP:0020152 | Distal joint laxity |
| HP:0030191 | Abnormal peripheral nervous system synaptic transmission |
| HP:0030202 | Favorable response of weakness to acetylcholine esterase inhibitors |
| HP:0030205 | Increased jitter at single fiber EMG |
| HP:0030319 | Weakness of facial musculature |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI |
| HP:0033725 | Thin corpus callosum |
| HP:0040288 | Nasogastric tube feeding |
| HP:0100301 | Muscle fiber tubular inclusions |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | Medium | Approved |
| bone marrow | hematopoietic cells | Low | Approved |
| bronchus | respiratory epithelial cells | Low | Approved |
| cerebral cortex | endothelial cells | Low | Approved |
| cerebral cortex | neuronal cells | Low | Approved |
| colon | glandular cells | Medium | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | glandular cells | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | High | Approved |
| esophagus | squamous epithelial cells | Low | Approved |
| fallopian tube | glandular cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Low | Approved |
| kidney | cells in tubules | Medium | Approved |
| lung | macrophages | Low | Approved |
| lymph node | non-germinal center cells | Medium | Approved |
| nasopharynx | respiratory epithelial cells | Medium | 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 | Medium | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | Low | Approved |
| skin 1 | melanocytes | Low | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | Low | 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 | Medium | Approved |
| tonsil | non-germinal center cells | Low | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| alg2-cdg | MONDO:0011933 | E77 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:607906 | Orphanet:79326 |
| congenital myasthenic syndrome 14 | MONDO:0014543 | G70 | chapter6, Diseases of the nervous system | OMIM:616228 |