Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.4.1.259
Transferases;
Glycosyltransferases;
Hexosyltransferases;
dolichyl-P-Man:Man6GlcNAc2-PP-dolichol α-1,2-mannosyltransferase
2.4.1.261
Transferases;
Glycosyltransferases;
Hexosyltransferases;
dolichyl-P-Man:Man8GlcNAc2-PP-dolichol α-1,2-mannosyltransferase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006488 | dolichol-linked oligosaccharide biosynthetic process |
| Biological Process | GO:0006487 | protein N-linked glycosylation |
| Molecular Function | GO:0000026 | alpha-1,2-mannosyltransferase activity |
| Molecular Function | GO:0052926 | dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity |
| Molecular Function | GO:0052918 | dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity |
| Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
| Cellular Component | GO:0016020 | membrane |
| 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-4720454 | Defective ALG9 causes CDG-1l | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Endoplasmic reticulum membrane | ECO:0000305 | PubMed:15148656 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0000083 | Renal insufficiency |
| HP:0000105 | Enlarged kidney |
| HP:0000107 | Renal cyst |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0000126 | Hydronephrosis |
| HP:0000154 | Wide mouth |
| HP:0000193 | Bifid uvula |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000248 | Brachycephaly |
| HP:0000252 | Microcephaly |
| HP:0000253 | Progressive microcephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000278 | Retrognathia |
| HP:0000286 | Epicanthus |
| HP:0000308 | Microretrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000430 | Underdeveloped nasal alae |
| HP:0000444 | Convex nasal ridge |
| HP:0000470 | Short neck |
| HP:0000473 | Torticollis |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000506 | Telecanthus |
| HP:0000520 | Proptosis |
| HP:0000565 | Esotropia |
| HP:0000586 | Shallow orbits |
| HP:0000737 | Irritability |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0000787 | Nephrolithiasis |
| HP:0000790 | Hematuria |
| HP:0000813 | Bicornuate uterus |
| HP:0000822 | Hypertension |
| HP:0000969 | Edema |
| HP:0000998 | Hypertrichosis |
| HP:0001234 | Hitchhiker thumb |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001290 | Generalized hypotonia |
| HP:0001347 | Hyperreflexia |
| HP:0001371 | Flexion contracture |
| HP:0001405 | Periportal fibrosis |
| HP:0001407 | Hepatic cysts |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001508 | Failure to thrive |
| HP:0001539 | Omphalocele |
| HP:0001541 | Ascites |
| HP:0001558 | Decreased fetal movement |
| HP:0001561 | Polyhydramnios |
| HP:0001562 | Oligohydramnios |
| HP:0001627 | Abnormal heart morphology |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
| HP:0001634 | Mitral valve prolapse |
| HP:0001671 | Abnormal cardiac septum morphology |
| HP:0001698 | Pericardial effusion |
| HP:0001737 | Pancreatic cysts |
| HP:0001762 | Talipes equinovarus |
| HP:0001789 | Hydrops fetalis |
| HP:0001999 | Abnormal facial shape |
| HP:0002007 | Frontal bossing |
| HP:0002013 | Vomiting |
| HP:0002014 | Diarrhea |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002059 | Cerebral atrophy |
| HP:0002061 | Lower limb spasticity |
| HP:0002089 | Pulmonary hypoplasia |
| HP:0002099 | Asthma |
| HP:0002101 | Abnormal lung lobation |
| HP:0002162 | Low posterior hairline |
| HP:0002188 | Delayed CNS myelination |
| HP:0002240 | Hepatomegaly |
| HP:0002265 | Large fleshy ears |
| HP:0002283 | Global brain atrophy |
| HP:0002465 | Poor speech |
| HP:0002557 | Hypoplastic nipples |
| HP:0002616 | Aortic root aneurysm |
| HP:0002652 | Skeletal dysplasia |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002808 | Kyphosis |
| HP:0002827 | Hip dislocation |
| HP:0003015 | Flared metaphysis |
| HP:0003016 | Metaphyseal widening |
| HP:0003026 | Short long bone |
| HP:0003186 | Inverted nipples |
| HP:0003196 | Short nose |
| HP:0003259 | Elevated circulating creatinine concentration |
| HP:0003375 | Narrow greater sciatic notch |
| HP:0003577 | Congenital onset |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0004331 | Decreased skull ossification |
| HP:0004944 | Dilatation of the cerebral artery |
| HP:0005133 | Right ventricular dilatation |
| HP:0005180 | Tricuspid regurgitation |
| HP:0005280 | Depressed nasal bridge |
| HP:0005343 | Hypoplasia of the bladder |
| HP:0005487 | Prominent metopic ridge |
| HP:0006557 | Polycystic liver disease |
| HP:0006610 | Wide intermamillary distance |
| HP:0007385 | Aplasia cutis congenita of scalp |
| HP:0008724 | Hypoplasia of the ovary |
| HP:0008776 | Abnormal renal artery morphology |
| HP:0008905 | Rhizomelia |
| HP:0009004 | Hypoplasia of the musculature |
| HP:0009125 | Lipodystrophy |
| HP:0009487 | Ulnar deviation of the hand |
| HP:0010763 | Low insertion of columella |
| HP:0011004 | Abnormal systemic arterial morphology |
| HP:0011103 | Abnormal left ventricular outflow tract morphology |
| HP:0011473 | Villous atrophy |
| HP:0011760 | Pituitary growth hormone cell adenoma |
| HP:0011849 | Abnormal bone ossification |
| HP:0012207 | Reduced sperm motility |
| HP:0012213 | Decreased glomerular filtration rate |
| HP:0012330 | Pyelonephritis |
| HP:0012448 | Delayed myelination |
| HP:0012531 | Pain |
| HP:0012591 | Abnormal urinary electrolyte concentration |
| HP:0012592 | Albuminuria |
| HP:0012622 | Chronic kidney disease |
| HP:0012704 | Widened subarachnoid space |
| HP:0030215 | Inappropriate crying |
| HP:0032313 | Frontotemporal hypertrichosis |
| HP:0032464 | Ureteral hypoplasia |
| HP:0100702 | Arachnoid cyst |
| HP:0100865 | Broad ischia |
| HP:0200134 | Epileptic encephalopathy |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | High | Approved |
| appendix | glandular cells | Medium | Approved |
| bone marrow | hematopoietic cells | Medium | Approved |
| breast | glandular cells | Medium | Approved |
| breast | myoepithelial cells | Medium | Approved |
| bronchus | respiratory epithelial cells | High | Approved |
| caudate | glial cells | Medium | Approved |
| caudate | neuronal cells | High | Approved |
| cerebellum | Purkinje cells | High | Approved |
| cerebellum | cells in granular layer | High | Approved |
| cerebellum | cells in molecular layer | High | Approved |
| cerebral cortex | endothelial cells | Medium | Approved |
| cerebral cortex | glial cells | Medium | Approved |
| cerebral cortex | neuronal cells | High | Approved |
| cerebral cortex | neuropil | 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 | High | Approved |
| duodenum | glandular cells | High | Approved |
| endometrium 1 | cells in endometrial stroma | Medium | Approved |
| endometrium 1 | glandular cells | High | Approved |
| endometrium 2 | cells in endometrial stroma | Medium | Approved |
| endometrium 2 | glandular cells | High | 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 | High | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | Medium | Approved |
| kidney | cells in tubules | High | Approved |
| liver | cholangiocytes | Medium | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | alveolar cells | Medium | Approved |
| lung | macrophages | High | Approved |
| lymph node | germinal center cells | Low | Approved |
| lymph node | non-germinal center cells | Medium | Approved |
| nasopharynx | respiratory epithelial cells | High | Approved |
| oral mucosa | squamous epithelial cells | Low | Approved |
| ovary | ovarian stroma cells | Medium | Approved |
| pancreas | exocrine glandular cells | High | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | trophoblastic cells | High | Approved |
| prostate | glandular cells | High | Approved |
| rectum | glandular cells | High | Approved |
| salivary gland | glandular cells | High | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | fibroblasts | Medium | Approved |
| skin 1 | keratinocytes | Low | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | High | Approved |
| smooth muscle | smooth muscle cells | Medium | Approved |
| soft tissue 1 | fibroblasts | Medium | Approved |
| soft tissue 1 | peripheral nerve | Medium | Approved |
| soft tissue 2 | fibroblasts | Medium | Approved |
| spleen | cells in red pulp | High | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | High | Approved |
| stomach 2 | glandular cells | High | Approved |
| testis | Leydig cells | High | Approved |
| testis | cells in seminiferous ducts | Medium | Approved |
| thyroid gland | glandular cells | High | Approved |
| tonsil | germinal center cells | Low | Approved |
| tonsil | non-germinal center cells | Medium | Approved |
| tonsil | squamous epithelial cells | Low | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| autosomal dominant polycystic kidney disease | MONDO:0004691 | Q61 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:730 | |
| gillessen-kaesbach-nishimura syndrome | MONDO:0009890 | E77 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:263210 |