Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.4.1.141
Transferases;
Glycosyltransferases;
Hexosyltransferases;
N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
3.4.19.12
Hydrolases;
Acting on peptide bonds (peptidases);
Omega peptidases;
ubiquitinyl hydrolase 1
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006488 | dolichol-linked oligosaccharide biosynthetic process |
| Biological Process | GO:0006508 | proteolysis |
| Molecular Function | GO:0004577 | N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0004843 | cysteine-type deubiquitinase activity |
| Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR002999 | Tudor domain |
| IPR003323 | OTU domain |
| IPR007235 | Glycosyl transferase, family 28, C-terminal |
| IPR038765 | Papain-like cysteine peptidase superfamily |
| IPR039042 | UDP-N-acetylglucosamine transferase subunit Alg13-like |
| IPR047387 | Bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13, OTU domain |
| Pfam
|
Pfam name |
|---|---|
| PF02338 | OTU-like cysteine protease |
| PF04101 | Glycosyltransferase family 28 C-terminal domain |
| 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-5633231 | Defective ALG14 causes ALG14-CMS | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Endoplasmic reticulum | ECO:0000305 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000280 | Coarse facial features |
| HP:0000308 | Microretrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000331 | Short chin |
| HP:0000343 | Long philtrum |
| HP:0000369 | Low-set ears |
| HP:0000463 | Anteverted nares |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000666 | Horizontal nystagmus |
| HP:0000717 | Autism |
| HP:0000742 | Self-mutilation |
| HP:0000750 | Delayed speech and language development |
| HP:0000817 | Reduced eye contact |
| HP:0001181 | Adducted thumb |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001371 | Flexion contracture |
| HP:0001417 | X-linked inheritance |
| HP:0001892 | Abnormal bleeding |
| HP:0002059 | Cerebral atrophy |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0002188 | Delayed CNS myelination |
| HP:0002240 | Hepatomegaly |
| HP:0002283 | Global brain atrophy |
| HP:0002312 | Clumsiness |
| HP:0002360 | Sleep disturbance |
| HP:0002421 | Poor head control |
| HP:0002521 | Hypsarrhythmia |
| HP:0002650 | Scoliosis |
| HP:0002719 | Recurrent infections |
| HP:0003593 | Infantile onset |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0003645 | Prolonged partial thromboplastin time |
| HP:0004325 | Decreased body weight |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0010819 | Atonic seizure |
| HP:0010864 | Intellectual disability, severe |
| HP:0011968 | Feeding difficulties |
| HP:0012443 | Abnormality of brain morphology |
| HP:0012469 | Infantile spasms |
| HP:0030047 | Abnormal lateral ventricle morphology |
| HP:0032792 | Tonic seizure |
| HP:0032794 | Myoclonic seizure |
| HP:0100543 | Cognitive impairment |
| HP:0200055 | Small hand |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Approved |
| adrenal gland | glandular cells | High | Approved |
| appendix | glandular cells | High | Approved |
| appendix | lymphoid tissue | Medium | Approved |
| bone marrow | hematopoietic cells | Medium | Approved |
| breast | glandular cells | High | Approved |
| breast | myoepithelial cells | High | Approved |
| bronchus | respiratory epithelial cells | Low | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Medium | Approved |
| cerebellum | Purkinje cells | Medium | Approved |
| cerebellum | cells in granular layer | Low | Approved |
| cerebellum | cells in molecular layer | Low | Approved |
| cerebral cortex | endothelial cells | Low | Approved |
| cerebral cortex | glial cells | Low | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cerebral cortex | neuropil | Low | Approved |
| cervix | glandular cells | High | Approved |
| colon | glandular cells | High | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | glandular cells | High | Approved |
| endometrium 2 | glandular cells | High | Approved |
| epididymis | glandular cells | High | Approved |
| esophagus | squamous epithelial cells | Low | Approved |
| fallopian tube | glandular cells | High | Approved |
| gallbladder | glandular cells | High | Approved |
| heart muscle | cardiomyocytes | Low | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | Medium | Approved |
| kidney | cells in glomeruli | Low | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | cholangiocytes | Medium | Approved |
| lung | alveolar cells | Low | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Medium | Approved |
| lymph node | non-germinal center cells | Medium | Approved |
| nasopharynx | respiratory epithelial cells | Medium | Approved |
| oral mucosa | squamous epithelial cells | Low | Approved |
| ovary | follicle cells | Medium | Approved |
| ovary | ovarian stroma cells | Medium | Approved |
| pancreas | exocrine glandular cells | High | Approved |
| pancreas | pancreatic endocrine cells | High | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | trophoblastic cells | Low | Approved |
| prostate | glandular cells | Low | Approved |
| rectum | glandular cells | High | Approved |
| salivary gland | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | Low | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | keratinocytes | Medium | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | Medium | Approved |
| small intestine | glandular cells | High | Approved |
| smooth muscle | smooth muscle cells | Low | Approved |
| soft tissue 1 | fibroblasts | Low | Approved |
| soft tissue 2 | fibroblasts | Low | Approved |
| spleen | cells in red pulp | Medium | Approved |
| spleen | cells in white pulp | High | Approved |
| stomach 1 | glandular cells | High | Approved |
| stomach 2 | glandular cells | High | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | cells in seminiferous ducts | High | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | High | Approved |
| tonsil | non-germinal center cells | High | Approved |
| tonsil | squamous epithelial cells | Medium | Approved |
| urinary bladder | urothelial cells | High | Approved |
| vagina | squamous epithelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| microcephaly | MONDO:0001149 | Q02 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | ||
| developmental and epileptic encephalopathy, 36 | MONDO:0010472 | E77 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:300884 | Orphanet:324422 |
| non-syndromic x-linked intellectual disability | MONDO:0019181 | F70 | chapter5, Mental and behavioural disorders | OMIMPS:309530 | Orphanet:777 |