Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.8.2.8
Transferases;
Transferring sulfur-containing groups;
Sulfotransferases;
[heparan sulfate]-glucosamine N-sulfotransferase
3.5.1.-
Hydrolases;
Acting on carbon-nitrogen bonds, other than peptide bonds;
In linear amides;
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1NST | 2.3 | THE SULFOTRANSFERASE DOMAIN OF HUMAN HAPARIN SULFATE N-DEACETYLASE/N-SULFOTRANSFERASE |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0035904 | aorta development |
| Biological Process | GO:0003279 | cardiac septum development |
| Biological Process | GO:0008283 | cell population proliferation |
| Biological Process | GO:0060976 | coronary vasculature development |
| Biological Process | GO:0048702 | embryonic neurocranium morphogenesis |
| Biological Process | GO:0048703 | embryonic viscerocranium morphogenesis |
| Biological Process | GO:0008543 | fibroblast growth factor receptor signaling pathway |
| Biological Process | GO:0030900 | forebrain development |
| Biological Process | GO:0015015 | heparan sulfate proteoglycan biosynthetic process, enzymatic modification |
| Biological Process | GO:0015014 | heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process |
| Biological Process | GO:0030210 | heparin biosynthetic process |
| Biological Process | GO:0006954 | inflammatory response |
| Biological Process | GO:0030901 | midbrain development |
| Biological Process | GO:0043410 | positive regulation of MAPK cascade |
| Biological Process | GO:0045880 | positive regulation of smoothened signaling pathway |
| Biological Process | GO:0006477 | protein sulfation |
| Biological Process | GO:0007585 | respiratory gaseous exchange by respiratory system |
| Molecular Function | GO:0050119 | N-acetylglucosamine deacetylase activity |
| Molecular Function | GO:0019213 | deacetylase activity |
| Molecular Function | GO:0102140 | heparan sulfate N-deacetylase activity |
| Molecular Function | GO:0015016 | heparan sulfate-glucosamine N-sulfotransferase activity |
| Cellular Component | GO:0005794 | Golgi apparatus |
| Cellular Component | GO:0000139 | Golgi membrane |
| Cellular Component | GO:0032588 | trans-Golgi network membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-2022928 | HS-GAG biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Golgi apparatus, cis-Golgi network membrane | ECO:0000269 | PubMed:35137078 |
| Golgi apparatus, trans-Golgi network membrane | ECO:0000269 | PubMed:35137078 |
| Golgi apparatus, trans-Golgi network membrane | ECO:0000269 | PubMed:9230113 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000286 | Epicanthus |
| HP:0000303 | Mandibular prognathia |
| HP:0000411 | Protruding ear |
| HP:0000486 | Strabismus |
| HP:0000639 | Nystagmus |
| HP:0000664 | Synophrys |
| HP:0000687 | Widely spaced teeth |
| HP:0000713 | Agitation |
| HP:0000718 | Aggressive behavior |
| HP:0000750 | Delayed speech and language development |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001510 | Growth delay |
| HP:0001520 | Large for gestational age |
| HP:0001763 | Pes planus |
| HP:0002119 | Ventriculomegaly |
| HP:0002194 | Delayed gross motor development |
| HP:0002360 | Sleep disturbance |
| HP:0002465 | Poor speech |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0010862 | Delayed fine motor development |
| HP:0011463 | Childhood onset |
| HP:0100716 | Self-injurious behavior |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Medium | Approved |
| adrenal gland | glandular cells | Low | Approved |
| appendix | glandular cells | Medium | Approved |
| breast | adipocytes | Low | Approved |
| breast | glandular cells | Low | Approved |
| bronchus | ciliated cells (cell body) | Medium | Approved |
| caudate | neuronal cells | Medium | Approved |
| cerebellum | Purkinje cells | Medium | Approved |
| cerebral cortex | neuronal cells | Medium | Approved |
| cervix | squamous epithelial cells | Medium | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | glandular cells | Low | Approved |
| epididymis | glandular cells | Low | Approved |
| esophagus | squamous epithelial cells | Medium | Approved |
| fallopian tube | ciliated cells (ciliary rootlets) | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | neuronal cells | Medium | Approved |
| kidney | cells in glomeruli | Low | Approved |
| kidney | cells in tubules | Medium | Approved |
| liver | hepatocytes | High | Approved |
| lung | alveolar cells | Low | Approved |
| lung | macrophages | Medium | Approved |
| nasopharynx | ciliated cells (ciliary rootlets) | Low | Approved |
| oral mucosa | squamous epithelial cells | High | Approved |
| ovary | follicle cells | Medium | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Low | Approved |
| parathyroid gland | glandular cells | Low | Approved |
| placenta | decidual cells | Low | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skin 1 | Langerhans | High | Approved |
| skin 1 | keratinocytes | High | Approved |
| skin 2 | epidermal cells | High | Approved |
| small intestine | glandular cells | Medium | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | elongated or late spermatids | Low | Approved |
| testis | round or early spermatids | Medium | Approved |
| thyroid gland | glandular cells | Low | Approved |
| tonsil | squamous epithelial cells | High | Approved |
| urinary bladder | urothelial cells | Low | Approved |
| vagina | squamous epithelial cells | Medium | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| intellectual disability- autosomal recessive 46 | MONDO:0014499 | F70 | chapter5, Mental and behavioural disorders | OMIM:616116 | |
| intellectual disability- autosomal recessive 46 | MONDO:0014499 | F71 | chapter5, Mental and behavioural disorders | OMIM:616116 | |
| intellectual disability- autosomal recessive 46 | MONDO:0014499 | F72 | chapter5, Mental and behavioural disorders | OMIM:616116 | |
| intellectual disability- autosomal recessive 46 | MONDO:0014499 | F73 | chapter5, Mental and behavioural disorders | OMIM:616116 |