Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.8.2.17
Transferases;
Transferring sulfur-containing groups;
Sulfotransferases;
chondroitin 6-sulfotransferase
2.8.2.21
Transferases;
Transferring sulfur-containing groups;
Sulfotransferases;
keratan sulfotransferase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006044 | N-acetylglucosamine metabolic process |
| Biological Process | GO:0043029 | T cell homeostasis |
| Biological Process | GO:0005975 | carbohydrate metabolic process |
| Biological Process | GO:0030206 | chondroitin sulfate biosynthetic process |
| Biological Process | GO:0006790 | sulfur compound metabolic process |
| Molecular Function | GO:0001517 | N-acetylglucosamine 6-O-sulfotransferase activity |
| Molecular Function | GO:0008459 | chondroitin 6-sulfotransferase activity |
| Molecular Function | GO:0050698 | proteoglycan sulfotransferase activity |
| Cellular Component | GO:0000139 | Golgi membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-2022870 | Chondroitin sulfate biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-3595172 | Defective CHST3 causes SEDCJD | Leaf | R-HSA-1643685 | Disease |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Golgi apparatus membrane | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000160 | Narrow mouth |
| HP:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000238 | Hydrocephalus |
| HP:0000248 | Brachycephaly |
| HP:0000274 | Small face |
| HP:0000308 | Microretrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000337 | Broad forehead |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000465 | Webbed neck |
| HP:0000470 | Short neck |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000520 | Proptosis |
| HP:0000540 | Hypermetropia |
| HP:0000565 | Esotropia |
| HP:0000574 | Thick eyebrow |
| HP:0000592 | Blue sclerae |
| HP:0000646 | Amblyopia |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000687 | Widely spaced teeth |
| HP:0000691 | Microdontia |
| HP:0000768 | Pectus carinatum |
| HP:0000774 | Narrow chest |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0000878 | 11 pairs of ribs |
| HP:0000914 | Shield chest |
| HP:0000926 | Platyspondyly |
| HP:0000938 | Osteopenia |
| HP:0000939 | Osteoporosis |
| HP:0000973 | Cutis laxa |
| HP:0000974 | Hyperextensible skin |
| HP:0001087 | Developmental glaucoma |
| HP:0001090 | Abnormally large globe |
| HP:0001156 | Brachydactyly |
| HP:0001222 | Spatulate thumbs |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001363 | Craniosynostosis |
| HP:0001371 | Flexion contracture |
| HP:0001373 | Joint dislocation |
| HP:0001382 | Joint hypermobility |
| HP:0001552 | Barrel-shaped chest |
| HP:0001623 | Breech presentation |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
| HP:0001634 | Mitral valve prolapse |
| HP:0001640 | Cardiomegaly |
| HP:0001642 | Pulmonic stenosis |
| HP:0001647 | Bicuspid aortic valve |
| HP:0001650 | Aortic valve stenosis |
| HP:0001653 | Mitral regurgitation |
| HP:0001655 | Patent foramen ovale |
| HP:0001659 | Aortic regurgitation |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0001714 | Ventricular hypertrophy |
| HP:0001718 | Mitral stenosis |
| HP:0001762 | Talipes equinovarus |
| HP:0001763 | Pes planus |
| HP:0001772 | Talipes equinovalgus |
| HP:0001822 | Hallux valgus |
| HP:0001840 | Metatarsus adductus |
| HP:0001852 | Sandal gap |
| HP:0002007 | Frontal bossing |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002162 | Low posterior hairline |
| HP:0002194 | Delayed gross motor development |
| HP:0002515 | Waddling gait |
| HP:0002553 | Highly arched eyebrow |
| HP:0002616 | Aortic root aneurysm |
| HP:0002650 | Scoliosis |
| HP:0002655 | Spondyloepiphyseal dysplasia |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002751 | Kyphoscoliosis |
| HP:0002757 | Recurrent fractures |
| HP:0002808 | Kyphosis |
| HP:0002816 | Genu recurvatum |
| HP:0002827 | Hip dislocation |
| HP:0002829 | Arthralgia |
| HP:0002857 | Genu valgum |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0002945 | Intervertebral space narrowing |
| HP:0002967 | Cubitus valgus |
| HP:0002974 | Radioulnar synostosis |
| HP:0002982 | Tibial bowing |
| HP:0002987 | Elbow flexion contracture |
| HP:0003015 | Flared metaphysis |
| HP:0003022 | Hypoplasia of the ulna |
| HP:0003031 | Ulnar bowing |
| HP:0003037 | Enlarged joints |
| HP:0003040 | Arthropathy |
| HP:0003042 | Elbow dislocation |
| HP:0003051 | Enlarged metaphyses |
| HP:0003071 | Flattened epiphysis |
| HP:0003083 | Dislocated radial head |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis |
| HP:0003093 | Limited hip extension |
| HP:0003184 | Decreased hip abduction |
| HP:0003301 | Irregular vertebral endplates |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0003417 | Coronal cleft vertebrae |
| HP:0003521 | Disproportionate short-trunk short stature |
| HP:0003577 | Congenital onset |
| HP:0003834 | Shoulder dislocation |
| HP:0004298 | Abnormality of the abdominal wall |
| HP:0004322 | Short stature |
| HP:0004976 | Knee dislocation |
| HP:0005021 | Bilateral elbow dislocations |
| HP:0005180 | Tricuspid regurgitation |
| HP:0005280 | Depressed nasal bridge |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0006067 | Multiple carpal ossification centers |
| HP:0006099 | Metacarpophalangeal joint hyperextensibility |
| HP:0006462 | Generalized bone demineralization |
| HP:0006471 | Fixed elbow flexion |
| HP:0006610 | Wide intermamillary distance |
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0008450 | Narrow vertebral interpedicular distance |
| HP:0008551 | Microtia |
| HP:0008593 | Prominent antitragus |
| HP:0008905 | Rhizomelia |
| HP:0009179 | Deviation of the 5th finger |
| HP:0009803 | Short phalanx of finger |
| HP:0009811 | Abnormality of the elbow |
| HP:0009880 | Broad distal phalanges of all fingers |
| HP:0009882 | Short distal phalanx of finger |
| HP:0010049 | Short metacarpal |
| HP:0010446 | Tricuspid stenosis |
| HP:0010582 | Irregular epiphyses |
| HP:0010585 | Small epiphyses |
| HP:0011220 | Prominent forehead |
| HP:0011800 | Midface retrusion |
| HP:0012095 | Multiple joint dislocation |
| HP:0012368 | Flat face |
| HP:0030680 | Abnormality of cardiovascular system morphology |
| HP:0040160 | Generalized osteoporosis |
| HP:0045075 | Sparse eyebrow |
| HP:0100490 | Camptodactyly of finger |
| HP:0100864 | Short femoral neck |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Enhanced |
| appendix | glandular cells | Low | Enhanced |
| breast | glandular cells | Medium | Enhanced |
| caudate | neuronal cells | Low | Enhanced |
| colon | endothelial cells | Low | Enhanced |
| colon | glandular cells | Low | Enhanced |
| duodenum | glandular cells | Low | Enhanced |
| endometrium 2 | glandular cells | Low | Enhanced |
| fallopian tube | ciliated cells (ciliary rootlets) | Low | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| kidney | cells in tubules | Low | Enhanced |
| lung | macrophages | Low | Enhanced |
| pancreas | exocrine glandular cells | Low | Enhanced |
| placenta | decidual cells | High | Enhanced |
| rectum | glandular cells | Medium | Enhanced |
| salivary gland | glandular cells | Low | Enhanced |
| seminal vesicle | glandular cells | Medium | Enhanced |
| skin 1 | keratinocytes | Low | Enhanced |
| skin 1 | melanocytes | Low | Enhanced |
| skin 2 | epidermal cells | Low | Enhanced |
| small intestine | glandular cells | Medium | Enhanced |
| soft tissue 1 | chondrocytes | High | Enhanced |
| stomach 1 | glandular cells | Low | Enhanced |
| testis | Leydig cells | Medium | Enhanced |
| testis | round or early spermatids | Medium | Enhanced |
| testis | sertoli cells | Low | Enhanced |
| testis | spermatogonia cells | Low | Enhanced |
| thyroid gland | glandular cells | Low | Enhanced |
| urinary bladder | urothelial cells | Low | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| spondyloepiphyseal dysplasia with congenital joint dislocations | MONDO:0007738 | Q74 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:143095 | Orphanet:263463 |