| Type | Description |
|---|---|
| Definition | carbohydrate sulfotransferase 14 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:38:00 | Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. | 32130795 |
| 2019-09-28 10:04:00 | Patients with musculocontractural Ehlers-Danlos syndrome-CHST14 are susceptible to develop scoliosis, thoracolumbar kyphosis. | 30195269 |
| 2019-03-09 10:10:00 | DS-epi1, DS-epi2, and D4ST1 form homomers and are all part of a hetero-oligomeric complex where D4ST1 directly interacts with DS-epi1, but not with DS-epi2. The cooperation of DS-epi1 with D4ST1 may therefore explain the processive mode of the formation of iduronic acid blocks. | 29976758 |
| 2017-07-22 11:13:00 | Dermatan sulfate does not appear in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. | 28238810 |
| 2017-02-04 11:48:00 | patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation of the pathophysiology in view of future etiology-based therapy are crucial | 26646600 |
| Type | IDs |
|---|---|
| Synonymous | ATCS, D4ST1, EDSMC1, HNK1ST |
| Gene |
UniProtKB-ID:
CHSTE_HUMAN
UniprotKB:
Q8NCH0
UniParc:
UPI000004616D
EMBL:
AF401222,
AF282905,
BC049214,
AY358446,
AB066595,
AK074739,
BC023653,
BC053633
Ensembl:
ENSG00000169105
KO:
hsa:113189
|
| Nucleutide sequences |
EMBL-CDS:
BAC11172.1,
AAH53633.1,
AAQ88811.1,
AAK92532.1,
AAH49214.1,
AAH23653.1,
AAK69530.1,
BAB84097.1
Gene_ORFName:
UNQ1925/PRO4400
Ensembl_TRS:
ENST00000306243
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000307297
RefSeq:
NP_569735.1
|
| Others |
UniRef100:
UniRef100_Q8NCH0
UniRef90:
UniRef90_Q8NCH0
UniRef50:
UniRef50_Q8NCH0
UniGene:
Hs.442449
CCDS:
CCDS10059.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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