Recombinant Human Carbohydrate sulfotransferase 14 (CHST14), partial

Code CSB-YP839851HU
MSDS
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Source Yeast
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Code CSB-EP839851HU
MSDS
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Source E.coli
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Code CSB-EP839851HU-B
MSDS
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP839851HU
MSDS
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Source Baculovirus
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Code CSB-MP839851HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
CHST14
Uniprot No.
Alternative Names
2600016L03Rik; ATCS; Carbohydrate (N acetylgalactosamine 4 0) sulfotransferase 14; Carbohydrate sulfotransferase 14; CHST14; CHSTE_HUMAN; D4ST-1; D4st1; Dermatan 4-sulfotransferase 1; hD4ST1; RP23-286G12.2; UNQ1925/PRO4400
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose.
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. Appears to have an important role in the formation of the cerebellar neural network during postnatal brain development.
Gene References into Functions
  1. Dermatan sulfate does not appear in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. PMID: 28238810
  2. 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 PMID: 26646600
  3. CHST14 gene mutations are associated with musculocontractural type of Ehlers-Danlos syndrome. PMID: 26373698
  4. We report on the detailed clinical characterization of two sisters with musculocontractural Ehlers-Danlos syndrome caused by a homozygous mutation in the CHST14 gene. PMID: 22581468
  5. Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome". PMID: 21309034
  6. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. PMID: 20842734
  7. A homozygous CHST14 (carbohydrate sulfotransferase 14) mutation in the two familial cases and compound heterozygous mutations in four sporadic cases of Ehlers-Danlos syndrome, were identified. PMID: 20533528
  8. D4ST-1 is a key enzyme and is indispensable in the formation of important functional domains in dermatan sulfate and cannot be compensated by other 4-O-sulfotransferases PMID: 19661164
  9. dermatan-4-sulfotransferase 1 has a role in adducted thumb-clubfoot syndrome PMID: 20004762
  10. D4ST-1 is encoded by a single exon located on human chromosome 15q14; type II membrane protein of 376 amino acids with a 43-amino acid cytoplasmic domain and a 316-amino acid luminal domain containing two potential N-linked glycosylation sites PMID: 11470797

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Involvement in disease
Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
Subcellular Location
Golgi apparatus membrane; Single-pass type II membrane protein.
Protein Families
Sulfotransferase 2 family
Tissue Specificity
Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid.
Database Links

HGNC: 24464

OMIM: 601776

KEGG: hsa:113189

STRING: 9606.ENSP00000307297

UniGene: Hs.442449

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