Recombinant human Exostosin-like 3 protein

Code CSB-YP030754h
MSDS
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Source Yeast
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Code CSB-EP030754h
MSDS
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Source E.coli
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Code CSB-EP030754h-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-BP030754h
MSDS
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Source Baculovirus
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Code CSB-MP030754h
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
EXTL3
Uniprot No.
Research Area
Others
Alternative Names
botv; DKFZp686C2342; Exostoses (multiple)-like 3; Exostoses-like 3; Exostosin-like 3; EXT-related protein 1; EXTL1L; EXTL3; EXTL3_HUMAN; EXTR1; Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferas; Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Hereditary multiple exostoses gene isolog; KIAA0519; Multiple exostosis-like protein 3; Putative tumor suppressor protein EXTL3; REG; Reg receptor; REGR; RPR
Species
Homo sapiens (Human)
Expression Region
2-245aa
Target Protein Sequence
TGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEAGKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKSIENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLHNCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVILVGEM
Mol. Weight
55kD
Protein Length
Full Length of Mature Protein
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, pH 8.0
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
Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation.
Gene References into Functions
  1. Human lumenal N-glycosylated EXTL3 (EXTL3DeltaN) was cloned, expressed in human embryonic kidney cells, and purified. Various biophysical and biochemical approaches were then employed to elucidate the N-glycosylation sites and the function of their attached N-glycans. PMID: 29346724
  2. EXTL3 missense mutation is associated with spondylo-epi-metaphyseal dysplasia. PMID: 28331220
  3. EXTL3 mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development. PMID: 28148688
  4. We show that biallelic mutations in EXTL3 disturb glycosaminoglycan synthesis and thus lead to a recognizable syndrome characterized by variable expression of skeletal, neurological, and immunological abnormalities. PMID: 28132690
  5. Recombinant EXTL2 showed weak ability to transfer N-acetylgalactosamine to heparan sulfate precursor molecules but also, that EXTL2 exhibited much stronger in vitro N-acetylglucosamine-transferase activity related to elongation of heparan sulfate chains. PMID: 25829497
  6. Regenerating islet-derived 1alpha (Reg-1alpha) protein is new neuronal secreted factor that stimulates neurite outgrowth via exostosin Tumor-like 3 (EXTL3) receptor. PMID: 22158612
  7. Lysosomal glycosaminoglycan levels in mucopolysaccharidosis are reduced by EXTL3 gene silencing. PMID: 19690583
  8. We conclude that EXTL3 promoter methylation and its related loss of EXTL3 expression are involved in the loss of HS expression in mucinous CRCs. PMID: 18543267
  9. HIP enhanced EXTL3 translocation from the membrane to the nucleus, in support of a model whereby EXTL3 mediates HIP signaling for islet neogenesis. PMID: 19158046
  10. A missense mutation involving the exon 3 of the EXTL3 gene in the case of obstructing colon cancer is described in a 31-year-old patient affected by hereditary multiple exostoses. PMID: 19653241
  11. These results suggest that EXTL3/EXTR1 is a cell surface Reg receptor that binds to Reg protein. PMID: 10753861

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Involvement in disease
Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)
Subcellular Location
Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus.
Protein Families
Glycosyltransferase 47 family
Tissue Specificity
Ubiquitous. Expressed in keratinocytes.
Database Links

HGNC: 3518

OMIM: 605744

KEGG: hsa:2137

STRING: 9606.ENSP00000220562

UniGene: Hs.491354

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