Recombinant Human Protein O-glucosyltransferase 1 (POGLUT1)

Code CSB-YP818754HU
MSDS
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Source Yeast
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Code CSB-EP818754HU-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-BP818754HU
MSDS
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Source Baculovirus
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Code CSB-MP818754HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
POGLUT1
Uniprot No.
Alternative Names
C3orf9; CAP10 like 46 kDa protein ; CAP10 like protein, 46 kDa ; CAP10-like 46 kDa protein; CLP46; hCLP46; hRumi; KDELC family like 1 ; KDELCL1; KTEL (Lys Tyr Glu Leu) containing 1 ; KTEL motif containing protein 1 ; KTEL motif-containing protein 1; KTEL1; KTELC1; MDS010; MDSRP; Myelodysplastic syndromes relative protein; O-glucosyltransferase rumi homolog; PGLT1_HUMAN; Poglut1; protein O glucosyltransferase 1; Protein O-glucosyltransferase 1; Protein O-xylosyltransferase; Rumi; x 010 protein
Species
Homo sapiens (Human)
Expression Region
24-392
Target Protein Sequence
RQKESGS KWKVFIDQIN RSLENYEPCS SQNCSCYHGV IEEDLTPFRG GISRKMMAEV VRRKLGTHYQ ITKNRLYREN DCMFPSRCSG VEHFILEVIG RLPDMEMVIN VRDYPQVPKW MEPAIPVFSF SKTSEYHDIM YPAWTFWEGG PAVWPIYPTG LGRWDLFRED LVRSAAQWPW KKKNSTAYFR GSRTSPERDP LILLSRKNPK LVDAEYTKNQ AWKSMKDTLG KPAAKDVHLV DHCKYKYLFN FRGVAASFRF KHLFLCGSLV FHVGDEWLEF FYPQLKPWVH YIPVKTDLSN VQELLQFVKA NDDVAQEIAE RGSQFIRNHL QMDDITCYWE NLLSEYSKFL SYNVTRRKGY DQIIPKMLKT EL
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.
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? for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C. Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2. Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development. Notch glucosylation does not affect Notch ligand binding. Required during early development to promote gastrulation: acts by mediating O-glucosylation of CRB2, which is required for CRB2 localization to the cell membrane.
Gene References into Functions
  1. Here we report the generation and characterization of an iPSC line (CSCRMi001-A) from a LGMD-2Z patient with missense mutation in POGLUT1 which can be used for in vitro disease modeling. PMID: 29034878
  2. The data suggest that hCLP46(human CAP10-like protein 46 kDa) overexpression in colorectal cancer is associated with higher tumor-node-metastasis stage, lymph node metastasis, and shorter survival time. PMID: 28481732
  3. These findings expand the spectrum of mutations in POGLUT1 and confirm POGLUT1 as the third candidate gene, along with KRT5 and POFUT1, to consider in diagnosis of GGD/DDD. PMID: 27479915
  4. These data suggest that a key pathomechanism for this novel form of muscular dystrophy with POGLUT1 mutation is Notch-dependent loss of satellite cells. PMID: 27807076
  5. hCLP46 increases Smad3 protein stability via inhibiting its ubiquitin-proteasomal degradation PMID: 26058784
  6. miR-134 inhibited human endometrial cancer stem cells proliferation and migration by targeting protein O-glucosyltransferase 1 (POGLUT1) expression PMID: 25528443
  7. Mutations in POFUT1, which encodes protein O-fucosyltransferase 1, were reported to be responsible for Dowling-Degos disease. PMID: 24387993
  8. overexpression of hCLP46 inhibited proliferation of 293TRexs and was correlated with increases in cyclin dependent kinase inhibitors p21 and p27, whereas reduced hCLP46 expression moderately increased cell proliferation. PMID: 23692084
  9. lack of hCLP46 results in impaired ligand induced Notch activation in mammalian cell, and hCLP46 regulates the proliferation of U937 cell through CDKI-RB signaling pathway, which may be important for the pathogenesis of leukemia. PMID: 21458412
  10. CLP46 was overexpressed in AML, T-ALL, and leukemic cell lines. Considering that CLP46 has the capability of modifying the Notch pathway, our finding adds weight to the possible importance of Notch signaling in the pathogenesis of AML and T-ALL. PMID: 20143914
  11. Altered C3ORF9 expression in myelodysplastic syndrome was possibly due to different gene regulation in these patients and/or to the increased CD34+ cells. PMID: 19822096

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Involvement in disease
Dowling-Degos disease 4 (DDD4); Limb-girdle muscular dystrophy 2Z (LGMD2Z)
Subcellular Location
Endoplasmic reticulum lumen.
Protein Families
Glycosyltransferase 90 family
Tissue Specificity
Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. E
Database Links

HGNC: 22954

OMIM: 615618

KEGG: hsa:56983

STRING: 9606.ENSP00000295588

UniGene: Hs.231750

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