Recombinant Human KTELC1 Protein, GST-tagged

• Cat.No.: KTELC1-4791H
• Product Overview: Human KTELC1 full-length ORF (BAC11625.1, 1 a.a. - 392 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 72.6 kDa
• AA Sequence: MEWWASSPLRLWLLLFLLPSAQGRQ KESGSKWKVFIDQINRSLENYEPCS SQNCSCYHGVIEEDLTPFRGGISRK MMAEVVRRKLGTHYQITKNRLYREN DCMFPSRCSGVEHFILEVIGRLPDM EMVINVRDYPQVPKWMEPAIPVFSF SKTSEYHDIMYPAWTFWEGGPAVWP IYPTGLGRWDLFREDLVRSAAQWPW KKKNSTAYFRGSRTSPERDPLILLS RKNPKLVDAEYTKNQAWKSMKDTLG KPAAKDVHLVDHCKYKYLFNFRGVA ASFRFKHLFLCGSLVFHVGDEWLEF FYPQLKPWVHYIPVKTDLSNVQELL QFVKANDDVAQEIAERGSQFIRNHL QMDDITCYWENLLSEYSKFLSYNVT RRKGYDQIIPKMLKTEL
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: POGLUT1 protein O-glucosyltransferase 1 [ Homo sapiens (human) ]
• Official Symbol: KTELC1
• Synonyms: POGLUT1; protein O-glucosyltransferase 1; Rumi; CLP46; MDSRP; C3orf9; KTELC1; LGMD2Z; MDS010; hCLP46; KDELCL1; protein O-glucosyltransferase 1; 9630046K23Rik; CAP10-like 46 kDa protein; KDELC family like 1; KTEL (Lys-Tyr-Glu-Leu) containing 1; KTEL motif-containing protein 1; O-glucosyltransferase Rumi homolog; hRumi; myelodysplastic syndromes relative protein; protein O-xylosyltransferase; protein O-xylosyltransferase POGLUT1; x 010 protein; EC 2.4.2.26
• Gene ID: 56983
• mRNA Refseq: NM_152305
• Protein Refseq: NP_689518
• MIM: 615618
• UniProt ID: Q8NBL1