KTEL1 (POGLUT1) (NM_152305) Human Mass Spec Standard

CAT#: PH305992

KTELC1 MS Standard C13 and N15-labeled recombinant protein (NP_689518)

  View other "POGLUT1" proteins (7)

USD 2,055.00

3 Weeks*

Size
    • 10 ug

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Specifications

Product Data
Tag C-Myc/DDK
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence RC205992
Predicted MW 46.2 kDa
Protein Sequence
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration 50 ug/ml as determined by BCA
Labeling Method Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer 100 mM glycine, 25 mM Tris-HCl, pH 7.3. Store at -80°C. Avoid repeated freeze-thaw cycles. Stable for 3 months from receipt of products under proper storage and handling conditions.
Reference Data
RefSeq NP_689518
RefSeq Size 3552
RefSeq ORF 1176
Synonyms C3orf9; CLP46; hCLP46; KDELCL1; KTELC1; LGMD2Z; LGMDR21; MDS010; MDSRP; Rumi
Locus ID 56983
UniProt ID Q8NBL1
Cytogenetics 3q13.33
Summary 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]

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