KTEL1 (POGLUT1) (NM_152305) Human Mass Spec Standard

Specifications

Product Data
Description	KTELC1 MS Standard C13 and N15-labeled recombinant protein (NP_689518)
Species	Human
Expression Host	HEK293
Expression cDNA Clone or AA Sequence	RC205992
Predicted MW	46.2 kDa
Protein Sequence	Sequence Link (showhide) >RC205992 protein sequence Red=Cloning site Green=Tags(s) MEWWASSPLRLWLLLFLLPSAQGRQKESGSKWKVFIDQINRSLENYEPCSSQNCSCYHGVIEEDLTPFRG GISRRMMAEVVRRKLGTHYQITKNRLYRENDCMFPSRCSGVEHFILEVIGRLPDMEMVINVRDYPQVPKW MEPAIPVFSFSKTSEYHDIMYPAWTFWEGGPAVWPIYPTGLGRWDLFREDLVRSAAQWPWKKKNSTAYFR GSRTSPERDPLILLSRKNTKLVDAEYTKNQAWKSMKDTLGKPAAKDVHLVDHCKYKYLFNFRGVAASFRF KHLFLCGSLVFHVGDEWLEFFYPQLKPWVHYIPVKTDLSNVQELLQFVKANDDVAQEIAERGSQFIRNHL QMDDITCYWENLLSEYSKFLSYNVTRRKGYDQIIPKMLKTEL TRTRPLEQKLISEEDLAANDILDYKDDDDKV
Tag	C-Myc/DDK
Purity	> 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration	>0.05 µg/µL as determined by microplate BCA method
Labeling Method	Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer	25 mM Tris-HCl, 100 mM glycine, pH 7.3
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
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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