Von Hippel Lindau (VHL) (NM_000551) Human Mass Spec Standard

Specifications

Product Data
Description	VHL MS Standard C13 and N15-labeled recombinant protein (NP_000542)
Species	Human
Expression Host	HEK293
Expression cDNA Clone or AA Sequence	RC216151
Predicted MW	24 kDa
Protein Sequence	Sequence Link (showhide) >RC216151 representing NM_000551 Red=Cloning site Green=Tags(s) MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPRPVLRSVNSRE PSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFRDAGTHDGLLVNQTELFVPSL NVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDIVRSLYEDLEDHPNVQKDLERLTQERIAHQR MGD 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_000542
RefSeq Size	2968
RefSeq ORF	639
Synonyms	HRCA1; pVHL; RCA1; VHL1
Locus ID	7428
Cytogenetics	3p25.3
Summary	Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Protein Families	Druggable Genome, Transcription Factors
Protein Pathways	Pathways in cancer, Renal cell carcinoma, Ubiquitin mediated proteolysis

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