PTEN (NM_000314) Human Mutant ORF Clone

Specifications

Product Data
Product Name	PTEN (NM_000314) Human Mutant ORF Clone
Mutation Description	P247fs*5
Affected Codon#	247
Affected NT#	c.741_742
Nucleotide Mutation	PTEN Mutant (P247fs*5), Myc-DDK-tagged ORF clone of Homo sapiens phosphatase and tensin homolog (PTEN) as transfection-ready DNA
Effect	Frameshift
Synonyms	10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1; PTEN1; PTENbeta; TEP1
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_000314
ORF Size	753 bp
Restriction Sites	SgfI-MluI      Cloning Scheme for this gene
OTI Disclaimer	Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery. The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
OTI Annotation	This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
Reference Data
RefSeq	NP_000305
RefSeq Size	5572 bp
RefSeq ORF	1212 bp
Locus ID	5728
Domains	PTPc_motif
Protein Families	Druggable Genome, Phosphatase
Protein Pathways	Endometrial cancer, Focal adhesion, Glioma, Inositol phosphate metabolism, Melanoma, p53 signaling pathway, Pathways in cancer, Phosphatidylinositol signaling system, Prostate cancer, Small cell lung cancer, Tight junction
MW	29 kDa
Gene Summary	This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]

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