PTEN
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- BZS
- MGC11227
- MHAM
- MMAC1
- PTEN1
- TEP1
- Bannayan-Zonana syndrome
- Human mutated in multiple advanced cancers protein
(MMAC1) mRNA, complete cds
- MMAC1 phosphatase and tension homolog deleted on
chromosome 10
- multiple hamartoma (Cowden syndrome)
- mutated in multiple advanced cancers 1
- phosphatase and tensin homolog (mutated in multiple
advanced cancers 1)
- Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase
PTEN (EC 3.1.3.67) (Mutated in
multiple advanced cancers 1).
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This gene was
identified as a tumor suppressor that is mutated in a large number of
cancers at high frequency. The protein encoded this gene is a
phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a
tension 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.
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- Location:10q23.3
- Orientation:
Plus strand
- Size:102,936
bases
- 9 Exons
- DNA Sequence:
NT_030059

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- Mutations and SNPs
(According to
HGMD and
SNP)
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- Size:403
amino acids; 47166 Da
- Catalytic activity:Phosphatidylinositol-3,4,5-trisphosphate
+ H(2)O = phosphatidylinositol-4,5-bisphosphate + phosphate.
- Protein domains:
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