Official symbol | PTEN |
Gene id | 5728 |
Organism | Homo sapiens |
Official full symbol | phosphatase and tensin homolog |
Gene type | protein-coding |
Also known as | 10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, PTENbeta, TEP1 |
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. |
Genomic regions | Chromosome 10 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
PTEN-201 | ENST00000371953.8 | 8515 | 403aa | Protein coding | CCDS31238 | P60484-1 | NM_000314.8 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
PTEN-203 | ENST00000472832.2 | 644 | 153aa | Protein coding | - | A0A087X033 | - | CDS 5' incomplete, TSL:2, |
PTEN-206 | ENST00000618586.1 | 1581 | No protein | Processed transcript | - | - | - | TSL:NA, |
PTEN-204 | ENST00000487939.1 | 477 | No protein | Processed transcript | - | - | - | TSL:3, |
PTEN-205 | ENST00000498703.1 | 554 | No protein | Retained intron | - | - | - | TSL:2, |
PTEN-202 | ENST00000462694.1 | 383 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | PTEN |
This KO Strategy | loading |
Red Cotton™ Notes | Gene PTEN had been KO in hela cell line. |
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