PTEN

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PTEN
PTEN
Belt model according to PDB  1D5R
Properties of human protein
Mass / length primary structure 403 amino acids
Secondary to quaternary structure Monomer
Cofactor magnesium
Identifier
Gene names PTEN  ; BZS; MGC11227; MHAM; MMAC1; PTEN1; TEP1
External IDs
Enzyme Classifications
EC, category 3.1.3.16 ,  phosphatase
Response type Hydrolysis of a phosphoric acid ester
Substrate Phosphoprotein + H 2 O
Products Protein + phosphate
EC, category 3.1.3.43 ,  phosphatase
Response type Hydrolysis of a phosphoric acid ester
Substrate Protein tyrosine phosphate + H 2 O
Products Protein tyrosine + phosphate
EC, category 3.1.3.67 ,  phosphatase
Response type Hydrolysis of a phosphoric acid ester
Substrate Phosphatidylinositol-3,4,5-trisphosphate + H 2 O
Products Phosphatidylinositol-4,5-bisphosphate + phosphate
Occurrence
Homology family PIP3 phosphatase
Parent taxon Eukaryotes
Orthologue
human House mouse
Entrez 5728 19211
Ensemble ENSG00000171862 ENSMUSG00000013663
UniProt P60484 O08586
Refseq (mRNA) NM_000314 NM_008960
Refseq (protein) NP_000305 NP_032986
Gene locus Chr 10: 87.86 - 87.97 Mb Chr 19: 32.76 - 32.83 Mb
PubMed search 5728 19211

The phosphatase PTEN ( Phosphatase and Tensin homolog ) is a multifunctional enzyme in eukaryotes . It catalyzes the hydrolysis of various phosphoric acid esters ( phospholipids and phosphoproteins ). In particular, the signal-transmitting molecules PIP 3 , PIP 2 , PIP 1 , Ins (1,3,4,5) P 4 and AKT1 are substrates of the PTEN. As a result of these interventions in the body's signaling pathways , PTEN is part of signal transduction . In the normal cell state, the activity of the phosphatase PTEN is suppressed by TGF-β . This prevents cell death . PTEN acts unchecked as a tumor suppressor by inducing cell death . Mutations in the PTEN gene and thus defects in the PTEN enzyme can promote a large number of tumors and cause diseases through uncontrolled cell proliferation.

function

Activated PTEN interrupts the PI3K- AKT / PKB signaling pathway through dephosphorylation of phosphatidylinositol phosphates (especially IP 3 ) and acts as a tumor suppressor . It inhibits the phosphorylation of Shc and disrupts the MAP kinase pathway . It dephosphorylates FAK and thus interrupts further signaling pathways, with the result that cell migration and cell division are prevented.

PTEN hamartoma tumor syndrome

The rare hereditary diseases caused by defects in PTEN are summarized as PTEN hamartoma tumor syndrome and comprise a group of overlapping heterogeneous syndromes that have an autosomal dominant PTEN mutation . Due to an incomplete and age-dependent penetrance and different levels of gene expression , the clinical pictures show an extremely high degree of symptom heterogeneity. In addition, the previously known mutations are scattered across the entire gene, which is also held responsible for the heterogeneity.

This includes:

If a PTEN mutation is present, tumors such as endometrial carcinoma and prostate carcinoma are favored.

Individual evidence

  1. ↑ Orthologists at inParanoid
  2. ↑ Li et al .: PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 275/5308/ 1997 : 1943-1947. PMID 9072974
  3. ↑ a b UniProt P60484
  4. ↑ NR Leslie, N. Kriplani, MA Hermida, V. Alvarez-Garcia, HM Wise: The PTEN protein: cellular localization and post-translationally regulation. In: Biochemical Society transactions. Volume 44, Number 1, February 2016, pp. 273-278, doi : 10.1042 / BST20150224 , PMID 26862215 .
  5. ↑ M. Shih / Biocarta: PTEN dependent cell cycle arrest and apoptosis
  6. ↑ Erik K. Alexander, Gayun Chan-Smutko, Mansi A. Saksena, Ion Popa: Case 19-2013 - A 35-Year-Old Woman with Recurrent Goiter and Ductal Carcinoma of the Breast. New England Journal of Medicine 2013; Volume 368, Issue 25 of June 20, 2013, pages 2416-2424; doi: 10.1056 / NEJMcpc1209273 .
  7. ↑ PTEN hamartoma tumor syndrome. In: Orphanet (Rare Disease Database).

Web links

Wikibooks: Inositol Phosphate Metabolism  - Learning and Teaching Materials