Search results for P60484

Showing 12 results out of 42

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Results (12 results from a total of 42)

Identifier: R-HSA-2318544
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: P60484
PTEN missense mutation that results in the substitution of histidine at position 93 with alanine affects the conserved WPD loop of the phosphatase domain of PTEN. PTEN H93A (His93Ala) mutant shows markedly decreased phosphoinositide phosphatase activity (Lee et al. 1999).
Identifier: R-HSA-2317430
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: P60484
PTEN missense mutation that results in the substitution of arginine at position 130 with leucine affects the conserved H-C-K/R-A-G-K-G-R sequence (corresponding to HCXXGXXR motif of protein tyrosine phosphatases) in the catalytic cleft of the PTEN phosphatase domain. The arginine residue in this motif, corresponding to R130 of human PTEN, is essential for catalysis (Barford et al. 1994, Lee et al. 1999). PTEN R130L (Arg130Leu) mutant shows markedly decreased phosphoinositide phosphatase activity (Han et al. 2000). PTEN R130L is found as a germline mutation in Cowden syndrome, an autosomal dominant cancer syndrome (Marsh et al. 1998).
Identifier: R-HSA-2318550
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: P60484
PTEN missense mutation that results in the substitution of histidine at position 93 with aspartic acid affects the conserved WPD loop of the phosphatase domain of PTEN. PTEN H93D (His93Asp) mutant shows markedly decreased phosphoinositide phosphatase activity (Rodriguez-Escudero et al. 2011).
Identifier: R-HSA-2317339
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: P60484
PTEN missense mutation that results in the substitution of arginine at position 130 with glycine affects the conserved H-C-K/R-A-G-K-G-R sequence (corresponding to HCXXGXXR motif of protein tyrosine phosphatases) in the catalytic cleft of the PTEN phosphatase domain. The arginine residue in this motif, corresponding to R130 of human PTEN, is essential for catalysis (Barford et al. 1994, Lee et al. 1999). PTEN R130G (Arg130Gly) mutant shows markedly decreased phosphoinositide phosphatase activity (Han et al. 2000, Koul et al. 2002). PTEN R130G substitution is frequently found in endometrial carcinoma (Kong et al. 1997, Konopka et al. 2007).
Identifier: R-HSA-2318520
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: P60484
PTEN missense mutation that results in the substitution of histidine at position 93 with tyrosine affects the phosphatase domain of PTEN. PTEN H93Y (His93Tyr) mutant shows markedly decreased phosphoinositide phosphatase activity (Han et al. 2000).
Identifier: R-HSA-2317439
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: P60484
PTEN missense mutation that results in the substitution of cysteine at position 124 with arginine affects the conserved H-C-K/R-A-G-K-G-R sequence (corresponding to HCXXGXXR motif of protein tyrosine phosphatases) in the catalytic cleft of the PTEN phosphatase domain. The cystein residue in this motif, corresponding to C124 of human PTEN, 'attacks' the phosphate group of a substrate and forms a thio-phosphate intermediate during dephosphorylation reaction (Guan and Dixon 1991, Barford et al. 1994, Lee et al. 1999). PTEN C124R (Cys124Arg) mutant shows markedly decreased phosphoinositide phosphatase activity (Han et al. 2000). PTEN C124R is found as a germline mutation in Cowden syndrome, an autosomal dominant cancer syndrome (Nelen et al. 1997).
Identifier: R-HSA-2318524
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: P60484
PTEN missense mutation that results in the substitution of histidine at position 93 with arginine affects the conserved WPD loop of the phosphatase domain of PTEN. PTEN H93R (His93Arg) mutant shows markedly decreased phosphoinositide phosphatase activity (Redfern et al. 2010). PTEN H93R substituion is implicated in autism spectrum disorders (Butler et al. 2005).
Identifier: R-HSA-6782515
Species: Homo sapiens
Compartment: nucleoplasm
Primary external reference: UniProt: PTEN: P60484
Identifier: R-HSA-8874327
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: P60484
Identifier: R-HSA-199420
Species: Homo sapiens
Compartment: cytosol
Primary external reference: UniProt: PTEN: P60484
Identifier: R-HSA-6807273
Species: Homo sapiens
Compartment: nucleoplasm
Primary external reference: UniProt: PTEN: P60484
Identifier: R-HSA-5690148
Species: Homo sapiens
Compartment: nucleoplasm
Primary external reference: UniProt: P60484