PTEN C124Y [cytosol]

Stable Identifier
R-HSA-2317464
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
PTEN Cys124Tyr
PTEN C124Y [cytosol] icon
Locations in the PathwayBrowser
General
PTEN missense mutation that results in the substitution of cysteine at position 124 with tyrosine 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 C124Y (Cys124Tyr) mutant has not been functionally studied but is assumed to have impaired phosphoinositide phosphatase activity similar to other C124 substitution mutants (Han et al. 2000, Koul et al. 2002).
Literature References
PubMed ID Title Journal Year
1654322 Evidence for protein-tyrosine-phosphatase catalysis proceeding via a cysteine-phosphate intermediate

Guan, KL, Dixon, JE

J. Biol. Chem. 1991
8128219 Crystal structure of human protein tyrosine phosphatase 1B

Barford, D, Flint, AJ, Tonks, NK

Science 1994
10866302 Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay

Kato, H, Shibata, H, Matsuno, S, Shiiba, K, Han, SY, Kato, S, Ishioka, C, Ishii, S, Kanamaru, R, Suzuki, T

Cancer Res 2000
10555148 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association

Georgescu, MM, Pavletich, NP, Shi, Y, Maehama, T, Pandolfi, P, Yang, H, Lee, JO, Dixon, JE, Di Cristofano, A

Cell 1999
11948419 Motif analysis of the tumor suppressor gene MMAC/PTEN identifies tyrosines critical for tumor suppression and lipid phosphatase activity

Yung, WK, Shi, Y, Jasser, SA, Davies, MA, Lu, Y, Koul, D, Mills, GB, Shen, R

Oncogene 2002
External Reference Information
External Reference
Gene Names
PTEN, MMAC1, TEP1
Chain
initiator methionine:, chain:2-403
Participates
Other forms of this molecule
Modified Residues
Name
L-cysteine 124 replaced with L-tyrosine
Coordinate
124
PsiMod
A protein modification that effectively removes or replaces an L-cysteine.
A protein modification that effectively converts a source amino acid residue to L-tyrosine.
Disease
Name Identifier Synonyms
stomach cancer DOID:10534 malignant neoplasm of greater curvature of stomach, unspecified, malignant neoplasm of lesser curvature of stomach, NOS, malignant tumor of body of stomach (disorder), neoplasm of stomach (disorder), Ca lesser curvature - stomach (disorder), malignant neoplasm of greater curve of stomach unspecified (disorder), Ca body - stomach, ca lesser curvature of stomach, ca greater curvature of stomach, malignant neoplasm of lesser curvature of stomach, unspecified, malignant tumor of lesser curve of stomach (disorder), malignant neoplasm of body of stomach, gastric neoplasm, malignant neoplasm of greater curvature of stomach, NOS, Ca body - stomach (disorder), stomach neoplasm, Ca greater curvature - stomach (disorder), malignant neoplasm of lesser curve of stomach unspecified (disorder), malignant tumor of greater curve of stomach (disorder)
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Cross References
COSMIC
Interactors (26)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:O14745 NHRF1      0.771 7
 UniProt:P09619 PDGFRB  3 0.675 3
 UniProt:Q15599 NHRF2      0.639 5
 UniProt:P42685 FRK  4 0.639 7
 UniProt:Q5TCQ9 MAGI3      0.633 6
 UniProt:Q06830 PRDX1  3 0.632 7
 UniProt:P30260 CDC27  2 0.616 7
 UniProt:P60484 PTEN  20 0.615 9
 UniProt:O43791 SPOP  1 0.611 4
 UniProt:P35226 BMI1  3 0.61 7
 UniProt:Q9R1L5 MAST1      0.593 3
 UniProt:O60307 MAST3      0.593 3
 UniProt:Q60592 MAST2      0.593 4
 UniProt:P46934 NEDD4  1 0.591 4
 UniProt:O88382 MAGI2      0.581 3
 UniProt:P62136 PPP1CA  1 0.524 2
 UniProt:Q9JHL1 NHRF2      0.524 2
 UniProt:Q9NRD5 PICK1  2 0.508 2
 UniProt:Q9JK71 MAGI3      0.508 3
 UniProt:Q9P0U4 CXXC1  1 0.508 2
 UniProt:Q03135 CAV1  5 0.499 2
 UniProt:Q9ULX6 AKAP8L  1 0.499 2
 UniProt:Q16643 DBN1  1 0.471 5
 UniProt:Q9UJX3 ANAPC7  2 0.462 2
 UniProt:Q9UJX5 ANAPC4  2 0.462 2
 UniProt:Q9UJX4 ANAPC5  2 0.462 2
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