PTEN R130Q [cytosol]

Stable Identifier
R-HSA-2317416
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
PTEN Arg130Gln
PTEN R130Q [cytosol] icon
Locations in the PathwayBrowser
General
PTEN missense mutation that results in the substitution of arginine at position 130 with glutamine 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 R130Q (Arg130Gln) mutant shows markedly decreased phosphoinositide phosphatase activity (Han et al. 2000). PTEN R130Q substitution is frequently found in endometrial cancer (Konopka et al. 2007).
Literature References
PubMed ID Title Journal Year
17219201 Molecular genetic defects in endometrial carcinomas: microsatellite instability, PTEN and beta-catenin (CTNNB1) genes mutations

Olszewski, W, Paszko, Z, Janiec-Jankowska, A, BidziƄski, M, Czapczak, D, Konopka, B, Goluda, C

J. Cancer Res. Clin. Oncol. 2007
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
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 130 replaced with L-glutamine
Coordinate
130
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Disease
Name Identifier Synonyms
endometrial cancer DOID:1380 primary malignant neoplasm of endometrium, neoplasm of endometrium (disorder), endometrial neoplasm, malignant endometrial neoplasm, endometrial Ca, malignant neoplasm of endometrium, tumor of Endometrium
histiocytoma DOID:4231 Histiocytoma, NOS, histiocytoma, Histiocytoma (morphologic abnormality)
ovarian cancer DOID:2394 ovarian neoplasm, malignant tumour of ovary, neoplasm of ovary (disorder), ovary neoplasm, primary malignant neoplasm of ovary and other uterine adnexa (disorder), ovarian cancer, tumor of the Ovary, ovary cancer, malignant Ovarian tumor, primary ovarian cancer, malignant tumor of ovary (disorder)
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
thyroid cancer DOID:1781 Thyroid gland neoplasm, thyroid cancer, thyroid neoplasm, neoplasm of thyroid gland, thyroid neoplasm, Thyroid neoplasm, malignant tumour of thyroid gland, malignant neoplasm of thyroid gland
breast cancer DOID:1612 malignant tumor of the breast, mammary cancer, malignant neoplasm of breast, mammary tumor, primary breast cancer, breast cancer, Ca breast - NOS, breast tumor
brain glioma DOID:0060108
large intestine cancer DOID:5672 malignant Colorectal tumor, malignant neoplasm of large intestine, NOS, malignant tumor of large intestine (disorder), malignant neoplasm of colon with rectum, malignant neoplasm of large intestine NOS
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:Q9JHL1 NHRF2      0.524 2
 UniProt:P62136 PPP1CA  1 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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