PTEN R130G [cytosol]

Stable Identifier
R-HSA-2317339
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
PTEN Arg130Gly
PTEN R130G [cytosol] icon
Locations in the PathwayBrowser
General
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).
Literature References
PubMed ID Title Journal Year
17219201 Molecular genetic defects in endometrial carcinomas: microsatellite instability, PTEN and beta-catenin (CTNNB1) genes mutations

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

J. Cancer Res. Clin. Oncol. 2007
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

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

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

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

Cell 1999
9326929 PTEN1 is frequently mutated in primary endometrial carcinomas

Kong, D, Suzuki, A, Zou, TT, Sakurada, A, Kemp, LW, Wakatsuki, S, Yokoyama, T, Yamakawa, H, Furukawa, T, Sato, M, Ohuchi, N, Sato, S, Yin, J, Wang, S, Abraham, JM, Souza, RF, Smolinski, KN, Meltzer, SJ, Horii, A

Nat. Genet. 1997
11948419 Motif analysis of the tumor suppressor gene MMAC/PTEN identifies tyrosines critical for tumor suppression and lipid phosphatase activity

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

Oncogene 2002
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 130 replaced with glycine
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 a glycine.
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
lung cancer DOID:1324
ovarian endometrioid neoplasm DOID:6212 malignant ovarian endometrioid tumor, endometrioid neoplasm of Ovary
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
glioblastoma DOID:3068 GBM, adult glioblastoma multiforme, grade IV adult Astrocytic tumor, primary glioblastoma multiforme, spongioblastoma multiforme
Interactors (46)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:O14745 NHRF1      0.826 9
 UniProt:Q5TCQ9 MAGI3      0.747 9
 UniProt:Q15599 NHRF2      0.733 6
 UniProt:P60484 PTEN  20 0.713 19
 UniProt:O60307 MAST3      0.698 4
 UniProt:P09619 PDGFRB  3 0.675 3
 UniProt:P42685 FRK  4 0.639 7
 UniProt:Q06830 PRDX1  4 0.632 7
 UniProt:P30260 CDC27  2 0.616 7
 UniProt:Q6P0Q8 MAST2      0.611 4
 UniProt:Q9NZN5-2 ARHGEF12      0.611 4
 UniProt:Q92743 HTRA1  1 0.611 4
 UniProt:Q9H5P4 PDZD7      0.611 4
 UniProt:A4D2P6 GRD2I      0.611 4
 UniProt:Q9HD26 GOPC  3 0.611 4
 UniProt:O43791 SPOP  3 0.611 4
 UniProt:Q14160 SCRIB  1 0.611 4
 UniProt:Q9Y2H9 MAST1      0.611 4
 UniProt:Q86UL8 MAGI2  1 0.611 6
 UniProt:Q9NY99 SNTG2  1 0.611 3
 UniProt:Q96L92 SNX27      0.611 4
 UniProt:Q13424 SNTA1  1 0.611 4
 UniProt:Q13884 SNTB1  1 0.611 5
 UniProt:P35226 BMI1  3 0.61 7
 UniProt:Q9R1L5 MAST1      0.593 3
 UniProt:Q60592 MAST2      0.593 4
 UniProt:P46934 NEDD4  1 0.591 4
 UniProt:O88382 MAGI2      0.581 3
 UniProt:O75970 MPDZ      0.544 4
 UniProt:Q96QZ7 MAGI1      0.544 5
 UniProt:Q15700 DLG2  2 0.544 2
 UniProt:Q8NI35 PATJ  1 0.544 3
 UniProt:P62136 PPP1CA  2 0.524 2
 UniProt:Q9JHL1 NHRF2      0.524 2
 UniProt:P21860 ERBB3      0.519 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:P08238 HSP90AB1  6 0.483 2
 UniProt:Q9UER7 DAXX  13 0.483 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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