PTEN S170R [cytosol]

Stable Identifier
R-HSA-2318437
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
PTEN Ser170Arg
PTEN S170R [cytosol] icon
Locations in the PathwayBrowser
General
PTEN missense mutation that results in the substitution of serine at position 170 with arginine affects the phosphatase domain of PTEN. Serine residue S170 is involved in the formation of intedomain hydrogen bonds between the phosphatase domain and the membrane-binding C2 domain (Lee et al. 1999). PTEN S170R (Ser170Arg) mutant shows markedly decreased phosphoinositide phosphatase activity (Han et al. 2000). PTEN S170R is found as a germline mutation in Bannayan-Riley-Ruvalcaba familial cancer syndrome (Marsh et al. 1997).
Literature References
PubMed ID Title Journal Year
9467011 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

Lunetta, KL, Marsh, DJ, Richardson, AL, Coulon, V, Chompret, A, Eeles, RA, Bressieux, JM, Fearon, ER, Dahia, PL, Lin, AY, Demange, L, Liaw, D, Cabarrot-Moreau, A, Huson, S, Hodgson, SV, Yahanda, AM, Lacombe, D, Gorlin, RJ, Rocca-Serra, P, Zheng, Z, Duboué, B, Bonnetblanc, JM, Caron, S, Fricker, JP, Eng, C

Hum. Mol. Genet. 1998
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
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-serine 170 replaced with L-arginine
Coordinate
170
PsiMod
A protein modification that effectively removes or replaces an L-serine.
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Disease
Name Identifier Synonyms
Bannayan-Riley-Ruvalcaba syndrome DOID:0050657 BANNAYAN-ZONANA SYNDROME, RILEY-SMITH SYNDROME, RUVALCABA-MYHRE-SMITH SYNDROME
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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
Cite Us!