PTEN R130G [cytosol]

Stable Identifier
R-HSA-2317339
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
PTEN Arg130Gly
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PTEN R130G [cytosol] icon
PTEN R130G [cytosol] icon
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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

Olszewski, W, Paszko, Z, Janiec-Jankowska, A, Bidziński, M, Czapczak, D, Konopka, B, 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

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
9326929 PTEN1 is frequently mutated in primary endometrial carcinomas

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

Nat. Genet. 1997
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
UniProt:P60484 PTEN
Gene Names
PTEN, MMAC1, TEP1
Chain
initiator methionine:, chain:2-403
Reference Genes
COSMIC (genes):PTEN PTEN
COSMIC (genes):TEP1 PTEN
dbSNP Gene:5728 PTEN
ENSEMBL:ENSG00000171862 PTEN
Participates
as a member of
Other forms of this molecule
K48polyUb-PTEN [cytosol]
PolyUb-PTEN [nucleoplasm]
PTEN H93R [cytosol]
PTEN C124R [cytosol]
PTEN H93Y [cytosol]
PTEN H93D [cytosol]
PTEN R130L [cytosol]
PTEN H93A [cytosol]
PTEN G129E [cytosol]
PTEN S170N [cytosol]
PTEN R173P [cytosol]
PTEN R130Q [cytosol]
PTEN H93Q [cytosol]
PTEN G129R [cytosol]
PTEN H123Y [cytosol]
PTEN S170R [cytosol]
PTEN R173C [cytosol]
PTEN R173H [cytosol]
PTEN C124S [cytosol]
PTEN C124Y [cytosol]
PTEN R130P [cytosol]
PTEN C124F [cytosol]
PTEN G129V [cytosol]
PTEN S170I [cytosol]
PTEN S170G [cytosol]
PTEN E99* [cytosol]
PTEN G165* [cytosol]
PTEN E157* [cytosol]
PTEN E150* [cytosol]
PTEN E43* [cytosol]
PTEN Q17* [cytosol]
PTEN E91* [cytosol]
PTEN S59* [cytosol]
PTEN E114* [cytosol]
PTEN L139* [cytosol]
PTEN Y176* [cytosol]
PTEN Y177* [cytosol]
PTEN Q149* [cytosol]
PTEN L146* [cytosol]
PTEN G20* [cytosol]
PTEN G127* [cytosol]
PTEN Y46* [cytosol]
PTEN L182* [cytosol]
PTEN Q97* [cytosol]
PTEN Q171* [cytosol]
PTEN G129* [cytosol]
PTEN E18* [cytosol]
PTEN Y180* [cytosol]
PTEN K163* [cytosol]
PTEN Y27* [cytosol]
PTEN Y65* [cytosol]
PTEN Y68* [cytosol]
PTEN K128* [cytosol]
PTEN Y138* [cytosol]
PTEN K125* [cytosol]
PTEN Y88* [cytosol]
PTEN Q110* [cytosol]
PTEN L23* [cytosol]
PTEN E7* [cytosol]
PTEN C105* [cytosol]
PTEN E73* [cytosol]
PTEN K62* [cytosol]
PTEN E40* [cytosol]
PTEN Y178* [cytosol]
PTEN R130* [cytosol]
PTEN W111* [cytosol]
PTEN R11* [cytosol]
PTEN K13* [cytosol]
PTEN Y174* [cytosol]
PTEN K147* [cytosol]
PTEN R84* [cytosol]
PTEN G293* [cytosol]
PTEN S287* [cytosol]
PTEN Q214* [cytosol]
PTEN S229* [cytosol]
PTEN Q219* [cytosol]
PTEN Q261* [cytosol]
PTEN E299* [cytosol]
PTEN Y336* [cytosol]
PTEN Q245* [cytosol]
PTEN Y225* [cytosol]
PTEN Y240* [cytosol]
PTEN C218* [cytosol]
PTEN C250* [cytosol]
PTEN L247* [cytosol]
PTEN G209* [cytosol]
PTEN C211* [cytosol]
PTEN G230* [cytosol]
PTEN Q298* [cytosol]
PTEN L320* [cytosol]
PTEN E242* [cytosol]
PTEN K332* [cytosol]
PTEN E284* [cytosol]
PTEN E291* [cytosol]
PTEN K330* [cytosol]
PTEN E314* [cytosol]
PTEN Y346* [cytosol]
PTEN C296* [cytosol]
PTEN W274* [cytosol]
PTEN R233* [cytosol]
PTEN R335* [cytosol]
PTEN [cytosol]
PTEN [nucleoplasm]
MonoUb-K13,K289-PTEN [nucleoplasm]
MonoUb-K13,K289-PTEN [cytosol]
K48polyUb-K289-PTEN [cytosol]
PolyUb-PTEN [cytosol]
K27polyUb-PTEN [cytosol]
p-3S,2T-PTEN [cytosol]
RibC-E40,E150,D326-PTEN [cytosol]
PolyUb-K324,K344,K349-RibC-E40,E150,D326-PTEN [cytosol]
p-Y336-PTEN [cytosol]
PTEN K344* [cytosol]
PTEN K221* [cytosol]
PTEN E288* [cytosol]
PTEN E235* [cytosol]
PTEN K263* [cytosol]
PTEN E307* [cytosol]
PTEN R189* [cytosol]
PTEN E256* [cytosol]
Modified Residues
Name
L-arginine 130 replaced with glycine
Coordinate
130
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
glycine residue [MOD:00017]
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 multiforme DOID:3068 GBM, adult glioblastoma multiforme, grade IV adult Astrocytic tumor, primary glioblastoma multiforme, spongioblastoma multiforme
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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