PTEN R130G

Stable Identifier
R-HSA-2317339
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
PTEN Arg130Gly
Locations in the PathwayBrowser
Summation

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).

External Reference Information
External Reference
Gene Names
PTEN, MMAC1, TEP1
Chain
initiator methionine:1, chain:2-403
Other Identifiers
0000840347
00562+3.1.3.67
04070+3.1.3.67
04658+3.1.3.16
04660+3.1.3.16
11719323_at
11719324_x_at
11757445_s_at
11758421_s_at
1434_at
1D5R
204053_x_at
204054_at
211711_s_at
217492_s_at
225363_at
228006_at
2KYL
31335
31675_s_at
3203667
3203670
3203671
3203672
3203673
3203674
3256701
3256702
3256703
3256704
3256705
3256706
3256707
3256708
3256709
3256710
3256711
3256725
3256736
3256738
3256739
3256740
3256764
3256767
3256772
3256773
3256777
3256778
3256779
3256780
3256781
3256782
3256783
3256784
3727827
39552_at
4076
4O1V
56027_at
5728
58901_at
5BUG
5BZX
5BZZ
64073_at
7928959
8160718
90129_at
A_23_P98085
A_24_P252785
A_24_P913115
AAB66902
AAC08699
AAC51182
AAC51183
AAD13528
AAD38372
AAH05821
AAY57327
ADM26753
ADM26754
ADM26755
ADM26756
ADM26759
ADZ48535
AF000726
AF000727
AF000728
AF000729
AF000730
AF000731
AF000732
AF000733
AF000734
AF067844
AF143312
AF143313
AF143314
AF143315
AHW56562
AK313581
BAG36351
BC005821
CAB004076
CAG29302
CCDS31238
CH471066
CR450306
DQ073384
EAW50174
ENSG00000171862
ENSP00000361021
ENST00000371953
EntrezGene:5728
F6KD01
g13543309_3p_s_at
g4506248_3p_at
GE480829
GE59570
GE88557
GO:0000003
GO:0000079
GO:0000278
GO:0000287
GO:0000902
GO:0001525
GO:0001933
GO:0002902
GO:0003674
GO:0004438
GO:0004721
GO:0004722
GO:0004725
GO:0005161
GO:0005515
GO:0005575
GO:0005576
GO:0005622
GO:0005623
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0005829
GO:0005886
GO:0005975
GO:0006464
GO:0006470
GO:0006629
GO:0006661
GO:0006810
GO:0006915
GO:0006950
GO:0007009
GO:0007049
GO:0007155
GO:0007165
GO:0007267
GO:0007270
GO:0007399
GO:0007416
GO:0007417
GO:0007507
GO:0007568
GO:0007584
GO:0007611
GO:0007613
GO:0007626
GO:0008138
GO:0008150
GO:0008219
GO:0008283
GO:0008284
GO:0008285
GO:0008289
GO:0009056
GO:0009058
GO:0009749
GO:0009898
GO:0010033
GO:0010035
GO:0010043
GO:0010628
GO:0010666
GO:0010719
GO:0010975
GO:0010997
GO:0014067
GO:0014070
GO:0014823
GO:0016192
GO:0016311
GO:0016314
GO:0016324
GO:0016477
GO:0016579
GO:0016605
GO:0016787
GO:0016791
GO:0019899
GO:0019901
GO:0021542
GO:0021700
GO:0021955
GO:0022607
GO:0030154
GO:0030165
GO:0030336
GO:0030534
GO:0031175
GO:0031642
GO:0031647
GO:0031658
GO:0032228
GO:0032286
GO:0032355
GO:0032535
GO:0032869
GO:0033032
GO:0033198
GO:0033555
GO:0034330
GO:0034641
GO:0035176
GO:0035255
GO:0035335
GO:0035749
GO:0036294
GO:0040007
GO:0040011
GO:0042254
GO:0042493
GO:0042711
GO:0042802
GO:0042995
GO:0043005
GO:0043065
GO:0043066
GO:0043167
GO:0043197
GO:0043220
GO:0043226
GO:0043491
GO:0043542
GO:0043647
GO:0044281
GO:0044320
GO:0045211
GO:0045471
GO:0045475
GO:0045666
GO:0045792
GO:0046621
GO:0046685
GO:0046855
GO:0046856
GO:0048008
GO:0048646
GO:0048679
GO:0048681
GO:0048738
GO:0048853
GO:0048854
GO:0048856
GO:0048870
GO:0050680
GO:0050765
GO:0050771
GO:0050821
GO:0050877
GO:0051091
GO:0051548
GO:0051717
GO:0051726
GO:0051800
GO:0051895
GO:0051898
GO:0055085
GO:0060024
GO:0060044
GO:0060070
GO:0060074
GO:0060134
GO:0060179
GO:0060291
GO:0060292
GO:0060341
GO:0060736
GO:0060997
GO:0061002
GO:0061024
GO:0070373
GO:0070374
GO:0071257
GO:0071361
GO:0071456
GO:0090071
GO:0090344
GO:0090394
GO:0097105
GO:0097107
GO:1901017
GO:1903690
GO:1903984
GO:1904668
GO:1990090
GO:1990314
GO:1990381
GO:1990782
GO:2000060
GO:2000134
GO:2000272
GO:2000463
GO:2000808
GO:2001235
HGNC:9588
HM849628
HM849629
HM849630
HM849631
HM849634
HPA031335
Hs.278506.0.S1_3p_s_at
Hs.27865.0.S1_3p_at
Hs.98267.0.A1_3p_at
ILMN_1701134
ILMN_1869718
ILMN_1880406
IPR000340
IPR003595
IPR014020
IPR016130
IPR017361
IPR029021
IPR029023
IPR035892
JF268690
KJ534922
LRG_311
MIM:153480
MIM:155600
MIM:158350
MIM:176807
MIM:188470
MIM:275355
MIM:276950
MIM:601728
MIM:605309
MIM:607174
MIM:608089
MIM:613028
NM_000314
NM_001304717
NP_000305
NP_001291646
PF00782
PF10409
PH_hs_0040986
PTEN
PTEN-201
SM00404
SM01301
SM01326
TC10000623.hg
U92436
U92436_at
U93051
U96180
uc001kfb.4
UPI00001328C5
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 130 replaced with glycine
Coordinate
130
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to a glycine.
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
lung cancer 1324
endometrial cancer 1380 primary malignant neoplasm of endometrium, neoplasm of endometrium (disorder), endometrial neoplasm, malignant endometrial neoplasm, endometrial Ca, malignant neoplasm of endometrium, tumor of Endometrium
ovarian endometrioid neoplasm 6212 malignant ovarian endometrioid tumor, endometrioid neoplasm of Ovary
cancer 162 malignant tumor, malignant neoplasm, primary cancer
adult glioblastoma multiforme 3075 grade IV adult Astrocytic tumor
Cross References
COSMIC
GeneCards
DOCK Blaster
ZINC target
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein
PDB
Interactors (23)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:O14745 NHRF1      0.771 7
 UniProt:P09619 PDGFRB  3 0.702 3
 UniProt:P42685 FRK  4 0.639 7
 UniProt:Q15599 NHRF2      0.639 5
 UniProt:Q5TCQ9 MAGI3      0.633 6
 UniProt:P60484 PTEN  41 0.632 9
 UniProt:Q06830 PRDX1  3 0.632 7
 UniProt:P30260 CDC27  2 0.616 7
 UniProt:O43791 SPOP  1 0.611 4
 UniProt:P35226 BMI1  3 0.61 7
 UniProt:O60307 MAST3      0.593 3
 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:P62136 PPP1CA  1 0.524 2
 UniProt:Q9JHL1 NHRF2      0.524 2
 UniProt:Q16643 DREB      0.524 5
 UniProt:Q9JK71 MAGI3      0.508 3
 UniProt:Q03135 CAV1  5 0.499 2
 UniProt:Q9UJX3 ANAPC7  2 0.462 2
 UniProt:Q9UJX5 ANAPC4  2 0.462 2
 UniProt:Q9UJX4 ANAPC5  2 0.462 2