Reactome | PTEN R130P [cytosol]

PTEN R130P [cytosol]

Stable Identifier

R-HSA-2317432

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

PTEN Arg130Pro

Locations in the PathwayBrowser

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General

PTEN missense mutation that results in the substitution of arginine at position 130 with proline 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 R130P mutant has not been functionally studied but is assumed to have impaired phosphoinositide phosphatase activity, similar to other PTEN R130 substitution mutants (Han et al. 2000).

Literature References

PubMed ID	Title	Journal	Year
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
8128219	Crystal structure of human protein tyrosine phosphatase 1B Barford, D, Flint, AJ, Tonks, NK	Science	1994
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

External Reference Information

External Reference

UniProt:P60484 PTEN

Gene Names

PTEN, MMAC1, TEP1

Chain

initiator methionine:1, chain:2-403

Reference Genes

BioGPS Gene:5728 PTEN

COSMIC (genes):PTEN PTEN

CTD Gene:5728 PTEN

dbSNP Gene:5728 PTEN

ENSEMBL:ENSG00000171862 PTEN

HGNC:9588 PTEN

KEGG Gene (Homo sapiens):5728 PTEN

Monarch:5728 PTEN

NCBI Gene:5728 PTEN

OMIM:601728 PTEN

UCSC:P60484 PTEN

Reference Transcript

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

3256699

3256700

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

3256785

3256790

3727827

39552_at

4076

4O1V

56027_at

5728

58901_at

5BUG

5BZX

5BZZ

64073_at

7928959

8160718

90129_at

A0A087X033

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

ENST00000371953.7

EntrezGene:5728

EntrezGene:PTEN

F6KD01

g13543309_3p_s_at

g4506248_3p_at

GE480829

GE59570

GE88557

GO:0000003

GO:0000079

GO:0000278

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:0006367

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:0010977

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: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:0043197

GO:0043220

GO:0043226

GO:0043491

GO:0043542

GO:0043647

GO:0044281

GO:0044320

GO:0045211

GO:0045471

GO:0045475

GO:0045666

GO:0045736

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:0099524

GO:1901017

GO:1903690

GO:1903984

GO:1904668

GO:1904706

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

JF268690

KJ534922

LRG_311

MIM:158350

MIM:176807

MIM:601728

MIM:605309

MIM:607174

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

UPI00001328C5

Participant Of

hasCandidate

PTEN Phosphatase Domain Missense Mutants [cytosol]

Other forms of this molecule

K48polyUb-PTEN [cytosol]

PTEN [nucleoplasm]

PolyUb-PTEN [nucleoplasm]

PTEN H93R [cytosol]

PTEN C124R [cytosol]

PTEN H93Y [cytosol]

PTEN R130G [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 C124F [cytosol]

PTEN G129V [cytosol]

PTEN S170I [cytosol]

PTEN S170G [cytosol]

PTEN R233* [cytosol]

PTEN R335* [cytosol]

PTEN R130* [cytosol]

p-Y336-PTEN [cytosol]

PolyUb-K324,K344,K349-RibC-E40,E150,D326-PTEN [cytosol]

RibC-E40,E150,D326-PTEN [cytosol]

p-3S,2T-PTEN [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]

Modified Residues

Name

L-arginine 130 replaced with L-proline

Coordinate

130

PsiMod

L-proline residue [MOD:00024]

A protein modification that effectively converts a source amino acid residue to L-proline.

L-arginine removal [MOD:01632]

A protein modification that effectively removes or replaces an L-arginine.

Disease

Name	Identifier	Synonyms
cancer	162	malignant tumor, malignant neoplasm, primary cancer
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
breast cancer	1612	malignant tumor of the breast, mammary cancer, malignant neoplasm of breast, mammary tumor, primary breast cancer, breast cancer, Ca breast - NOS, breast tumor
glioblastoma multiforme	3068	GBM, adult glioblastoma multiforme, grade IV adult Astrocytic tumor, primary glioblastoma multiforme, spongioblastoma multiforme

Cross References

RefSeq

NP_001291647.1, NP_000305.3, NP_001291646.2

COSMIC

5277

OpenTargets

ENSG00000171862

IntEnz

3.1.3.48

GeneCards

P60484

ZINC target

P60484

PRO

P60484

Orphanet

15166

PDB

5BZX, 5BZZ, 5BUG, 4O1V, 2KYL, 1D5R

HMDB Protein

HMDBP01570

Interactors (23)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O14745 NHRF1			0.771	7
UniProt:P09619 PDGFRB	3	PDGFRB [plasma membrane] (R-HSA-186767) p-11Y-PDGFRB [plasma membrane] (R-HSA-8864039) p-12Y-PDGFRB [plasma membrane] (R-HSA-186803)	0.702	3
UniProt:P42685 FRK	4	FRK [azurophil granule lumen] (R-HSA-6799142) p-Y387-FRK [cytosol] (R-HSA-8847965) FRK [extracellular region] (R-HSA-6806235) FRK [specific granule lumen] (R-HSA-6801037)	0.639	7
UniProt:Q15599 NHRF2			0.639	5
UniProt:Q5TCQ9 MAGI3			0.633	6
UniProt:P60484 PTEN	41	PTEN [nucleoplasm] (R-HSA-5690148) K48polyUb-PTEN [cytosol] (R-HSA-8874327) PolyUb-PTEN [nucleoplasm] (R-HSA-6782515) PTEN H93R [cytosol] (R-HSA-2318524) PTEN C124R [cytosol] (R-HSA-2317439) PTEN H93Y [cytosol] (R-HSA-2318520) PTEN R130G [cytosol] (R-HSA-2317339) PTEN H93D [cytosol] (R-HSA-2318550) PTEN R130L [cytosol] (R-HSA-2317430) PTEN H93A [cytosol] (R-HSA-2318544) PTEN G129E [cytosol] (R-HSA-2318509) PTEN S170N [cytosol] (R-HSA-2318408) PTEN R173P [cytosol] (R-HSA-2317480) PTEN R130Q [cytosol] (R-HSA-2317416) PTEN H93Q [cytosol] (R-HSA-2318565) PTEN G129R [cytosol] (R-HSA-2318501) PTEN H123Y [cytosol] (R-HSA-2318469) PTEN S170R [cytosol] (R-HSA-2318437) PTEN R173C [cytosol] (R-HSA-2317478) PTEN R173H [cytosol] (R-HSA-2317473) PTEN C124S [cytosol] (R-HSA-2317379) PTEN C124Y [cytosol] (R-HSA-2317464) PTEN R130P [cytosol] (R-HSA-2317432) PTEN C124F [cytosol] (R-HSA-2317461) PTEN G129V [cytosol] (R-HSA-2318503) PTEN S170I [cytosol] (R-HSA-2318455) PTEN S170G [cytosol] (R-HSA-2318465) PTEN R233* [cytosol] (R-HSA-2318573) PTEN R335* [cytosol] (R-HSA-2318568) PTEN R130* [cytosol] (R-HSA-2318571) p-Y336-PTEN [cytosol] (R-HSA-8847980) PolyUb-K324,K344,K349-RibC-E40,E150,D326-PTEN [cytosol] (R-HSA-8948841) RibC-E40,E150,D326-PTEN [cytosol] (R-HSA-8948798) p-3S,2T-PTEN [cytosol] (R-HSA-8850936) PTEN [cytosol] (R-HSA-199420) PTEN [nucleoplasm] (R-HSA-6807273) MonoUb-K13,K289-PTEN [nucleoplasm] (R-HSA-6807264) MonoUb-K13,K289-PTEN [cytosol] (R-HSA-6807247) K48polyUb-K289-PTEN [cytosol] (R-HSA-8948777) PolyUb-PTEN [cytosol] (R-HSA-6807280) K27polyUb-PTEN [cytosol] (R-HSA-8851009)	0.632	9
UniProt:Q06830 PRDX1	3	HOOS-C52-PRDX1 [cytosol] (R-HSA-5629198) p-T90-PRDX1 [cytosol] (R-HSA-8868564) PRDX1 [cytosol] (R-HSA-3341270)	0.632	7
UniProt:P30260 CDC27	2	CDC27 [cytosol] (R-HSA-174073) CDC27 [nucleoplasm] (R-HSA-174175)	0.616	7
UniProt:O43791 SPOP	1	SPOP [nucleoplasm] (R-HSA-5635035)	0.611	4
UniProt:P35226 BMI1	3	p-S-BMI1 [nucleoplasm] (R-HSA-3229116) BMI1 [nucleoplasm] (R-HSA-389121) SUMO1-K88-BMI1 [nucleoplasm] (R-HSA-4551729)	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	NEDD4 [cytosol] (R-HSA-975992)	0.591	4
UniProt:O88382 MAGI2			0.581	3
UniProt:P62136 PPP1CA	1	PPP1CA [cytosol] (R-HSA-163525)	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	CAV1 [early endosome membrane] (R-HSA-5368451) CAV1 [plasma membrane] (R-HSA-534994) CAV1 [Golgi membrane] (R-HSA-204504) CAV1 [lipid droplet] (R-HSA-163510) CAV1 [endocytic vesicle membrane] (R-HSA-535009)	0.499	2
UniProt:Q9UJX3 ANAPC7	2	ANAPC7 [cytosol] (R-HSA-174242) ANAPC7 [nucleoplasm] (R-HSA-174204)	0.462	2
UniProt:Q9UJX5 ANAPC4	2	ANAPC4 [cytosol] (R-HSA-174168) ANAPC4 [nucleoplasm] (R-HSA-174115)	0.462	2
UniProt:Q9UJX4 ANAPC5	2	ANAPC5 [cytosol] (R-HSA-174211) ANAPC5 [nucleoplasm] (R-HSA-174153)	0.462	2