Reactome | PTEN H93R [cytosol]

PTEN H93R [cytosol]

Stable Identifier

R-HSA-2318524

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

PTEN His93Arg

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Locations in the PathwayBrowser

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Disease (Homo sapiens)

- Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
  - PI3K/AKT Signaling in Cancer (Homo sapiens)
    - PTEN Loss of Function in Cancer (Homo sapiens)
      - PTEN cancer mutants do not dephosphorylate PIP3 (Homo sapiens)
        
        PTEN Mutants [cytosol] (Homo sapiens)
        
        PTEN Phosphatase Domain Missense Mutants [cytosol] (Homo sapiens)
        
        PTEN H93R [cytosol] (Homo sapiens)

General

PTEN missense mutation that results in the substitution of histidine at position 93 with arginine affects the conserved WPD loop of the phosphatase domain of PTEN. PTEN H93R (His93Arg) mutant shows markedly decreased phosphoinositide phosphatase activity (Redfern et al. 2010). PTEN H93R substituion is implicated in autism spectrum disorders (Butler et al. 2005).

Literature References

PubMed ID	Title	Journal	Year
15805158	Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations Brown, M, Talebizadeh, Z, Wang, CH, Butler, MG, Takahashi, TN, Eng, C, Miles, JH, Stratton, R, Pilarski, R, Dasouki, MJ, Zhou, XP	J. Med. Genet.	2005
20718038	A mutant form of PTEN linked to autism Gericke, A, Li, L, Daou, MC, Redfern, RE, Munson, M, Ross, AH	Protein Sci.	2010

External Reference Information

External Reference

UniProt:P60484 PTEN

Gene Names

PTEN, MMAC1, TEP1

Chain

initiator methionine:, chain:2-403

Reference Genes

BioGPS Gene:5728 PTEN

COSMIC (genes):PTEN PTEN

CTD Gene:5728 PTEN

dbSNP Gene:5728 PTEN

ENSEMBL:ENSG00000171862 PTEN

ENSEMBL_homo_sapiens_GENE:ENSG00000171862.15 PTEN

ENSEMBL_homo_sapiens_GENE:ENSG00000284792.2 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

11719323_at

11719324_x_at

11757445_s_at

11758421_s_at

1434_at

204053_PM_x_at

204053_x_at

204054_PM_at

204054_at

211711_PM_s_at

211711_s_at

217492_PM_s_at

217492_s_at

225363_PM_at

225363_at

228006_PM_at

228006_at

31675_s_at

3203667

3203670

3203671

3203672

3203673

3203674

3256697

3256698

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

56027_at

5728

58901_at

64073_at

7928959

8160718

90129_at

A_23_P98085

A_24_P252785

A_24_P913115

GE480829

GE59570

GE88557

GO:0000278

GO:0001933

GO:0003824

GO:0004438

GO:0004721

GO:0004722

GO:0004725

GO:0005515

GO:0005576

GO:0005634

GO:0005654

GO:0005737

GO:0005829

GO:0005886

GO:0006351

GO:0006355

GO:0006470

GO:0006629

GO:0006661

GO:0006915

GO:0007010

GO:0007056

GO:0007059

GO:0007155

GO:0007270

GO:0007399

GO:0007416

GO:0007417

GO:0007507

GO:0007611

GO:0007626

GO:0008284

GO:0008285

GO:0008289

GO:0009898

GO:0010719

GO:0010975

GO:0010977

GO:0010997

GO:0012501

GO:0014069

GO:0016192

GO:0016311

GO:0016314

GO:0016324

GO:0016477

GO:0016605

GO:0016787

GO:0016791

GO:0017018

GO:0019899

GO:0021542

GO:0021955

GO:0022414

GO:0023052

GO:0030154

GO:0030163

GO:0030165

GO:0030336

GO:0030351

GO:0031647

GO:0032286

GO:0032535

GO:0033137

GO:0033555

GO:0034330

GO:0035176

GO:0035749

GO:0036211

GO:0042060

GO:0042802

GO:0042995

GO:0043005

GO:0043197

GO:0043220

GO:0043226

GO:0043491

GO:0045202

GO:0045475

GO:0045736

GO:0045792

GO:0046621

GO:0046856

GO:0048853

GO:0048854

GO:0048856

GO:0048870

GO:0050771

GO:0050821

GO:0050877

GO:0051091

GO:0051548

GO:0051717

GO:0051800

GO:0051895

GO:0051896

GO:0051898

GO:0052866

GO:0060024

GO:0060070

GO:0060074

GO:0060134

GO:0060997

GO:0061002

GO:0061024

GO:0071257

GO:0090394

GO:0097105

GO:0097107

GO:0140013

GO:0140096

GO:1902807

GO:1903690

GO:1904668

GO:1904706

GO:1990381

GO:2000060

GO:2000134

GO:2000463

GO:2000773

GO:2000808

HMNXSV003001462

HMNXSV003049774

Hs.278506.0.S1_3p_s_at

Hs.27865.0.S1_3p_at

Hs.98267.0.A1_3p_at

ILMN_1701134

ILMN_1880406

PH_hs_0040986

TC10000623.hg

U92436_at

g13543309_3p_s_at

g4506248_3p_at

Participates

as a member of

PTEN Phosphatase Domain Missense Mutants [cytosol] (Homo sapiens)

Other forms of this molecule

K48polyUb-PTEN [cytosol]

PolyUb-PTEN [nucleoplasm]

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 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 E256* [cytosol]

PTEN R189* [cytosol]

PTEN E307* [cytosol]

PTEN K263* [cytosol]

PTEN E235* [cytosol]

PTEN E288* [cytosol]

PTEN K221* [cytosol]

PTEN K344* [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]

K27polyUb-PTEN [cytosol]

PolyUb-PTEN [cytosol]

K48polyUb-K289-PTEN [cytosol]

MonoUb-K13,K289-PTEN [cytosol]

MonoUb-K13,K289-PTEN [nucleoplasm]

PTEN [cytosol]

PTEN [nucleoplasm]

Modified Residues

Name

L-histidine 93 replaced with L-arginine

Coordinate

PsiMod

L-arginine residue [MOD:00011]

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

L-histidine removal [MOD:01639]

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

Disease

Name	Identifier	Synonyms
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
autism spectrum disorder	DOID:0060041

Cross References

RefSeq

NP_001291647.1, NP_000305.3, NP_001291646.2

Guide to Pharmacology - Targets

2497

OpenTargets

ENSG00000171862

ZINC target

P60484

PRO

P60484

PDB

5BUG, 2KYL, 7JTX, 7PC7, 7JUK, 5BZZ, 5BZX, 1D5R, 7JVX, 4O1V, 7JUL

COSMIC

COSV64296545

HPA

ENSG00000171862-PTEN

GeneCards

P60484

Ensembl

ENSP00000508752, ENSP00000361021, ENST00000371953, ENSG00000171862, ENST00000688308

Pharos - Targets

P60484

Orphanet

15166

HMDB Protein

HMDBP01570

Interactors (26)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O14745 NHRF1			0.771	7
UniProt:P09619 PDGFRB	3	p-11Y-PDGFRB [plasma membrane] (R-HSA-8864039) PDGFRB [plasma membrane] (R-HSA-186767) p-12Y-PDGFRB [plasma membrane] (R-HSA-186803)	0.675	3
UniProt:Q15599 NHRF2			0.639	5
UniProt:P42685 FRK	4	FRK [specific granule lumen] (R-HSA-6801037) FRK [extracellular region] (R-HSA-6806235) FRK [azurophil granule lumen] (R-HSA-6799142) p-Y387-FRK [cytosol] (R-HSA-8847965)	0.639	7
UniProt:Q5TCQ9 MAGI3			0.633	6
UniProt:Q06830 PRDX1	3	p-T90-PRDX1 [cytosol] (R-HSA-8868564) HOOS-C52-PRDX1 [cytosol] (R-HSA-5629198) PRDX1 [cytosol] (R-HSA-3341270)	0.632	7
UniProt:P30260 CDC27	2	CDC27 [nucleoplasm] (R-HSA-174175) CDC27 [cytosol] (R-HSA-174073)	0.616	7
UniProt:P60484 PTEN	20	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)	0.615	9
UniProt:O43791 SPOP	1	SPOP [nucleoplasm] (R-HSA-5635035)	0.611	4
UniProt:P35226 BMI1	3	BMI1 [nucleoplasm] (R-HSA-389121) p-S-BMI1 [nucleoplasm] (R-HSA-3229116) monoSUMO1-K88-BMI1 [nucleoplasm] (R-HSA-4551729)	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	NEDD4 [cytosol] (R-HSA-975992)	0.591	4
UniProt:O88382 MAGI2			0.581	3
UniProt:Q9JHL1 NHRF2			0.524	2
UniProt:P62136 PPP1CA	1	PPP1CA [cytosol] (R-HSA-163525)	0.524	2
UniProt:Q9JK71 MAGI3			0.508	3
UniProt:Q9P0U4 CXXC1	1	CXXC1 [nucleoplasm] (R-HSA-535610)	0.508	2
UniProt:Q9NRD5 PICK1	2	PICK1 [endocytic vesicle membrane] (R-HSA-417017) PICK1 [plasma membrane] (R-HSA-416989)	0.508	2
UniProt:Q03135 CAV1	5	CAV1 [Golgi membrane] (R-HSA-204504) CAV1 [plasma membrane] (R-HSA-534994) CAV1 [lipid droplet] (R-HSA-163510) CAV1 [endocytic vesicle membrane] (R-HSA-535009) CAV1 [early endosome membrane] (R-HSA-5368451)	0.499	2
UniProt:Q9ULX6 AKAP8L	1	AKAP8L [nucleoplasm] (R-HSA-9821364)	0.499	2
UniProt:Q16643 DBN1	1	DBN1 [cytosol] (R-HSA-9714666)	0.471	5
UniProt:Q9UJX3 ANAPC7	2	ANAPC7 [nucleoplasm] (R-HSA-174204) ANAPC7 [cytosol] (R-HSA-174242)	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 [nucleoplasm] (R-HSA-174153) ANAPC5 [cytosol] (R-HSA-174211)	0.462	2

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