Reactome | PTEN R130L [cytosol]

PTEN R130L [cytosol]

Stable Identifier

R-HSA-2317430

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

PTEN Arg130Leu

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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 R130L [cytosol] (Homo sapiens)

General

PTEN missense mutation that results in the substitution of arginine at position 130 with leucine 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 R130L (Arg130Leu) mutant shows markedly decreased phosphoinositide phosphatase activity (Han et al. 2000). PTEN R130L is found as a germline mutation in Cowden syndrome, an autosomal dominant cancer syndrome (Marsh et al. 1998).

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 Marsh, DJ, Coulon, V, Lunetta, KL, Rocca-Serra, P, Dahia, PL, Zheng, Z, Liaw, D, Caron, S, Duboué, B, Lin, AY, Richardson, AL, Bonnetblanc, JM, Bressieux, JM, Cabarrot-Moreau, A, Chompret, A, Demange, L, Eeles, RA, Yahanda, AM, Fearon, ER, Fricker, JP, Gorlin, RJ, Hodgson, SV, Huson, S, Lacombe, D, Eng, C	Hum. Mol. Genet.	1998
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

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

COSMIC (genes):TEP1 PTEN

CTD Gene:5728 PTEN

dbSNP Gene:5728 PTEN

ENSEMBL:ENSG00000171862 PTEN

HGNC:9588 PTEN

KEGG:hsa:5728 PTEN

Monarch:5728 PTEN

NCBI Gene:5728 PTEN

OMIM:601728 PTEN

UCSC:P60484 PTEN

Reference Transcript

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 H93R [cytosol]

PTEN C124R [cytosol]

PTEN H93Y [cytosol]

PTEN R130G [cytosol]

PTEN H93D [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 L-leucine

Coordinate

130

PsiMod

L-leucine residue [MOD:00020]

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

L-arginine removal [MOD:01632]

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

Disease

Name	Identifier	Synonyms
Cowden syndrome	DOID:6457	multiple hamartoma syndrome
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
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
breast cancer	DOID:1612	malignant tumor of the breast, mammary cancer, malignant neoplasm of breast, mammary tumor, primary breast cancer, breast cancer, Ca breast - NOS, breast tumor

Cross References

RefSeq

NP_000305.3, NP_001291646.2, NP_001291647.1

Guide to Pharmacology - Targets

2497

OpenTargets

ENSG00000171862

ENSEMBL

ENSP00000508752, ENSP00000518244, ENSG00000284792, ENST00000371953, ENSP00000518242, ENST00000688308, ENST00000710385, ENST00000644628, ENST00000710387, ENSP00000361021, ENSP00000494918, ENSG00000171862

Mondo

0016063

ZINC target

P60484

PRO

P60484

GlyGen

P60484

PDB

7JUK, 7JVX, 7JTX, 8X3S, 4O1V, 5BUG, 1D5R, 7PC7, 5BZZ, 2KYL, 5BZX, 7JUL

COSMIC

COSV64291054

GeneCards

PTEN

HPA

ENSG00000171862-PTEN

Pharos - Targets

P60484

Orphanet

PTEN

HMDB Protein

HMDBP01570

Interactors (46)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O14745 NHRF1			0.826	9
UniProt:Q5TCQ9 MAGI3			0.747	9
UniProt:Q15599 NHRF2			0.733	6
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)	0.713	19
UniProt:O60307 MAST3			0.698	4
UniProt:P09619 PDGFRB	3	p-12Y-PDGFRB [plasma membrane] (R-HSA-186803) PDGFRB [plasma membrane] (R-HSA-186767) p-11Y-PDGFRB [plasma membrane] (R-HSA-8864039)	0.675	3
UniProt:P42685 FRK	4	p-Y387-FRK [cytosol] (R-HSA-8847965) FRK [azurophil granule lumen] (R-HSA-6799142) FRK [extracellular region] (R-HSA-6806235) FRK [specific granule lumen] (R-HSA-6801037)	0.639	7
UniProt:Q06830 PRDX1	4	PRDX1 [cytosol] (R-HSA-3341270) HOOS-C52-PRDX1 [cytosol] (R-HSA-5629198) PRDX1 [extracellular region] (R-HSA-8958052) p-T90-PRDX1 [cytosol] (R-HSA-8868564)	0.632	7
UniProt:P30260 CDC27	2	CDC27 [cytosol] (R-HSA-174073) CDC27 [nucleoplasm] (R-HSA-174175)	0.616	7
UniProt:Q6P0Q8 MAST2			0.611	4
UniProt:Q9NZN5-2 ARHGEF12			0.611	4
UniProt:Q92743 HTRA1	1	HTRA1 [extracellular region] (R-HSA-8855820)	0.611	4
UniProt:Q9H5P4 PDZD7			0.611	4
UniProt:A4D2P6 GRD2I			0.611	4
UniProt:Q9HD26 GOPC	3	GOPC [Golgi-associated vesicle membrane] (R-HSA-5627067) GOPC [plasma membrane] (R-HSA-5626572) GOPC [lysosomal membrane] (R-HSA-5627281)	0.611	4
UniProt:O43791 SPOP	3	SPOP [cytosol] (R-HSA-9929375) p-S6-SPOP [cytosol] (R-HSA-9929374) SPOP [nucleoplasm] (R-HSA-5635035)	0.611	4
UniProt:Q14160 SCRIB	1	SCRIB [cytosol] (R-HSA-4608858)	0.611	4
UniProt:Q9Y2H9 MAST1			0.611	4
UniProt:Q86UL8 MAGI2	1	MAGI2 [cytosol] (R-HSA-451399)	0.611	6
UniProt:Q9NY99 SNTG2	1	SNTG2 [plasma membrane] (R-HSA-9630719)	0.611	3
UniProt:Q96L92 SNX27			0.611	4
UniProt:Q13424 SNTA1	1	SNTA1 [plasma membrane] (R-HSA-5490334)	0.611	4
UniProt:Q13884 SNTB1	1	SNTB1 [plasma membrane] (R-HSA-5490333)	0.611	5
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:Q60592 MAST2			0.593	4
UniProt:P46934 NEDD4	1	NEDD4 [cytosol] (R-HSA-975992)	0.591	4
UniProt:O88382 MAGI2			0.581	3
UniProt:O75970 MPDZ			0.544	4
UniProt:Q96QZ7 MAGI1			0.544	5
UniProt:Q15700 DLG2	2	DLG2 [plasma membrane] (R-HSA-9610662) DLG2 [cytosol] (R-HSA-6794230)	0.544	2
UniProt:Q8NI35 PATJ	1	PATJ [plasma membrane] (R-HSA-420011)	0.544	3
UniProt:P62136 PPP1CA	2	PPP1CA [cytosol] (R-HSA-163525) PPP1CA [nucleoplasm] (R-HSA-61995)	0.524	2
UniProt:Q9JHL1 NHRF2			0.524	2
UniProt:P21860 ERBB3			0.519	2
UniProt:Q9NRD5 PICK1	2	PICK1 [plasma membrane] (R-HSA-416989) PICK1 [endocytic vesicle membrane] (R-HSA-417017)	0.508	2
UniProt:Q9JK71 MAGI3			0.508	3
UniProt:Q9P0U4 CXXC1	1	CXXC1 [nucleoplasm] (R-HSA-535610)	0.508	2
UniProt:Q03135 CAV1	5	CAV1 [Golgi membrane] (R-HSA-204504) CAV1 [lipid droplet] (R-HSA-163510) CAV1 [plasma membrane] (R-HSA-534994) 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:P08238 HSP90AB1	6	HSP90AB1 [lysosomal lumen] (R-HSA-9622846) HSP90AB1 [nucleoplasm] (R-HSA-5082399) HSP90AB1 [cytosol] (R-HSA-419617) HSP90AB1 [secretory granule lumen] (R-HSA-6801477) HSP90AB1 [extracellular region] (R-HSA-6806463) HSP90AB1 [ficolin-1-rich granule lumen] (R-HSA-6801491)	0.483	2
UniProt:Q9UER7 DAXX	13	DAXX [nucleoplasm] (R-HSA-3222068) DAXX A36Qfs108 [nucleoplasm] (R-HSA-9673105) DAXX K56 [nucleoplasm] (R-HSA-9673089) DAXX A103Sfs40 [nucleoplasm] (R-HSA-9673121) DAXX C106 [nucleoplasm] (R-HSA-9673079) DAXX E72Nfs72 [nucleoplasm] (R-HSA-9673110) DAXX E104 [nucleoplasm] (R-HSA-9673078) DAXX H26Tfs118 [nucleoplasm] (R-HSA-9673114) DAXX S138 [nucleoplasm] (R-HSA-9673081) DAXX C74* [nucleoplasm] (R-HSA-9673096) DAXX R48Vfs93 [nucleoplasm] (R-HSA-9673103) DAXX L98Vfs13 [nucleoplasm] (R-HSA-9673102) monoSUMO1-K630,K631-DAXX [nucleoplasm] (R-HSA-4086086)	0.483	2
UniProt:Q16643 DBN1	1	DBN1 [cytosol] (R-HSA-9714666)	0.471	5
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

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