PTEN R130L [cytosol]

Stable Identifier
R-HSA-2317430
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
PTEN Arg130Leu
Icon
PTEN R130L [cytosol] icon
PTEN R130L [cytosol] icon
Locations in the PathwayBrowser
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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

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

Hum. Mol. Genet. 1998
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
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
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
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
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
ZINC target
PRO
GlyGen
PDB
COSMIC
GeneCards
HPA
Pharos - Targets
Orphanet
HMDB Protein
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:Q9JHL1 NHRF2      0.524 2
 UniProt:P62136 PPP1CA  1 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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