PTEN H93Q [cytosol]

Stable Identifier
R-HSA-2318565
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
PTEN His93Gln
Icon
PTEN H93Q [cytosol] icon
PTEN H93Q [cytosol] icon
Locations in the PathwayBrowser
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General
PTEN missense mutation that results in the substitution of histidine at position 93 with glutamine affects the conserved WPD loop of the phosphatase domain of PTEN. PTEN H93Q (His93Gln) mutant shows markedly decreased phosphoinositide phosphatase activity (Rodriguez-Escudero et al. 2011).
Literature References
PubMed ID Title Journal Year
21828076 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes

Rodríguez-Escudero, I, Cid, VJ, Molina, M, Pulido, R, Oliver, MD, Andrés-Pons, A

Hum. Mol. Genet. 2011
External Reference Information
External Reference
UniProt:P60484 PTEN
Gene Names
PTEN, MMAC1, TEP1
Chain
initiator methionine:, chain:2-403
Reference Genes
COSMIC (genes):PTEN PTEN
COSMIC (genes):TEP1 PTEN
dbSNP Gene:5728 PTEN
ENSEMBL:ENSG00000171862 PTEN
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 R130L [cytosol]
PTEN H93A [cytosol]
PTEN G129E [cytosol]
PTEN S170N [cytosol]
PTEN R173P [cytosol]
PTEN R130Q [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-histidine 93 replaced with L-glutamine
Coordinate
93
PsiMod
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
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
brain glioma DOID:0060108
glioblastoma multiforme DOID:3068 GBM, adult glioblastoma multiforme, grade IV adult Astrocytic tumor, primary glioblastoma multiforme, spongioblastoma multiforme
Cross References
COSMIC
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:P62136 PPP1CA  1 0.524 2
 UniProt:Q9JHL1 NHRF2      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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