PTEN H93R [cytosol]

Stable Identifier
R-HSA-2318524
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
PTEN His93Arg
Icon
PTEN H93R [cytosol] icon
PTEN H93R [cytosol] icon
Locations in the PathwayBrowser
Expand all
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: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
ENSEMBL:ENSG00000171862.14 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: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:0014065
GO:0014067
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:0023052
GO:0030154
GO:0030163
GO:0030165
GO:0030336
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:0070373
GO:0071257
GO:0090394
GO:0097105
GO:0097107
GO:0110165
GO:0140096
GO:1902807
GO:1903690
GO:1903984
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
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
93
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
Guide to Pharmacology - Targets
OpenTargets
ZINC target
PRO
PDB
COSMIC
IntEnz
GeneCards
HPA
Ensembl
Pharos - Targets
Orphanet
HMDB Protein
Interactors (25)
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:Q9JK71 MAGI3      0.508 3
 UniProt:Q9P0U4 CXXC1  1 0.508 2
 UniProt:Q9NRD5 PICK1  2 0.508 2
 UniProt:Q03135 CAV1  5 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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