PIK3CA R38H [cytosol]

Stable Identifier
R-HSA-1500718
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
PIK3CA Arg38His
Locations in the PathwayBrowser
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General

The arginine residue at position 38 of PIK3CA (R38) is located at a contact site between the ABD and kinase domains of PIK3CA. Substitution of this arginine residue with histidine in PIK3CA R38H mutant is likely to disrupt the interaction between the ABD domain and the kinase domain, causing a confomrational change of the kinase domain that leads to increased enzymatic activity (Huang et al. 2007). PIK3CA R38H mutant shows reduced PIK3R1 binding and modestly increased catalytic activity (measured indirectly, via AKT1 phosphorylation) under serum starved conditions (Zhao et al. 2005).

Literature References
PubMed ID Title Journal Year
16339315 The oncogenic properties of mutant p110alpha and p110beta phosphatidylinositol 3-kinases in human mammary epithelial cells

Zhao, JJ, Liu, Z, Wang, L, Shin, E, Loda, MF, Roberts, TM

Proc. Natl. Acad. Sci. U.S.A. 2005
18079394 The structure of a human p110alpha/p85alpha complex elucidates the effects of oncogenic PI3Kalpha mutations

Huang, CH, Mandelker, D, Schmidt-Kittler, O, Samuels, Y, Velculescu, VE, Kinzler, KW, Vogelstein, B, Gabelli, SB, Amzel, LM

Science 2007
15016963 High frequency of mutations of the PIK3CA gene in human cancers

Samuels, Y, Wang, Z, Bardelli, A, Silliman, N, Ptak, J, Szabo, S, Yan, H, Gazdar, A, Powell, SM, Riggins, GJ, Willson, JKV, Markowitz, S, Kinzler, KW, Vogelstein, B, Velculescu, VE

Science 2004
External Reference Information
External Reference
UniProt:P42336 PIK3CA
Gene Names
PIK3CA
Chain
chain:1-1068
Reference Genes
BioGPS Gene:5290 PIK3CA
COSMIC (genes):PIK3CA PIK3CA
CTD Gene:5290 PIK3CA
dbSNP Gene:5290 PIK3CA
ENSEMBL:ENSG00000121879 PIK3CA
HGNC:8975 PIK3CA
KEGG Gene (Homo sapiens):5290 PIK3CA
Monarch:5290 PIK3CA
NCBI Gene:5290 PIK3CA
OMIM:171834 PIK3CA
UCSC:P42336 PIK3CA
Reference Transcript
Other Identifiers
0002900288
11745214_a_at
11763283_at
16948209
17122920
17122922
204369_at
231854_at
235980_at
2653841
2653852
2653853
2653855
2653856
2653857
2653858
2653860
2653861
2653862
2653864
2653865
2653866
2653867
2653868
2653869
2653871
2653872
2653873
2653875
2653876
2653877
2653879
2653880
2653881
2653882
2653883
2653884
2653885
2653890
3935885
3935887
3935891
3935893
3935895
3935897
40704_at
41969_at
5290
55954_at
8084016
81516_at
81657_at
83177_at
90039_at
A_14_P113684
A_14_P127878
A_14_P128410
A_21_P0012238
A_23_P92057
GE60386
GE88555
GO:0000166
GO:0000902
GO:0001525
GO:0001889
GO:0001932
GO:0001944
GO:0002376
GO:0003013
GO:0003674
GO:0004674
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005737
GO:0005829
GO:0005886
GO:0005942
GO:0005943
GO:0005944
GO:0005975
GO:0006006
GO:0006091
GO:0006259
GO:0006464
GO:0006468
GO:0006629
GO:0006661
GO:0006810
GO:0006909
GO:0006914
GO:0006950
GO:0007010
GO:0007155
GO:0007165
GO:0007173
GO:0007186
GO:0007411
GO:0008150
GO:0008219
GO:0009056
GO:0009058
GO:0010468
GO:0010592
GO:0014065
GO:0014068
GO:0014704
GO:0016020
GO:0016192
GO:0016242
GO:0016301
GO:0016303
GO:0016310
GO:0016477
GO:0016740
GO:0019221
GO:0022607
GO:0030027
GO:0030036
GO:0030154
GO:0030168
GO:0030234
GO:0030295
GO:0030835
GO:0031295
GO:0032008
GO:0032147
GO:0032991
GO:0033138
GO:0034641
GO:0035004
GO:0035005
GO:0035994
GO:0036092
GO:0038028
GO:0038084
GO:0038095
GO:0038096
GO:0038128
GO:0040007
GO:0040011
GO:0040014
GO:0042592
GO:0043167
GO:0043276
GO:0043457
GO:0043491
GO:0043524
GO:0043542
GO:0043560
GO:0044029
GO:0044281
GO:0046854
GO:0046934
GO:0048010
GO:0048015
GO:0048471
GO:0048646
GO:0048856
GO:0048870
GO:0050852
GO:0050900
GO:0051897
GO:0052742
GO:0052812
GO:0055119
GO:0060048
GO:0060612
GO:0071333
GO:0071464
GO:0086003
GO:0097009
GO:0106310
GO:0106311
GO:0110053
GO:2000270
GO:2000653
GO:2000811
HMNXSV003040760
Hs.120905.0.S1_3p_at
Hs.122419.0.S1_3p_at
ILMN_1705396
ILMN_1705468
PH_hs_0031379
TC03000951.hg
TC03002674.hg
TC22000929.hg
Z29090_at
g5453891_3p_at
Participates
as a member of
Other forms of this molecule
PIK3CA H1047L [cytosol]
PIK3CA H1047R [cytosol]
PIK3CA M1043I [cytosol]
PIK3CA M1043T [cytosol]
PIK3CA M1043V [cytosol]
PIK3CA H1047Y [cytosol]
PIK3CA E542K [cytosol]
PIK3CA Q546K [cytosol]
PIK3CA E545A [cytosol]
PIK3CA E545K [cytosol]
PIK3CA E545Q [cytosol]
PIK3CA Q546E [cytosol]
PIK3CA E545V [cytosol]
PIK3CA E542V [cytosol]
PIK3CA Q546L [cytosol]
PIK3CA E545G [cytosol]
PIK3CA Q546H [cytosol]
PIK3CA Q546R [cytosol]
PIK3CA Q546P [cytosol]
PIK3CA E542Q [cytosol]
PIK3CA R38S [cytosol]
PIK3CA R38G [cytosol]
PIK3CA R38C [cytosol]
PIK3CA [cytosol]
Modified Residues
Name
L-arginine 38 replaced with L-histidine
Coordinate
38
PsiMod
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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
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
large intestine cancer DOID:5672 malignant Colorectal tumor, malignant neoplasm of large intestine, NOS, malignant tumor of large intestine (disorder), malignant neoplasm of colon with rectum, malignant neoplasm of large intestine NOS
Cross References
RefSeq
ZINC - World Drugs
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
PDB
ZINC - Investigational
ZINC - Metabolites
COSMIC
GeneCards
HPA
Ensembl
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
Interactors (13)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P27986 PIK3R1  15 0.957 22
 UniProt:P35568 IRS1  5 0.755 21
 UniProt:P62993 GRB2  1 0.742 5
 UniProt:Q92569 PIK3R3  2 0.738 5
 UniProt:O00459 PIK3R2  2 0.725 9
 UniProt:P21860 ERBB3      0.564 3
 UniProt:P27986-2 PIK3R1      0.556 3
 UniProt:P54253 ATX1      0.556 3
 UniProt:P42858 HTT  1 0.556 3
 UniProt:P01100 FOS  2 0.556 3
 UniProt:P54252 ATXN3  2 0.556 3
 UniProt:P03496 NS  2 0.527 7
 UniProt:P42336 PIK3CA  25 0.462 3
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