PIK3CA Q546P

Stable Identifier
R-HSA-1500695
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
PIK3CA Gln546Pro
Locations in the PathwayBrowser
Expand all
Summation

Based on structural and functional studies of PIK3CA Q546K mutant (Miled et al. 2007), substitution of glutamine residue at position 546 of PIK3CA with proline is expected to disrupt inhibitory interaction between the helical domain of PIK3CA and the nSH2 domain of PIK3R1, resulting in constitutive activity of the PI3K complex containing PIK3CA Q546P mutant.

Literature References
PubMed ID Title Journal Year
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
17626883 Mechanism of two classes of cancer mutations in the phosphoinositide 3-kinase catalytic subunit

Miled, N, Yan, Y, Hon, WC, Perisic, O, Zvelebil, M, Inbar, Y, Schneidman-Duhovny, D, Wolfson, HJ, Backer, JM, Williams, RL

Science 2007
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
ENSEMBL:ENSG00000121879 PIK3CA
HGNC:8975 PIK3CA
KEGG Gene (Homo sapiens):hsa:5290 PIK3CA
Monarch:5290 PIK3CA
NCBI Gene:5290 PIK3CA
OMIM:171834 PIK3CA
UCSC:P42336 PIK3CA
Reference Transcript
Other Identifiers
0002900288
00562+2.7.1.153
04070+2.7.1.153
04150+2.7.1.153
04151+2.7.1.153
05165+2.7.1.153
11745214_a_at
11763283_at
16948209
17122920
17122922
17804
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
2ENQ
2RD0
3935885
3935887
3935891
3935893
3935895
3935897
3HHM
3HIZ
3ZIM
40704_at
41969_at
4JPS
4L1B
4L23
4L2Y
4OVU
4OVV
4TUU
4TV3
4WAF
4YKN
4ZOP
5290
55954_at
5DXH
5DXT
5FI4
5ITD
5SW8
5SWG
5SWO
5SWP
5SWR
5SWT
5SX8
5SX9
5SXA
5SXB
5SXC
5SXD
5SXE
5SXF
5SXI
5SXJ
5SXK
5UBR
5UK8
5UKJ
5UL1
8084016
81516_at
81657_at
83177_at
90039_at
9985
A_14_P113684
A_14_P127878
A_14_P128410
A_21_P0012238
A_23_P92057
AAB39753
AAI13602
AAI13604
BC113601
BC113603
C9J951
C9JAM9
CAA82333
CAB017804
CCDS43171
ENSG00000121879
ENSP00000263967
ENST00000263967
EntrezGene:5290
g5453891_3p_at
GE60386
GE88555
GO:0000166
GO:0000902
GO:0001525
GO:0001889
GO:0001944
GO:0002250
GO:0002376
GO:0003013
GO:0003674
GO:0004674
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005829
GO:0005886
GO:0005942
GO:0005943
GO:0005975
GO:0006006
GO:0006091
GO:0006259
GO:0006464
GO:0006468
GO:0006629
GO:0006810
GO:0006909
GO:0006914
GO:0006950
GO:0006954
GO:0007155
GO:0007165
GO:0007173
GO:0007186
GO:0007411
GO:0008150
GO:0008219
GO:0009056
GO:0009058
GO:0010468
GO:0014065
GO:0016192
GO:0016242
GO:0016301
GO:0016303
GO:0016310
GO:0016740
GO:0019221
GO:0030027
GO:0030154
GO:0030168
GO:0030234
GO:0030295
GO:0031295
GO:0032008
GO:0032147
GO:0032991
GO:0033138
GO:0034641
GO:0035004
GO:0035005
GO:0036092
GO:0038028
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:0045087
GO:0046854
GO:0046934
GO:0048010
GO:0048015
GO:0048646
GO:0048856
GO:0048870
GO:0050852
GO:0050900
GO:0051897
GO:0060048
GO:0060326
GO:0060612
GO:0071333
GO:0097009
GO:2000270
GO:2000653
GO:2000811
HGNC:8975
HPA009985
Hs.120905.0.S1_3p_at
Hs.122419.0.S1_3p_at
ILMN_1705396
ILMN_1705468
IPR000341
IPR000403
IPR001263
IPR002420
IPR003113
IPR008290
IPR011009
IPR015433
IPR016024
IPR018936
IPR029071
IPR035892
IPR036940
LRG_310
MIM:114480
MIM:114500
MIM:114550
MIM:162900
MIM:167000
MIM:171834
MIM:182000
MIM:211980
MIM:602501
MIM:612918
MIM:613659
MIM:615108
NM_006218
NP_006209
PF00454
PF00613
PF00792
PF00794
PF02192
PH_hs_0031379
PIK3CA
PIK3CA-201
SM00142
SM00143
SM00144
SM00145
SM00146
TC03000951.hg
TC03002674.hg
TC22000929.hg
U79143
uc003fjk.4
UPI000013D494
XM_006713658
XM_011512894
XP_006713721
XP_011511196
Z29090
Z29090_at
Participant Of
hasCandidate
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 E542Q [cytosol]
PIK3CA R38H [cytosol]
PIK3CA R38S [cytosol]
PIK3CA R38G [cytosol]
PIK3CA R38C [cytosol]
PIK3CA [cytosol]
Modified Residues
Name
L-glutamine 546 replaced with L-proline
Coordinate
546
PsiMod HEY
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name Identifier Synonyms
ovarian cancer 2394 ovarian neoplasm, malignant tumour of ovary, neoplasm of ovary (disorder), ovary neoplasm, primary malignant neoplasm of ovary and other uterine adnexa (disorder), ovarian cancer, tumor of the Ovary, ovary cancer, malignant Ovarian tumor, primary ovarian cancer, malignant tumor of ovary (disorder)
endometrial cancer 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 162 malignant tumor, malignant neoplasm, primary cancer
breast cancer 1612 malignant tumor of the breast, mammary cancer, malignant neoplasm of breast, mammary tumor, primary breast cancer, breast cancer, Ca breast - NOS, breast tumor
brain glioma 0060108
malignant neoplasm of large intestine 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
ZINC - FDA approved
ZINC - Substances
ZINC target
ZINC - Biogenic
PRO
PDB
ZINC - Metabolites
COSMIC
767
GeneCards
BRENDA (Homo sapiens)
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (7)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P27986 PIK3R1  15 0.957 22
 UniProt:P35568 IRS1  4 0.755 21
 UniProt:O00459 PIK3R2  2 0.725 9
 UniProt:Q92569 PIK3R3  2 0.659 4
 UniProt:P21860 ERBB3      0.564 3
 UniProt:P03496 NS  2 0.527 7
 UniProt:P42336 PIK3CA  25 0.462 3