PIK3CA Q546K [cytosol]

Stable Identifier
R-HSA-1500705
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
PIK3CA Gln546Lys
Icon
PIK3CA Q546K [cytosol] icon
PIK3CA Q546K [cytosol] icon
Locations in the PathwayBrowser
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General
Substitution of glutamine residue at position 546 of PIK3CA with lysine disrupts inhibitory interaction between the helical domain of PIK3CA and the nSH2 domain of PIK3R1. The PI3K complex containing PIK3CA Q546K mutant is constitutively active (Miled et al. 2007).
Literature References
PubMed ID Title Journal Year
17626883 Mechanism of two classes of cancer mutations in the phosphoinositide 3-kinase catalytic subunit

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

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

Ptak, J, Samuels, Y, Silliman, N, Yan, H, Gazdar, A, Riggins, GJ, Markowitz, S, Powell, SM, Szabo, S, Wang, Z, Willson, JKV, Bardelli, A, 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
ENSEMBL_homo_sapiens_GENE:ENSG00000121879.6 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
11745214_a_at
11763283_at
16948209
17122920
17122922
204369_PM_at
204369_at
231854_PM_at
231854_at
235980_PM_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:0001525
GO:0001889
GO:0001932
GO:0001944
GO:0002376
GO:0003012
GO:0003013
GO:0003824
GO:0004674
GO:0005515
GO:0005524
GO:0005737
GO:0005829
GO:0005886
GO:0005942
GO:0005943
GO:0005944
GO:0005975
GO:0006006
GO:0006091
GO:0006629
GO:0006909
GO:0006914
GO:0007010
GO:0007155
GO:0007173
GO:0008286
GO:0010468
GO:0010592
GO:0010629
GO:0012501
GO:0014704
GO:0014823
GO:0014870
GO:0016192
GO:0016242
GO:0016301
GO:0016303
GO:0016310
GO:0016740
GO:0023052
GO:0030027
GO:0030036
GO:0030168
GO:0030295
GO:0030835
GO:0031295
GO:0032008
GO:0032869
GO:0035005
GO:0035994
GO:0036092
GO:0036211
GO:0038084
GO:0040014
GO:0042060
GO:0043201
GO:0043276
GO:0043457
GO:0043491
GO:0043524
GO:0043542
GO:0043560
GO:0046854
GO:0046934
GO:0048009
GO:0048471
GO:0048661
GO:0048856
GO:0048870
GO:0050852
GO:0051897
GO:0055119
GO:0060048
GO:0060612
GO:0071333
GO:0071464
GO:0071548
GO:0086003
GO:0097009
GO:0098772
GO:0106310
GO:0110053
GO:0140096
GO:0141068
GO:1903544
GO:1905477
GO:2000270
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
p28442
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 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 R38H [cytosol]
PIK3CA R38S [cytosol]
PIK3CA R38G [cytosol]
PIK3CA R38C [cytosol]
PIK3CA [cytosol]
Modified Residues
Name
L-glutamine 546 replaced with L-lysine
Coordinate
546
PsiMod
L-lysine residue [MOD:00021]
A protein modification that effectively converts a source amino acid residue to L-lysine.
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name Identifier Synonyms
lung cancer DOID:1324
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
ovarian cancer DOID: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)
stomach cancer DOID:10534 malignant neoplasm of greater curvature of stomach, unspecified, malignant neoplasm of lesser curvature of stomach, NOS, malignant tumor of body of stomach (disorder), neoplasm of stomach (disorder), Ca lesser curvature - stomach (disorder), malignant neoplasm of greater curve of stomach unspecified (disorder), Ca body - stomach, ca lesser curvature of stomach, ca greater curvature of stomach, malignant neoplasm of lesser curvature of stomach, unspecified, malignant tumor of lesser curve of stomach (disorder), malignant neoplasm of body of stomach, gastric neoplasm, malignant neoplasm of greater curvature of stomach, NOS, Ca body - stomach (disorder), stomach neoplasm, Ca greater curvature - stomach (disorder), malignant neoplasm of lesser curve of stomach unspecified (disorder), malignant tumor of greater curve of stomach (disorder)
ovarian endometrioid neoplasm DOID:6212 malignant ovarian endometrioid tumor, endometrioid neoplasm of Ovary
acute lymphocytic leukemia DOID:9952
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
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
Guide to Pharmacology - Targets
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC target
ZINC - Biogenic
PRO
PDB
ZINC - Investigational
ZINC - Metabolites
COSMIC
IntEnz
HPA
GeneCards
Ensembl
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (22)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P27986 PIK3R1  16 0.967 64
 UniProt:O00459 PIK3R2  3 0.899 49
 UniProt:Q92569 PIK3R3  2 0.883 47
 UniProt:P35568 IRS1  5 0.853 42
 UniProt:P62993 GRB2  1 0.8 6
 UniProt:P21860 ERBB3      0.723 18
 UniProt:P27986-2 PIK3R1      0.556 3
 UniProt:P54253 ATX1      0.556 3
 UniProt:P54252 ATXN3  2 0.556 3
 UniProt:P01100 FOS  2 0.556 3
 UniProt:P42858 HTT  1 0.556 3
 UniProt:Q6ZMZ0 RNF19B  1 0.527 2
 UniProt:Q8WTX9 ZDHC1      0.527 2
 UniProt:Q9NZU1 FLRT1  1 0.527 2
 UniProt:Q01523 DEFA5  5 0.527 2
 UniProt:Q9H8J5 MANS1      0.527 2
 UniProt:Q8TDQ0 HAVCR2  1 0.527 2
 UniProt:P03496 NS  2 0.527 7
 UniProt:Q9UHF4 IL20RA  1 0.527 2
 UniProt:Q15365 PCBP1  1 0.527 2
 UniProt:Q9UH99 SUN2  1 0.527 2
 UniProt:P42336 PIK3CA  20 0.462 3
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