Free for academic non-profit institutions. Other users need a Commercial license
PIK3C3 (Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3) is a Protein Coding gene. Diseases associated with PIK3C3 include Myopathy, X-Linked, With Excessive Autophagy and Danon Disease. Among its related pathways are Macroautophagy and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and binding. An important paralog of this gene is PIK3CG.
PI 3-Kinases (phosphoinositide 3-kinases, PI 3-Ks) are a family of lipid kinases capable of phosphorylating the 3'OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation and survival.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH18J041954 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 607.9 | +0.5 | 493 | 2.6 | SIX5 ETV6 FOXA1 GABPA PHF21A RBFOX2 PKNOX1 POLR2A PATZ1 SP1 | PIK3C3 HSALNG0121156 | |
GH18J041991 | Enhancer | 1 | Ensembl ENCODE | 12.1 | +36.8 | 36775 | 2.8 | ARHGAP35 BACH1 STAT3 PKNOX1 POLR2A TCF12 IKZF2 TRIM22 HDAC1 SOX6 | PIK3C3 HSALNG0121156 ENSG00000276174 | |
GH18J042113 | Enhancer | 0.8 | ENCODE | 10.5 | +158.9 | 158913 | 1.9 | GATAD2A CTCF TEAD4 ZNF143 REST RAD21 SP1 TRIM22 YY1 FOXJ2 | ENSG00000287007 PIK3C3 HSALNG0121166 | |
GH18J041937 | Enhancer | 1 | FANTOM5 Ensembl ENCODE | 6.5 | -16.3 | -16268 | 5.5 | ZNF512 PKNOX1 IKZF2 CTCF RELB JUND CEBPB TSC22D4 FOS HDGF | PIK3C3 LOC105372085 | |
GH18J041982 | Enhancer | 0.5 | Ensembl | 12.2 | +27.8 | 27775 | 1.6 | IKZF2 JUNB TBX21 ATF7 MTA2 | PIK3C3 HSALNG0121156 ENSG00000276174 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 7504174 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016301 | kinase activity | IEA,IDA | 25327288 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000407 | phagophore assembly site | IBA | 21873635 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005768 | endosome | IBA | 21873635 |
GO:0005770 | late endosome | IEA,IDA | 14617358 |
GO:0005776 | autophagosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling | ||
2 | Inositol phosphate metabolism (KEGG) | ||
3 | PI Metabolism |
.63
|
|
4 | Metabolism |
.40
|
|
5 | Apoptosis Pathway |
.39
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000045 | autophagosome assembly | IEA,IBA | 21873635 |
GO:0006468 | protein phosphorylation | IEA | -- |
GO:0006497 | protein lipidation | IMP | 25327288 |
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
GO:0006897 | endocytosis | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Manganese | Approved | Nutra | 56 | |||
3-Methyladenine | Experimental | Pharma | Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy | 0 | ||
N-(5-{4-Chloro-3-[(2-hydroxyethyl)sulfamoyl]phenyl}-4-methyl-1,3-thiazol-2-yl)acetamide | Experimental | Pharma | Target | 0 | ||
Quercetin | Experimental, Investigational | Pharma | Antitumor agent, Non-selective PI 3-kinase inhibitor | 54 | ||
Wortmannin | Experimental | Pharma | PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
1D-Myo-inositol 1,3-bisphosphate |
|
103597-56-4 |
|
|
||
1-Phosphatidyl-1D-myo-inositol 3-phosphate |
|
|
||||
1-Phosphatidyl-D-myo-inositol |
|
|
||||
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
Phosphatidylinositol-3,4,5-trisphosphate |
|
|
|
Compound | Action | Cas Number |
---|---|---|
3-Methyladenine | Class III PI 3-kinase inhibitor; also inhibits autophagy | 5142-23-4 |
LY 294002 hydrochloride | Prototypical PI 3-kinase inhibitor; also inhibits other kinases | 934389-88-5 |
PI 103 hydrochloride | Inhibitor of PI 3-kinase, mTOR and DNA-PK | 371935-79-4 |
Quercetin | Non-selective PI 3-kinase inhibitor | 117-39-5 |
Wortmannin | Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 | 19545-26-7 |
Compound | Action | Cas Number |
---|---|---|
3-Methyladenine | Class III PI3K inhibitor | 5142-23-4 |
SAR405 | Selective ATP-competitive inhibitor of Vps34 | 1523406-39-4 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | · | 22c | ^ | 23a | · | 23b | · | 23c | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | · | 27c | · | 27d | · | 27e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||
SP11: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIK3C3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PIK3C3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PIK3C3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PIK3C3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PIK3C3 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pik3c3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pik3c3 30 |
|
||
Chicken (Gallus gallus) |
Aves | PIK3C3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PIK3C3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pik3c3 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.11237 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pik3c3 30 31 |
|
OneToOne | |
wufc13g06 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pi3K59F 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010273 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | vps-34 30 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VPS34 30 31 33 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D18645g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL113C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | VPS34 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.9995 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.2544 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0180600 30 |
|
||
Os.11111 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.11305 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.28795 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3927 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pik3 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU00656 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.5903 30 |
|
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
722305 | Benign: not provided | 42,067,450(+) | G/A | SYNONYMOUS_VARIANT | |
747993 | Likely Benign: not provided | 42,043,805(+) | G/A | MISSENSE_VARIANT | |
782554 | Benign: not provided | 42,004,549(+) | ATTAT/A | INTRON_VARIANT | |
783802 | Benign: not provided | 42,004,523(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3342n100 | CNV | gain | 25217958 |
dgv982e212 | CNV | gain | 25503493 |
esv1001271 | CNV | insertion | 20482838 |
esv1518239 | CNV | deletion | 17803354 |
esv2316444 | CNV | deletion | 18987734 |
esv2674644 | CNV | deletion | 23128226 |
esv2717009 | CNV | deletion | 23290073 |
esv2717010 | CNV | deletion | 23290073 |
esv2717011 | CNV | deletion | 23290073 |
esv2717012 | CNV | deletion | 23290073 |
esv2762006 | CNV | gain | 21179565 |
esv34153 | CNV | loss | 18971310 |
esv3555276 | CNV | deletion | 23714750 |
esv3642321 | CNV | gain | 21293372 |
esv3642341 | CNV | loss | 21293372 |
esv3642342 | CNV | gain | 21293372 |
esv3642345 | CNV | gain | 21293372 |
esv3642346 | CNV | loss | 21293372 |
esv3642347 | CNV | gain | 21293372 |
esv3893097 | CNV | gain | 25118596 |
nsv131226 | CNV | deletion | 16902084 |
nsv507870 | OTHER | sequence alteration | 20534489 |
nsv833631 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, x-linked, with excessive autophagy |
|
|
danon disease |
|
|
myopathy, centronuclear, x-linked |
|
|
alzheimer disease |
|
|
centronuclear myopathy |
|
|