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Aliases for PIK3C3 Gene

Aliases for PIK3C3 Gene

  • Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3 2 3 5
  • Phosphatidylinositol 3-Kinase, Catalytic Subunit Type 3 2 3
  • Phosphatidylinositol 3-Kinase P100 Subunit 3 4
  • Phosphoinositide-3-Kinase, Class 3 2 3
  • PtdIns-3-Kinase Type 3 3 4
  • PI3-Kinase Type 3 3 4
  • EC 2.7.1.137 4 63
  • PI3K Type 3 3 4
  • HVps34 3 4
  • Vps34 3 4
  • Phosphoinositide-3-Kinase Class 3 4
  • EC 2.7.1 63

External Ids for PIK3C3 Gene

Previous GeneCards Identifiers for PIK3C3 Gene

  • GC18P039741
  • GC18P039321
  • GC18P039423
  • GC18P037787
  • GC18P037789
  • GC18P039535
  • GC18P036394

Summaries for PIK3C3 Gene

GeneCards Summary for PIK3C3 Gene

PIK3C3 (Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3) is a Protein Coding gene. Diseases associated with PIK3C3 include myopathy, centronuclear. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and binding. An important paralog of this gene is PIK3CB.

UniProtKB/Swiss-Prot for PIK3C3 Gene

  • Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530). Involved in the transport of lysosomal enzyme precursors to lysosomes. Required for transport from early to late endosomes (By similarity).

Tocris Summary for PIK3C3 Gene

  • 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.

Gene Wiki entry for PIK3C3 Gene

No data available for Entrez Gene Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3C3 Gene

Genomics for PIK3C3 Gene

Regulatory Elements for PIK3C3 Gene

Promoters for PIK3C3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIK3C3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PIK3C3 Gene

Chromosome:
18
Start:
41,955,199 bp from pter
End:
42,087,830 bp from pter
Size:
132,632 bases
Orientation:
Plus strand

Genomic View for PIK3C3 Gene

Genes around PIK3C3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIK3C3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIK3C3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3C3 Gene

Proteins for PIK3C3 Gene

  • Protein details for PIK3C3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEB9-PK3C3_HUMAN
    Recommended name:
    Phosphatidylinositol 3-kinase catalytic subunit type 3
    Protein Accession:
    Q8NEB9
    Secondary Accessions:
    • Q15134

    Protein attributes for PIK3C3 Gene

    Size:
    887 amino acids
    Molecular mass:
    101549 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Component of the PI3K (PI3KC3/PI3K-III/class III phosphatidylinositol 3-kinase) complex the core of which is composed of the catalytic subunit PIK3C3, the regulatory subunit PIK3R4 and BECN1 associating with additional regulatory/auxilliary subunits to form alternative complex forms. Alternative complex forms containing a forth regulatory subunit in a mutually exclusive manner are: the PI3K complex I (PI3KC3-C1) containing ATG14, and the PI3K complex II (PI3KC3-C2) containing UVRAG. PI3KC3-C1 displays a V-shaped architecture with PIK3R4 serving as a bridge between PIK3C3 and the ATG14:BECN1 subcomplex. Both, PI3KC3-C1 and PI3KC3-C2, can associate with further regulatory subunits such as RUBCN, SH3GLB1/Bif-1 and AMBRA1 (PubMed:7628435, PubMed:19050071, PubMed:20643123, PubMed:19270696, PubMed:23878393, PubMed:25490155). PI3KC3-C1 probably associates with PIK3CB (By similarity). Interacts with RAB7A in the presence of PIK3R4 (PubMed:14617358). Interacts with AMBRA1 (By similarity). Interacts with BECN1P1/BECN2 (PubMed:23954414). Interacts with SLAMF1(PubMed:22493499).

    Three dimensional structures from OCA and Proteopedia for PIK3C3 Gene

neXtProt entry for PIK3C3 Gene

Proteomics data for PIK3C3 Gene at MOPED

Post-translational modifications for PIK3C3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PIK3C3 (PIK3C3)
  • Cloud-Clone Corp. Antibodies for PIK3C3

Domains & Families for PIK3C3 Gene

Suggested Antigen Peptide Sequences for PIK3C3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NEB9

UniProtKB/Swiss-Prot:

PK3C3_HUMAN :
  • Contains 1 C2 PI3K-type domain.
  • Belongs to the PI3/PI4-kinase family.
Domain:
  • Contains 1 C2 PI3K-type domain.
  • Contains 1 PI3K/PI4K domain.
  • Contains 1 PIK helical domain.
Family:
  • Belongs to the PI3/PI4-kinase family.
genes like me logo Genes that share domains with PIK3C3: view

Function for PIK3C3 Gene

Molecular function for PIK3C3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol = ADP + 1-phosphatidyl-1D-myo-inositol 3-phosphate.
UniProtKB/Swiss-Prot Function:
Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530). Involved in the transport of lysosomal enzyme precursors to lysosomes. Required for transport from early to late endosomes (By similarity).

Enzyme Numbers (IUBMB) for PIK3C3 Gene

Gene Ontology (GO) - Molecular Function for PIK3C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding IEA --
genes like me logo Genes that share ontologies with PIK3C3: view
genes like me logo Genes that share phenotypes with PIK3C3: view

Animal Models for PIK3C3 Gene

MGI Knock Outs for PIK3C3:

Animal Model Products

  • Taconic Biosciences Mouse Models for PIK3C3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIK3C3 Gene

Localization for PIK3C3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIK3C3 Gene

Midbody. Late endosome. Cytoplasmic vesicle, autophagosome. Note=As component of the PI3K complex I localized to pre-autophagosome structures. As component of the PI3K complex II localized predominantly to endosomes (Probable). Localizes also to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme (By similarity). {ECO:0000250 UniProtKB:Q6PF93, ECO:0000305 PubMed:14617358}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIK3C3 Gene COMPARTMENTS Subcellular localization image for PIK3C3 gene
Compartment Confidence
cytosol 5
endosome 5
vacuole 4
peroxisome 3
lysosome 2
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PIK3C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005930 axoneme ISS --
GO:0034272 phosphatidylinositol 3-kinase complex, class III, type II IBA --
genes like me logo Genes that share ontologies with PIK3C3: view

Pathways & Interactions for PIK3C3 Gene

genes like me logo Genes that share pathways with PIK3C3: view

SIGNOR curated interactions for PIK3C3 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PIK3C3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0030242 pexophagy IBA --
GO:0032465 regulation of cytokinesis IMP 20643123
GO:0034162 toll-like receptor 9 signaling pathway TAS --
genes like me logo Genes that share ontologies with PIK3C3: view

Drugs & Compounds for PIK3C3 Gene

(25) Drugs for PIK3C3 Gene - From: Novoseek, DGIdb, HMDB, Tocris, DrugBank, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
N-(5-(4-CHLORO-3-(2-HYDROXY-ETHYLSULFAMOYL)- PHENYLTHIAZOLE-2-YL)-ACETAMIDE Experimental Pharma Target 0
3-Methyladenine Experimental Pharma Class III PI3K inhibitor 0
Quercetin Experimental Nutra Antitumor agent, Non-selective PI 3-kinase inhibitor 36
SF1126 Investigational Pharma inhibitor Kinase Inhibitors 0

(389) Additional Compounds for PIK3C3 Gene - From: HMDB, Tocris, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1D-Myo-inositol 1,3-bisphosphate
  • D-Myo-Inositol 1,3-bisphosphate
  • Inositol 1,3-bisphosphate
  • Inositol 1,3-diphosphate
  • Inositol(1,3)bisphosphate
  • Myo-inositol 1,3-bis(dihydrogen phosphate)
103597-56-4
1-Phosphatidyl-1D-myo-inositol 3-phosphate
  • 1-Phosphatidyl-1D-myo-inositol 3-phosphate
  • Phosphatidylinositol 3-phosphate
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
genes like me logo Genes that share compounds with PIK3C3: view

Transcripts for PIK3C3 Gene

Unigene Clusters for PIK3C3 Gene

Phosphatidylinositol 3-kinase, catalytic subunit type 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3C3 Gene

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:

Relevant External Links for PIK3C3 Gene

GeneLoc Exon Structure for
PIK3C3
ECgene alternative splicing isoforms for
PIK3C3

Expression for PIK3C3 Gene

mRNA expression in normal human tissues for PIK3C3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIK3C3 Gene

This gene is overexpressed in Lymph node (17.8) and Peripheral blood mononuclear cells (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIK3C3 Gene



SOURCE GeneReport for Unigene cluster for PIK3C3 Gene Hs.464971

mRNA Expression by UniProt/SwissProt for PIK3C3 Gene

Q8NEB9-PK3C3_HUMAN
Tissue specificity: Ubiquitously expressed, with a highest expression in skeletal muscle.
genes like me logo Genes that share expression patterns with PIK3C3: view

Protein tissue co-expression partners for PIK3C3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PIK3C3 Gene

Orthologs for PIK3C3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIK3C3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIK3C3 36
  • 100 (a)
OneToOne
PIK3C3 35
  • 99.66 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia PIK3C3 35
  • 92.71 (n)
  • 98.87 (a)
PIK3C3 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIK3C3 36
  • 99 (a)
OneToOne
PIK3C3 35
  • 93.76 (n)
  • 98.99 (a)
mouse
(Mus musculus)
Mammalia Pik3c3 16
Pik3c3 36
  • 98 (a)
OneToOne
Pik3c3 35
  • 87.75 (n)
  • 97.97 (a)
oppossum
(Monodelphis domestica)
Mammalia PIK3C3 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3C3 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pik3c3 35
  • 87 (n)
  • 98.08 (a)
chicken
(Gallus gallus)
Aves PIK3C3 35
  • 82.39 (n)
  • 93.68 (a)
PIK3C3 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIK3C3 36
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11237 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3c3 35
  • 77.31 (n)
  • 91.71 (a)
zebrafish
(Danio rerio)
Actinopterygii pik3c3 36
  • 88 (a)
OneToOne
pik3c3 35
  • 73.63 (n)
  • 85.52 (a)
wufc13g06 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010273 35
  • 41.33 (n)
  • 29.5 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pi3K59F 35
  • 58.99 (n)
  • 61.76 (a)
Pi3K59F 36
  • 55 (a)
OneToOne
Pi3K59F 37
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea vps-34 35
  • 50.83 (n)
  • 41.57 (a)
vps-34 37
  • 38 (a)
vps-34 36
  • 38 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL113C 35
  • 47.72 (n)
  • 39.3 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS34 36
  • 37 (a)
OneToMany
VPS34 38
VPS34 35
  • 48.13 (n)
  • 39.35 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18645g 35
  • 47.98 (n)
  • 38.65 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9995 35
soybean
(Glycine max)
eudicotyledons Gma.2544 35
thale cress
(Arabidopsis thaliana)
eudicotyledons VPS34 35
  • 53.23 (n)
  • 45.77 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.11305 35
rice
(Oryza sativa)
Liliopsida Os.11111 35
Os05g0180600 35
  • 51.98 (n)
  • 44.94 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.28795 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00656 35
  • 48.62 (n)
  • 45.98 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pik3 35
  • 53.36 (n)
  • 46.6 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5903 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3927 36
  • 59 (a)
OneToOne
Species with no ortholog for PIK3C3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PIK3C3 Gene

ENSEMBL:
Gene Tree for PIK3C3 (if available)
TreeFam:
Gene Tree for PIK3C3 (if available)

Paralogs for PIK3C3 Gene

Paralogs for PIK3C3 Gene

genes like me logo Genes that share paralogs with PIK3C3: view

Variants for PIK3C3 Gene

Sequence variations from dbSNP and Humsavar for PIK3C3 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs9651 -- 42,081,184(+) ACCAC(A/G/T)TTAGG nc-transcript-variant, utr-variant-3-prime
rs52911 -- 41,974,975(-) TCAAA(A/C/G/T)TGACA intron-variant
rs486125 -- 42,061,891(+) GCATT(C/T)TACAC intron-variant
rs488202 -- 42,079,019(+) cattc(A/G)tgtat intron-variant
rs573835 -- 42,014,860(-) AAGTA(A/G)CCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PIK3C3 Gene

Variant ID Type Subtype PubMed ID
nsv909566 CNV Gain 21882294
esv34153 CNV Loss 18971310
nsv909567 CNV Gain 21882294
nsv909568 CNV Gain 21882294
nsv507870 CNV Insertion 20534489
esv2717009 CNV Deletion 23290073
esv2674644 CNV Deletion 23128226
esv1001271 CNV Insertion 20482838
esv2717010 CNV Deletion 23290073
esv2316444 CNV Deletion 18987734
esv2717011 CNV Deletion 23290073
esv2717012 CNV Deletion 23290073
esv1518239 CNV Deletion 17803354
nsv131226 CNV Loss 16902084
nsv833631 CNV Loss 17160897

Variation tolerance for PIK3C3 Gene

Residual Variation Intolerance Score: 2.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIK3C3 Gene

HapMap Linkage Disequilibrium report
PIK3C3
Human Gene Mutation Database (HGMD)
PIK3C3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3C3 Gene

Disorders for PIK3C3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PIK3C3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PIK3C3

Genetic Association Database (GAD)
PIK3C3
Human Genome Epidemiology (HuGE) Navigator
PIK3C3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIK3C3
genes like me logo Genes that share disorders with PIK3C3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIK3C3 Gene

Publications for PIK3C3 Gene

  1. A human phosphatidylinositol 3-kinase complex related to the yeast Vps34p-Vps15p protein sorting system. (PMID: 7628435) Volinia S. … Waterfield M.D. (EMBO J. 1995) 2 3 4 67
  2. PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody. (PMID: 20208530) Sagona A.P. … Stenmark H. (Nat. Cell Biol. 2010) 3 23
  3. Resveratrol-induced apoptosis depends on the lipid kinase activity of Vps34 and on the formation of autophagolysosomes. (PMID: 18048384) Trincheri N.F. … Isidoro C. (Carcinogenesis 2008) 3 23
  4. Beclin 1 forms two distinct phosphatidylinositol 3-kinase complexes with mammalian Atg14 and UVRAG. (PMID: 18843052) Itakura E. … Mizushima N. (Mol. Biol. Cell 2008) 3 23
  5. SopB promotes phosphatidylinositol 3-phosphate formation on Salmonella vacuoles by recruiting Rab5 and Vps34. (PMID: 18725540) Mallo G.V. … Brumell J.H. (J. Cell Biol. 2008) 3 23

Products for PIK3C3 Gene

Sources for PIK3C3 Gene

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