PIK3CD
entrez
5293
canonical
uniprot
O00329
canonical
ensembl
ENSG00000171608
resolver
ensp
ENSP00000354410
resolver
ensp
ENSP00000366563
resolver
ensp
ENSP00000513888
resolver
ensp
ENSP00000513889
resolver
ensp
ENSP00000513890
resolver
ensp
ENSP00000513891
resolver
ensp
ENSP00000513892
resolver
ensp
ENSP00000562346
resolver
ensp
ENSP00000562348
resolver
ensp
ENSP00000562349
resolver
ensp
ENSP00000602695
resolver
ensp
ENSP00000602696
resolver
ensp
ENSP00000602698
resolver
ensp
ENSP00000630539
resolver
ensp
ENSP00000630540
resolver
enst
ENST00000698710
resolver
enst
ENST00000698714
resolver
enst
ENST00000698715
resolver
enst
ENST00000932637
resolver
genesymbol
PIK3CD
resolver
hgnc
HGNC:8977
resolver
uniprot
A0A2K8FKV1
resolver
uniprot
A0A8V8TM31
resolver
uniprot
A0A8V8TM62
resolver
uniprot
A6NCG0
resolver
uniprot
A7E2E0
resolver
uniprot
B7ZM44
resolver
uniprot
G1FFP1
resolver
uniprot
O15445
resolver
uniprot
Q5SR49
resolver
uniprot_entry
A0A2K8FKV1_HUMAN
resolver
uniprot_entry
A0A8V8TM31_HUMAN
resolver
uniprot_entry
A0A8V8TM62_HUMAN
resolver
uniprot_entry
A7E2E0_HUMAN
resolver
uniprot_entry
B7ZM44_HUMAN
resolver
uniprot_entry
PK3CD_HUMAN
resolver
uniprot_sec
A6NCG0
resolver
uniprot_sec
G1FFP1
resolver
uniprot_sec
O15445
resolver
uniprot_sec
Q5SR49
resolver
activity_regulation
ACTIVITY REGULATION: Activated by growth factors and cytokine receptors through a tyrosine-kinase-dependent mechanism. Activated by RAS. IC87114 inhibits lipid kinase activity and is selective in cells at doses up to 5-10 uM. IC87114 blocks T-cell receptor signaling in naive and memory T-cells and reduces cytokine production by memory T-cells. {ECO:0000269|PubMed:20081091}.
uniprot
proteins
amino_acid_sequence
MPPGVDCPMEFWTKEENQSVVVDFLLPTGVYLNFPVSRNANLSTIKQLLWHRAQYEPLFHMLSGPEAYVFTCINQTAEQQELEDEQRRLCDVQPFLPVLRLVAREGDRVKKLINSQISLLIGKGLHEFDSLCDPEVNDFRAKMCQFCEEAAARRQQLGWEAWLQYSFPLQLEPSAQTWGPGTLRLPNRALLVNVKFEGSEESFTFQVSTKDVPLALMACALRKKATVFRQPLVEQPEDYTLQVNGRHEYLYGSYPLCQFQYICSCLHSGLTPHLTMVHSSSILAMRDEQSNPAPQVQKPRAKPPPIPAKKPSSVSLWSLEQPFRIELIQGSKVNADERMKLVVQAGLFHGNEMLCKTVSSSEVSVCSEPVWKQRLEFDINICDLPRMARLCFALYAVIEKAKKARSTKKKSKKADCPIAWANLMLFDYKDQLKTGERCLYMWPSVPDEKGELLNPTGTVRSNPNTDSAAALLICLPEVAPHPVYYPALEKILELGRHSECVHVTEEEQLQLREILERRGSGELYEHEKDLVWKLRHEVQEHFPEALARLLLVTKWNKHEDVAQMLYLLCSWPELPVLSALELLDFSFPDCHVGSFAIKSLRKLTDDELFQYLLQLVQVLKYESYLDCELTKFLLDRALANRKIGHFLFWHLRSEMHVPSVALRFGLILEAYCRGSTHHMKVLMKQGEALSKLKALNDFVKLSSQKTPKPQTKELMHLCMRQEAYLEALSHLQSPLDPSTLLAEVCVEQCTFMDSKMKPLWIMYSNEEAGSGGSVGIIFKNGDDLRQDMLTLQMIQLMDVLWKQEGLDLRMTPYGCLPTGDRTGLIEVVLRSDTIANIQLNKSNMAATAAFNKDALLNWLKSKNPGEALDRAIEEFTLSCAGYCVATYVLGIGDRHSDNIMIRESGQLFHIDFGHFLGNFKTKFGINRERVPFILTYDFVHVIQQGKTNNSEKFERFRGYCERAYTILRRHGLLFLHLFALMRAAGLPELSCSKDIQYLKDSLALGKTEEEALKHFRVKFNEALRESWKTKVNWLAHNVSKDNRQ
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 14A with lymphoproliferation, autosomal dominant (IMD14A) [MIM:615513]: A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses. {ECO:0000269|PubMed:24136356}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Immunodeficiency 14B, autosomal recessive (IMD14B) [MIM:619281]: An autosomal recessive, primary immunodeficiency characterized by recurrent sinopulmonary infections apparent in early childhood. Some patients may develop inflammatory bowel disease or osteomyelitis. Immunological features include hypogammaglobulinemia, decreased levels of B cells, and evidence of impaired immune-mediated cytotoxicity and defective T-cell function. {ECO:0000269|PubMed:30040974, ECO:0000269|PubMed:30336224}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Roifman-Chitayat syndrome (ROCHIS) [MIM:613328]: An autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures and ataxia, optic atrophy, dysmorphic facial features, distal skeletal anomalies, and recurrent invasive infections due to combined immunodeficiency. {ECO:0000269|PubMed:29180244}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Caused by the simultaneous occurrence of homozygous mutations in PIK3CD and KNSTRN. {ECO:0000269|PubMed:29180244}.
uniprot
proteins
ec_number
2.7.1.137
uniprot
proteins
ec_number
2.7.1.153
uniprot
proteins
function
FUNCTION: Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:9235916). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Mediates immune responses. Plays a role in B-cell development, proliferation, migration, and function. Required for B-cell receptor (BCR) signaling. Mediates B-cell proliferation response to anti-IgM, anti-CD40 and IL4 stimulation. Promotes cytokine production in response to TLR4 and TLR9. Required for antibody class switch mediated by TLR9. Involved in the antigen presentation function of B-cells. Involved in B-cell chemotaxis in response to CXCL13 and sphingosine 1-phosphate (S1P). Required for proliferation, signaling and cytokine production of naive, effector and memory T-cells. Required for T-cell receptor (TCR) signaling. Mediates TCR signaling events at the immune synapse. Activation by TCR leads to antigen-dependent memory T-cell migration and retention to antigenic tissues. Together with PIK3CG participates in T-cell development. Contributes to T-helper cell expansion and differentiation. Required for T-cell migration mediated by homing receptors SELL/CD62L, CCR7 and S1PR1 and antigen dependent recruitment of T-cells. Together with PIK3CG is involved in natural killer (NK) cell development and migration towards the sites of inflammation. Participates in NK cell receptor activation. Plays a role in NK cell maturation and cytokine production. Together with PIK3CG is involved in neutrophil chemotaxis and extravasation. Together with PIK3CG participates in neutrophil respiratory burst. Plays important roles in mast-cell development and mast cell mediated allergic response. Involved in stem cell factor (SCF)-mediated proliferation, adhesion and migration. Required for allergen-IgE-induced degranulation and cytokine release. The lipid kinase activity is required for its biological function. Isoform 2 may be involved in stabilizing total RAS levels, resulting in increased ERK phosphorylation and increased PI3K activity. {ECO:0000269|PubMed:15135396, ECO:0000269|PubMed:20081091, ECO:0000269|PubMed:22020336, ECO:0000269|PubMed:9235916}.
uniprot
proteins
mass_dalton
119479
uniprot
proteins
mutagenesis
MUTAGEN 894; /note="R->P: Abolishes lipid and protein kinase activities."; /evidence="ECO:0000269|PubMed:10064595"; MUTAGEN 1039; /note="S->A: Abolishes autophosphorylation, no effect on lipid kinase activity."; /evidence="ECO:0000269|PubMed:10064595"; MUTAGEN 1039; /note="S->D,E: Abolishes autophosphorylation, reduced lipid kinase activity."; /evidence="ECO:0000269|PubMed:10064595
uniprot
proteins
pathway_participation
PATHWAY: Phospholipid metabolism; phosphatidylinositol phosphate biosynthesis. {ECO:0000305|PubMed:15135396, ECO:0000305|PubMed:9113989}.
uniprot
proteins
post_translational_modification
PTM: Autophosphorylation on Ser-1039 results in the almost complete inactivation of the lipid kinase activity. {ECO:0000269|PubMed:10064595}.
uniprot
proteins
protein_family
PI3/PI4-kinase family
uniprot
proteins
pubmed
10064595
uniprot
proteins
pubmed
15135396
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17290298
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
20081091
uniprot
proteins
pubmed
20940048
uniprot
proteins
pubmed
22020336
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24136356
uniprot
proteins
pubmed
29180244
uniprot
proteins
pubmed
30040974
uniprot
proteins
pubmed
30336224
uniprot
proteins
pubmed
32606397
uniprot
proteins
pubmed
9113989
uniprot
proteins
pubmed
9235916
uniprot
proteins
sequence_length
1044
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22020336}.
uniprot
proteins