Seroatlas · Human Serome Atlas

PIK3CD

Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform

Also known as: p110D, PK3CD_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O00329
Gene: PIK3CD
Ensembl: ENSG00000171608
Chromosome: 1
Canonical length: 1044 aa
Protein class: Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, RAS pathway related proteins
Subcellular location: Vesicles,Microtubules,Cytokinetic bridge,Primary cilium,Primary cilium tip,Cytosol

OverviewNCBI Gene

Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

1044 residues, UniProt reviewed canonical sequence.

>O00329|PIK3CD
     1  MPPGVDCPME FWTKEENQSV VVDFLLPTGV YLNFPVSRNA NLSTIKQLLW HRAQYEPLFH
    61  MLSGPEAYVF TCINQTAEQQ ELEDEQRRLC DVQPFLPVLR LVAREGDRVK KLINSQISLL
   121  IGKGLHEFDS LCDPEVNDFR AKMCQFCEEA AARRQQLGWE AWLQYSFPLQ LEPSAQTWGP
   181  GTLRLPNRAL LVNVKFEGSE ESFTFQVSTK DVPLALMACA LRKKATVFRQ PLVEQPEDYT
   241  LQVNGRHEYL YGSYPLCQFQ YICSCLHSGL TPHLTMVHSS SILAMRDEQS NPAPQVQKPR
   301  AKPPPIPAKK PSSVSLWSLE QPFRIELIQG SKVNADERMK LVVQAGLFHG NEMLCKTVSS
   361  SEVSVCSEPV WKQRLEFDIN ICDLPRMARL CFALYAVIEK AKKARSTKKK SKKADCPIAW
   421  ANLMLFDYKD QLKTGERCLY MWPSVPDEKG ELLNPTGTVR SNPNTDSAAA LLICLPEVAP
   481  HPVYYPALEK ILELGRHSEC VHVTEEEQLQ LREILERRGS GELYEHEKDL VWKLRHEVQE
   541  HFPEALARLL LVTKWNKHED VAQMLYLLCS WPELPVLSAL ELLDFSFPDC HVGSFAIKSL
   601  RKLTDDELFQ YLLQLVQVLK YESYLDCELT KFLLDRALAN RKIGHFLFWH LRSEMHVPSV
   661  ALRFGLILEA YCRGSTHHMK VLMKQGEALS KLKALNDFVK LSSQKTPKPQ TKELMHLCMR
   721  QEAYLEALSH LQSPLDPSTL LAEVCVEQCT FMDSKMKPLW IMYSNEEAGS GGSVGIIFKN
   781  GDDLRQDMLT LQMIQLMDVL WKQEGLDLRM TPYGCLPTGD RTGLIEVVLR SDTIANIQLN
   841  KSNMAATAAF NKDALLNWLK SKNPGEALDR AIEEFTLSCA GYCVATYVLG IGDRHSDNIM
   901  IRESGQLFHI DFGHFLGNFK TKFGINRERV PFILTYDFVH VIQQGKTNNS EKFERFRGYC
   961  ERAYTILRRH GLLFLHLFAL MRAAGLPELS CSKDIQYLKD SLALGKTEEE ALKHFRVKFN
  1021  EALRESWKTK VNWLAHNVSK DNRQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIK3CD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 45 nTPM

Expression across tissuesHPA

Tissue

spleen: 45 nTPM
bone marrow: 44 nTPM
lymph node: 42 nTPM
appendix: 29 nTPM
tonsil: 28 nTPM
thymus: 24 nTPM

Single-cell type

neutrophils: 828 nCPM
neutrophil progenitors: 341 nCPM
pdcs: 245 nCPM
monocyte progenitors: 191 nCPM
kupffer cells: 163 nCPM
nk-cells: 159 nCPM

Immune cell

neutrophil: 65 nTPM
eosinophil: 40 nTPM
total PBMC: 40 nTPM
non-classical monocyte: 30 nTPM
NK-cell: 28 nTPM
naive CD8 T-cell: 26 nTPM

Brain region

thalamus: 14 nTPM
white matter: 12 nTPM
pons: 11 nTPM
cerebral cortex: 9.6 nTPM
medulla oblongata: 9.6 nTPM
amygdala: 9.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIK3CD.

Disease | AllUniProt

Conditions PIK3CD is implicated in, by any mechanism.

Immunodeficiency 14A with lymphoproliferation, autosomal dominant (IMD14A) MIM:615513
Immunodeficiency 14B, autosomal recessive (IMD14B) MIM:619281
Roifman-Chitayat syndrome (ROCHIS) MIM:613328

Disease | GeneticClinVar

34 pathogenic / likely-pathogenic of 1,044 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Immunodeficiency 14
Immunodeficiency 14b, autosomal recessive
Combined immunodeficiency with faciooculoskeletal anomalies
Inherited Immunodeficiency Diseases
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.2
gnomAD pLI: 1
gnomAD missense Z: 4.27
DepMap mean gene effect: -0.17
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PIK3CD in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PIK3CD as an antibody target. Whether an autoantibody or antibody against PIK3CD could matter depends on whether native PIK3CD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PIK3CD is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PIK3CD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...