Seroatlas · Human Serome Atlas

PLCB1

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1

Also known as: KIAA0581, PLC-I, PLC154, PLCB1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9NQ66
Gene: PLCB1
Ensembl: ENSG00000182621
Chromosome: 20
Canonical length: 1216 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1216 residues, UniProt reviewed canonical sequence.

>Q9NQ66|PLCB1
     1  MAGAQPGVHA LQLKPVCVSD SLKKGTKFVK WDDDSTIVTP IILRTDPQGF FFYWTDQNKE
    61  TELLDLSLVK DARCGRHAKA PKDPKLRELL DVGNIGRLEQ RMITVVYGPD LVNISHLNLV
   121  AFQEEVAKEW TNEVFSLATN LLAQNMSRDA FLEKAYTKLK LQVTPEGRIP LKNIYRLFSA
   181  DRKRVETALE ACSLPSSRND SIPQEDFTPE VYRVFLNNLC PRPEIDNIFS EFGAKSKPYL
   241  TVDQMMDFIN LKQRDPRLNE ILYPPLKQEQ VQVLIEKYEP NNSLARKGQI SVDGFMRYLS
   301  GEENGVVSPE KLDLNEDMSQ PLSHYFINSS HNTYLTAGQL AGNSSVEMYR QVLLSGCRCV
   361  ELDCWKGRTA EEEPVITHGF TMTTEISFKE VIEAIAECAF KTSPFPILLS FENHVDSPKQ
   421  QAKMAEYCRL IFGDALLMEP LEKYPLESGV PLPSPMDLMY KILVKNKKKS HKSSEGSGKK
   481  KLSEQASNTY SDSSSMFEPS SPGAGEADTE SDDDDDDDDC KKSSMDEGTA GSEAMATEEM
   541  SNLVNYIQPV KFESFEISKK RNKSFEMSSF VETKGLEQLT KSPVEFVEYN KMQLSRIYPK
   601  GTRVDSSNYM PQLFWNAGCQ MVALNFQTMD LAMQINMGMY EYNGKSGYRL KPEFMRRPDK
   661  HFDPFTEGIV DGIVANTLSV KIISGQFLSD KKVGTYVEVD MFGLPVDTRR KAFKTKTSQG
   721  NAVNPVWEEE PIVFKKVVLP TLACLRIAVY EEGGKFIGHR ILPVQAIRPG YHYICLRNER
   781  NQPLTLPAVF VYIEVKDYVP DTYADVIEAL SNPIRYVNLM EQRAKQLAAL TLEDEEEVKK
   841  EADPGETPSE APSEARTTPA ENGVNHTTTL TPKPPSQALH SQPAPGSVKA PAKTEDLIQS
   901  VLTEVEAQTI EELKQQKSFV KLQKKHYKEM KDLVKRHHKK TTDLIKEHTT KYNEIQNDYL
   961  RRRAALEKSA KKDSKKKSEP SSPDHGSSTI EQDLAALDAE MTQKLIDLKD KQQQQLLNLR
  1021  QEQYYSEKYQ KREHIKLLIQ KLTDVAEECQ NNQLKKLKEI CEKEKKELKK KMDKKRQEKI
  1081  TEAKSKDKSQ MEEEKTEMIR SYIQEVVQYI KRLEEAQSKR QEKLVEKHKE IRQQILDEKP
  1141  KLQVELEQEY QDKFKRLPLE ILEFVQEAMK GKISEDSNHG SAPLSLSSDP GKVNHKTPSS
  1201  EELGGDIPGK EFDTPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLCB1 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): 0.32
Highest tissue expression: 45 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 45 nTPM
parathyroid gland: 42 nTPM
basal ganglia: 39 nTPM
salivary gland: 27 nTPM
hippocampal formation: 23 nTPM
amygdala: 20 nTPM

Single-cell type

salivary acinar cells: 2,856 nCPM
lacrimal acinar cells: 2,680 nCPM
brain inhibitory neurons: 2,361 nCPM
loop of henle epithelial cells: 1,861 nCPM
retinal ganglion cells: 1,561 nCPM
mesothelial cells: 1,374 nCPM

Immune cell

MAIT T-cell: 1.9 nTPM
gdT-cell: 1.4 nTPM
classical monocyte: 1.3 nTPM
eosinophil: 1.2 nTPM
NK-cell: 1.1 nTPM
neutrophil: 0.8 nTPM

Brain region

cerebral cortex: 269 nTPM
basal ganglia: 228 nTPM
white matter: 164 nTPM
hippocampal formation: 146 nTPM
amygdala: 131 nTPM
thalamus: 113 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PLCB1.

Disease | AllUniProt

Conditions PLCB1 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 12 (DEE12) MIM:613722

Disease | GeneticClinVar

28 pathogenic / likely-pathogenic of 1,245 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 0.3
gnomAD pLI: 0.98
gnomAD missense Z: 3.83
DepMap mean gene effect: 0.13
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 PLCB1 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 PLCB1 as an antibody target. Whether an autoantibody or antibody against PLCB1 could matter depends on whether native PLCB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PLCB1 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 PLCB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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