PLCB3

Protein identityUniProt · HPA

UniProt accession

Q01970

Gene

PLCB3

Ensembl

ENSG00000149782

Chromosome

11

Canonical length

1234 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

1234 residues, UniProt reviewed canonical sequence.

>Q01970|PLCB3
     1  MAGAQPGVHA LQLEPPTVVE TLRRGSKFIK WDEETSSRNL VTLRVDPNGF FLYWTGPNME
    61  VDTLDISSIR DTRTGRYARL PKDPKIREVL GFGGPDARLE EKLMTVVSGP DPVNTVFLNF
   121  MAVQDDTAKV WSEELFKLAM NILAQNASRN TFLRKAYTKL KLQVNQDGRI PVKNILKMFS
   181  ADKKRVETAL ESCGLKFNRS ESIRPDEFSL EIFERFLNKL CLRPDIDKIL LEIGAKGKPY
   241  LTLEQLMDFI NQKQRDPRLN EVLYPPLRPS QARLLIEKYE PNQQFLERDQ MSMEGFSRYL
   301  GGEENGILPL EALDLSTDMT QPLSAYFINS SHNTYLTAGQ LAGTSSVEMY RQALLWGCRC
   361  VELDVWKGRP PEEEPFITHG FTMTTEVPLR DVLEAIAETA FKTSPYPVIL SFENHVDSAK
   421  QQAKMAEYCR SIFGDALLIE PLDKYPLAPG VPLPSPQDLM GRILVKNKKR HRPSAGGPDS
   481  AGRKRPLEQS NSALSESSAA TEPSSPQLGS PSSDSCPGLS NGEEVGLEKP SLEPQKSLGD
   541  EGLNRGPYVL GPADREDEEE DEEEEEQTDP KKPTTDEGTA SSEVNATEEM STLVNYIEPV
   601  KFKSFEAARK RNKCFEMSSF VETKAMEQLT KSPMEFVEYN KQQLSRIYPK GTRVDSSNYM
   661  PQLFWNVGCQ LVALNFQTLD VAMQLNAGVF EYNGRSGYLL KPEFMRRPDK SFDPFTEVIV
   721  DGIVANALRV KVISGQFLSD RKVGIYVEVD MFGLPVDTRR KYRTRTSQGN SFNPVWDEEP
   781  FDFPKVVLPT LASLRIAAFE EGGKFVGHRI LPVSAIRSGY HYVCLRNEAN QPLCLPALLI
   841  YTEASDYIPD DHQDYAEALI NPIKHVSLMD QRARQLAALI GESEAQAGQE TCQDTQSQQL
   901  GSQPSSNPTP SPLDASPRRP PGPTTSPAST SLSSPGQRDD LIASILSEVA PTPLDELRGH
   961  KALVKLRSRQ ERDLRELRKK HQRKAVTLTR RLLDGLAQAQ AEGRCRLRPG ALGGAADVED
  1021  TKEGEDEAKR YQEFQNRQVQ SLLELREAQV DAEAQRRLEH LRQALQRLRE VVLDANTTQF
  1081  KRLKEMNERE KKELQKILDR KRHNSISEAK MRDKHKKEAE LTEINRRHIT ESVNSIRRLE
  1141  EAQKQRHDRL VAGQQQVLQQ LAEEEPKLLA QLAQECQEQR ARLPQEIRRS LLGEMPEGLG
  1201  DGPLVACASN GHAPGSSGHL SGADSESQEE NTQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLCB3 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)

0.34

Highest tissue expression

107 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PLCB3.

Disease | AllUniProt

Conditions PLCB3 is implicated in, by any mechanism.

• Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD) MIM:618961

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 177 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spondylometaphyseal dysplasia with corneal dystrophy

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)

0.31

gnomAD pLI

0.94

gnomAD missense Z

3.27

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• G protein-coupled receptor signaling pathway
• lipid catabolic process
• phosphatidylinositol metabolic process
• phosphatidylinositol-mediated signaling
• phospholipase C-activating G protein-coupled receptor signaling pathway
• phospholipase C-activating serotonin receptor signaling pathway
• regulation of systemic arterial blood pressure
• release of sequestered calcium ion into cytosol

Molecular functions

• cadherin binding
• calcium ion binding
• calmodulin binding
• molecular adaptor activity
• molecular function activator activity
• phosphatidylinositol phospholipase C activity
• phosphatidylinositol-4,5-bisphosphate phospholipase C activity
• phospholipase C activity

Cellular components

• cytoplasm
• cytosol
• membrane
• nucleus
• postsynaptic cytosol
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• C2 domain
• Phosphatidylinositol-specific phospholipase C, X domain
• Phosphoinositide phospholipase C family
• Phospholipase C, phosphatidylinositol-specific, Y domain
• EF-hand domain pair
• Phospholipase C-beta, C-terminal domain
• Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta
• PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
• C2 domain superfamily
• PLC-beta, PH domain
• Phospholipase C-beta, C-terminal domain superfamily
• Phosphoinositide phospholipase C beta 1-4-like, EF-hand domain
• C2 domain
• Phosphatidylinositol-specific phospholipase C, Y domain
• Phosphatidylinositol-specific phospholipase C, X domain
• PLC-beta C terminal
• PH domain
• Phosphoinositide phospholipase C beta1-4-like EF-hand domain

KeywordsUniProt

• Acetylation
• Calcium
• Cytoplasm
• Dwarfism
• Hydrolase
• Lipid degradation
• Lipid metabolism
• Membrane
• Nucleus
• Phosphoprotein
• Transducer

InteractionsUniProt · HPA

Protein binding partners of PLCB3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• LPAR2
• SHANK2
• PRKAR1A