PLCD1

Protein identityUniProt · HPA

UniProt accession

P51178

Gene

PLCD1

Ensembl

ENSG00000187091

Chromosome

3

Canonical length

756 aa

Protein class

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

Subcellular location

Microtubules

OverviewNCBI Gene

This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

756 residues, UniProt reviewed canonical sequence.

>P51178|PLCD1
     1  MDSGRDFLTL HGLQDDEDLQ ALLKGSQLLK VKSSSWRRER FYKLQEDCKT IWQESRKVMR
    61  TPESQLFSIE DIQEVRMGHR TEGLEKFARD VPEDRCFSIV FKDQRNTLDL IAPSPADAQH
   121  WVLGLHKIIH HSGSMDQRQK LQHWIHSCLR KADKNKDNKM SFKELQNFLK ELNIQVDDSY
   181  ARKIFRECDH SQTDSLEDEE IEAFYKMLTQ RVEIDRTFAE AAGSGETLSV DQLVTFLQHQ
   241  QREEAAGPAL ALSLIERYEP SETAKAQRQM TKDGFLMYLL SADGSAFSLA HRRVYQDMGQ
   301  PLSHYLVSSS HNTYLLEDQL AGPSSTEAYI RALCKGCRCL ELDCWDGPNQ EPIIYHGYTF
   361  TSKILFCDVL RAIRDYAFKA SPYPVILSLE NHCTLEQQRV MARHLHAILG PMLLNRPLDG
   421  VTNSLPSPEQ LKGKILLKGK KLGGLLPPGG EGGPEATVVS DEDEAAEMED EAVRSRVQHK
   481  PKEDKLRLAQ ELSDMVIYCK SVHFGGFSSP GTPGQAFYEM ASFSENRALR LLQESGNGFV
   541  RHNVGHLSRI YPAGWRTDSS NYSPVEMWNG GCQIVALNFQ TPGPEMDVYQ GRFQDNGACG
   601  YVLKPAFLRD PNGTFNPRAL AQGPWWARKR LNIRVISGQQ LPKVNKNKNS IVDPKVTVEI
   661  HGVSRDVASR QTAVITNNGF NPWWDTEFAF EVVVPDLALI RFLVEDYDAS SKNDFIGQST
   721  IPLNSLKQGY RHVHLMSKNG DQHPSATLFV KISLQD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLCD1 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

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

34 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PLCD1.

Disease | AllUniProt

Conditions PLCD1 is implicated in, by any mechanism.

• Nail disorder, non-syndromic congenital, 3 (NDNC3) MIM:151600

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 249 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Nonsyndromic congenital nail disorder 3
• PLCD1-related disorder

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)

1.1

gnomAD pLI

0

gnomAD missense Z

0.24

DepMap mean gene effect

0.03

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

• lipid catabolic process
• phosphatidylinositol metabolic process
• phospholipase C/protein kinase C signal transduction
• phospholipid metabolic process

Molecular functions

• calcium ion binding
• GTPase activating protein binding
• phosphatidic acid binding
• phosphatidylinositol phospholipase C activity
• phosphatidylinositol-4,5-bisphosphate binding
• phosphatidylinositol-4,5-bisphosphate phospholipase C activity
• phosphatidylserine binding

Cellular components

• cytoplasm
• extracellular exosome
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• C2 domain
• Phosphatidylinositol-specific phospholipase C, X domain
• Phosphoinositide phospholipase C family
• Phospholipase C, phosphatidylinositol-specific, Y domain
• Pleckstrin homology domain
• EF-hand domain
• EF-hand domain pair
• PH-like domain superfamily
• Phosphoinositide-specific phospholipase C, EF-hand-like domain
• PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
• EF-Hand 1, calcium-binding site
• C2 domain superfamily
• C2 domain
• Phosphatidylinositol-specific phospholipase C, Y domain
• Phosphatidylinositol-specific phospholipase C, X domain
• Phosphoinositide-specific phospholipase C, efhand-like
• Pleckstrin homology domain
• 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1, catalytic domain
• 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1, EF-hand domain

KeywordsUniProt

• Calcium
• Glycoprotein
• Hydrolase
• Lipid degradation
• Lipid metabolism
• Metal-binding
• Phosphoprotein
• Repeat
• Transducer

InteractionsUniProt · HPA

Protein binding partners of PLCD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TGM2