PLCZ1
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1
Also known as: NYD-SP27, PLCZ1_HUMAN, PLCzeta
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q86YW0
- Gene
- PLCZ1
- Ensembl
- ENSG00000139151
- Chromosome
- 12
- Canonical length
- 608 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
OverviewNCBI Gene
The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Canonical amino-acid sequenceUniProt
608 residues, UniProt reviewed canonical sequence.
>Q86YW0|PLCZ1
1 MEMRWFLSKI QDDFRGGKIN LEKTQRLLEK LDIRCSYIHV KQIFKDNDRL KQGRITIEEF
61 RAIYRIITHR EEIIEIFNTY SENRKILLAS NLAQFLTQEQ YAAEMSKAIA FEIIQKYEPI
121 EEVRKAHQMS LEGFTRYMDS RECLLFKNEC RKVYQDMTHP LNDYFISSSH NTYLVSDQLL
181 GPSDLWGYVS ALVKGCRCLE IDCWDGAQNE PVVYHGYTLT SKLLFKTVIQ AIHKYAFMTS
241 DYPVVLSLEN HCSTAQQEVM ADNLQATFGE SLLSDMLDDF PDTLPSPEAL KFKILVKNKK
301 IGTLKETHER KGSDKRGDNQ DKETGVKKLP GVMLFKKKKT RKLKIALALS DLVIYTKAEK
361 FKSFQHSRLY QQFNENNSIG ETQARKLSKL RVHEFIFHTR KFITRIYPKA TRADSSNFNP
421 QEFWNIGCQM VALNFQTPGL PMDLQNGKFL DNGGSGYILK PHFLRESKSY FNPSNIKEGM
481 PITLTIRLIS GIQLPLTHSS SNKGDSLVII EVFGVPNDQM KQQTRVIKKN AFSPRWNETF
541 TFIIHVPELA LIRFVVEGQG LIAGNEFLGQ YTLPLLCMNK GYRRIPLFSR MGESLEPASL
601 FVYVWYVRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PLCZ1 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)
- 0.23
- Highest tissue expression
- 40 nTPM
Expression across tissuesHPA
Tissue
- testis: 40 nTPM
- skin: 1.6 nTPM
- esophagus: 0.4 nTPM
- gallbladder: 0.3 nTPM
- heart muscle: 0.3 nTPM
- stomach: 0.3 nTPM
Single-cell type
- early spermatids: 821 nCPM
- late spermatids: 455 nCPM
- late primary spermatocytes: 278 nCPM
- epicardial cells: 32 nCPM
- proximal tubule cells: 19 nCPM
- mucous neck cells: 13 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- medulla oblongata: 1.3 nTPM
- hypothalamus: 1 nTPM
- spinal cord: 0.7 nTPM
- thalamus: 0.5 nTPM
- white matter: 0.5 nTPM
- cerebral cortex: 0.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PLCZ1.
Disease | AllUniProt
Conditions PLCZ1 is implicated in, by any mechanism.
- Spermatogenic failure 17 (SPGF17) MIM:617214
Disease | GeneticClinVar
13 pathogenic / likely-pathogenic of 96 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spermatogenic failure 17
- PLCZ1-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)
- 1.02
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.61
- DepMap mean gene effect
- 0.06
- 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
- calcium ion transport
- egg activation
- intracellular signal transduction
- lipid catabolic process
- positive regulation of cytosolic calcium ion concentration
- positive regulation of cytosolic calcium ion concentration involved in egg activation
Molecular functions
- calcium ion binding
- phosphatidylinositol-3-phosphate binding
- phosphatidylinositol-4,5-bisphosphate binding
- phosphatidylinositol-4,5-bisphosphate phospholipase C activity
- phosphatidylinositol-5-phosphate binding
Cellular components
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
- EF-hand domain pair
- Phosphoinositide-specific phospholipase C, EF-hand-like domain
- PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
- C2 domain superfamily
- C2 domain
- Phosphatidylinositol-specific phospholipase C, Y domain
- Phosphatidylinositol-specific phospholipase C, X domain
- Phosphoinositide-specific phospholipase C, efhand-like
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PLCZ1 as an antibody target. Whether an autoantibody or antibody against PLCZ1 could matter depends on whether native PLCZ1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PLCZ1 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 PLCZ1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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