Human Gene PLCZ1 (uc021qvx.2)
  Description: Homo sapiens phospholipase C, zeta 1 (PLCZ1), transcript variant 1, mRNA.
RefSeq Summary (NM_033123): 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].
Transcript (Including UTRs)
   Position: hg19 chr12:18,836,110-18,890,993 Size: 54,884 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr12:18,836,173-18,890,305 Size: 54,133 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:18,836,110-18,890,993)mRNA (may differ from genome)Protein (608 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PLCZ1_HUMAN
DESCRIPTION: RecName: Full=1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1; EC=3.1.4.11; AltName: Full=Phosphoinositide phospholipase C-zeta-1; AltName: Full=Phospholipase C-zeta-1; Short=PLC-zeta-1; AltName: Full=Testis-development protein NYD-SP27;
FUNCTION: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)- dependent manner. Triggers intracellular Ca(2+) oscillations in oocytes solely during M phase and is involved in inducing oocyte activation and initiating embryonic development up to the blastocyst stage. Is therefore a strong candidate for the egg- activating soluble sperm factor that is transferred from the sperm into the egg cytoplasm following gamete membrane fusion. May exert an inhibitory effect on phospholipase-C-coupled processes that depend on calcium ions and protein kinase C, including CFTR trafficking and function.
CATALYTIC ACTIVITY: 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
COFACTOR: Calcium (By similarity).
SUBUNIT: Interacts via its C2 domain with PtdIns(3)P and, to a lesser extent, PtdIns(5)P in vitro (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm, perinuclear region (By similarity). Note=Exhibits alternative cytoplasmic/nuclear localization during development. Translocates from the pronucleus into cytoplasm upon nuclear envelope breakdown for mitosis and localizes again to the pronucleus at interphase following meiosis and mitosis (By similarity).
TISSUE SPECIFICITY: Expressed specifically in testis. Weakly expressed in pancreatic-duct cells. Up-regulated in pancreatic- duct cells from patients with cystic fibrosis.
DOMAIN: The EF-hand and C2 domains are essential for triggering Ca(2+) oscillating activity and the regulation of PLCZ1 enzyme activity (By similarity).
DOMAIN: The X-Y linker region between PI-PLC X-box and Y-box domains may be a target for proteolysis and may play an important regulatory role during fertilization (By similarity).
SIMILARITY: Contains 1 C2 domain.
SIMILARITY: Contains 1 EF-hand domain.
SIMILARITY: Contains 1 PI-PLC X-box domain.
SIMILARITY: Contains 1 PI-PLC Y-box domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PLCZ1
CDC HuGE Published Literature: PLCZ1

-  MalaCards Disease Associations
  MalaCards Gene Search: PLCZ1
Diseases sorted by gene-association score: spermatogenic failure 17* (1279), varicocele (6), male reproductive system disease (5), infertility (5), cystic fibrosis (4), reproductive system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.49 RPKM in Testis
Total median expression: 30.11 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -66.00266-0.248 Picture PostScript Text
3' UTR -12.8063-0.203 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR018029 - C2_membr_targeting
IPR011992 - EF-hand-like_dom
IPR018249 - EF_HAND_2
IPR001192 - Pinositol_PLipase_C
IPR017946 - PLC-like_Pdiesterase_TIM-brl
IPR015359 - PLipase_C_EF-hand-like
IPR000909 - PLipase_C_PInositol-sp_X_dom
IPR001711 - PLipase_C_Pinositol-sp_Y

Pfam Domains:
PF00168 - C2 domain
PF00387 - Phosphatidylinositol-specific phospholipase C, Y domain
PF00388 - Phosphatidylinositol-specific phospholipase C, X domain
PF09279 - Phosphoinositide-specific phospholipase C, efhand-like

SCOP Domains:
47473 - EF-hand
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
51695 - PLC-like phosphodiesterases

ModBase Predicted Comparative 3D Structure on Q86YW0
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004629 phospholipase C activity
GO:0004871 signal transducer activity
GO:0005509 calcium ion binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0008081 phosphoric diester hydrolase activity
GO:0010314 phosphatidylinositol-5-phosphate binding
GO:0016787 hydrolase activity
GO:0032266 phosphatidylinositol-3-phosphate binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006816 calcium ion transport
GO:0007165 signal transduction
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007275 multicellular organism development
GO:0007338 single fertilization
GO:0007343 egg activation
GO:0016042 lipid catabolic process
GO:0035556 intracellular signal transduction
GO:0043647 inositol phosphate metabolic process
GO:0060470 positive regulation of cytosolic calcium ion concentration involved in egg activation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0045120 pronucleus
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AY035866 - Homo sapiens testis-development related NYD-SP27 mRNA, complete cds.
HM005458 - Homo sapiens clone HTL-T-145 testicular tissue protein Li 145 mRNA, complete cds.
AF532185 - Homo sapiens PLC-zeta (PLCZ1) mRNA, complete cds.
AK292279 - Homo sapiens cDNA FLJ78623 complete cds, highly similar to Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.
BC125067 - Homo sapiens phospholipase C, zeta 1, mRNA (cDNA clone MGC:149685 IMAGE:40117397), complete cds.
AK314516 - Homo sapiens cDNA, FLJ95335.
KJ903531 - Synthetic construct Homo sapiens clone ccsbBroadEn_12925 PLCZ1 gene, encodes complete protein.
AK097725 - Homo sapiens cDNA FLJ40406 fis, clone TESTI2037534, weakly similar to 1-PHOSPHATIDYLINOSITOL-4,5-BISPHOSPHATE PHOSPHODIESTERASE DELTA 1 (EC 3.1.4.11).
AK097555 - Homo sapiens cDNA FLJ40236 fis, clone TESTI2023214, weakly similar to 1-PHOSPHATIDYLINOSITOL-4,5-BISPHOSPHATE PHOSPHODIESTERASE DELTA 1 (EC 3.1.4.11).
JD511055 - Sequence 492079 from Patent EP1572962.
JD494489 - Sequence 475513 from Patent EP1572962.
JD435746 - Sequence 416770 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00562 - Inositol phosphate metabolism
hsa01100 - Metabolic pathways
hsa04020 - Calcium signaling pathway
hsa04070 - Phosphatidylinositol signaling system
hsa04114 - Oocyte meiosis

BioCyc Knowledge Library
LIPASYN-PWY - phospholipases
PWY-6351 - D-myo-inositol (1,4,5)-trisphosphate biosynthesis
PWY-6367 - D-myo-inositol-5-phosphate metabolism
PWY3DJ-219 - PIP metabolism

Reactome (by CSHL, EBI, and GO)

Protein Q86YW0 (Reactome details) participates in the following event(s):

R-HSA-1855177 PI(4,5)P2 is hydrolysed to I(1,4,5)P3 and DAG by cytosolic PLC[2] at the plasma membrane
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: NM_033123, NP_149114, PLCZ1_HUMAN, Q08AQ7, Q86YW0, Q96J70, uc021qvx.1
UCSC ID: uc021qvx.2
RefSeq Accession: NM_033123
Protein: Q86YW0 (aka PLCZ1_HUMAN)
CCDS: CCDS8680.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_033123.3
exon count: 15CDS single in 3' UTR: no RNA size: 2156
ORF size: 1827CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3756.00frame shift in genome: no % Coverage: 99.91
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 1
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.