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Aliases for PLCZ1 Gene

Aliases for PLCZ1 Gene

  • Phospholipase C Zeta 1 2 3 5
  • Phosphoinositide Phospholipase C-Zeta-1 3 4
  • EC 3.1.4.11 4 58
  • PLC-Zeta-1 3 4
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Zeta-1 3
  • Testis-Development Related NYD-SP27 3
  • Testis-Development Protein NYD-SP27 4
  • Testicular Tissue Protein Li 145 3
  • PI-Phospholipase C Zeta 1 3
  • Phospholipase C, Zeta 1 2
  • Phospholipase C-Zeta-1 4
  • NYD-SP27 3
  • PLCzeta 3
  • SPGF17 3

External Ids for PLCZ1 Gene

Previous GeneCards Identifiers for PLCZ1 Gene

  • GC12M018980
  • GC12M018736
  • GC12M018727

Summaries for PLCZ1 Gene

Entrez Gene Summary for PLCZ1 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]

GeneCards Summary for PLCZ1 Gene

PLCZ1 (Phospholipase C Zeta 1) is a Protein Coding gene. Diseases associated with PLCZ1 include Spermatogenic Failure 17 and Varicocele. Among its related pathways are Calcium signaling pathway and Metabolism. GO annotations related to this gene include calcium ion binding and phosphoric diester hydrolase activity. An important paralog of this gene is PLCD4.

UniProtKB/Swiss-Prot for PLCZ1 Gene

  • 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.

Tocris Summary for PLCZ1 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

Additional gene information for PLCZ1 Gene

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCZ1 Gene

Genomics for PLCZ1 Gene

Regulatory Elements for PLCZ1 Gene

Enhancers for PLCZ1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H018697 0.6 ENCODE 11.3 +40.9 40918 0 JUND SMARCA4 NCOR1 IKZF1 FOS DPF2 PLCZ1 CAPZA3 PSMC1P9 ENSG00000255648
GH12H018689 0.5 ENCODE 11.6 +47.3 47347 2 JUND TAL1 HMBOX1 FOS PLCZ1 CAPZA3 PSMC1P9 GC12P018648
GH12H018798 0.5 ENCODE 11.1 -60.6 -60648 0 SOX5 SOX13 HNF1A ZNF384 ZBTB26 CAPZA3 PLCZ1 PIR53734 GC12M018976 GC12P018788
GH12H018702 0.4 ENCODE 11.9 +34.3 34266 1 NR2F2 CAPZA3 PLCZ1 ENSG00000255648 PSMC1P9
GH12H018700 0.4 ENCODE 11.9 +37.6 37578 0 JUND FOS CAPZA3 PLCZ1 PSMC1P9 ENSG00000255648
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLCZ1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PLCZ1 Gene

Chromosome:
12
Start:
18,641,990 bp from pter
End:
18,738,059 bp from pter
Size:
96,070 bases
Orientation:
Minus strand

Genomic View for PLCZ1 Gene

Genes around PLCZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLCZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCZ1 Gene

Proteins for PLCZ1 Gene

  • Protein details for PLCZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YW0-PLCZ1_HUMAN
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1
    Protein Accession:
    Q86YW0
    Secondary Accessions:
    • Q08AQ7
    • Q96J70

    Protein attributes for PLCZ1 Gene

    Size:
    608 amino acids
    Molecular mass:
    70411 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts via its C2 domain with PtdIns(3)P and, to a lesser extent, PtdIns(5)P in vitro.

    Alternative splice isoforms for PLCZ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLCZ1 Gene

Selected DME Specific Peptides for PLCZ1 Gene

Q86YW0:
  • LSDLVIY
  • RVIKKNAF
  • VYQDMTHPL
  • KGCRCLE
  • NPQEFWN
  • LSLENHCS
  • TSKLLFKTVIQAI
  • LCMNKGYRR
  • WNETFTF
  • TLTIRLISGIQLP
  • SSHNTYL
  • EIIQKYEPI
  • VALNFQT
  • LPSPEALKFK
  • HGYTLTSK

Post-translational modifications for PLCZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PLCZ1 Gene

Gene Families for PLCZ1 Gene

Graphical View of Domain Structure for InterPro Entry

Q86YW0

UniProtKB/Swiss-Prot:

PLCZ1_HUMAN :
  • The EF-hand and C2 domains are essential for triggering Ca(2+) oscillating activity and the regulation of PLCZ1 enzyme activity.
Domain:
  • The EF-hand and C2 domains are essential for triggering Ca(2+) oscillating activity and the regulation of PLCZ1 enzyme activity.
  • 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.
genes like me logo Genes that share domains with PLCZ1: view

Function for PLCZ1 Gene

Molecular function for PLCZ1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PLCZ1 Gene

Gene Ontology (GO) - Molecular Function for PLCZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS --
GO:0004629 phospholipase C activity IEA --
GO:0004871 signal transducer activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0008081 phosphoric diester hydrolase activity IEA --
genes like me logo Genes that share ontologies with PLCZ1: view
genes like me logo Genes that share phenotypes with PLCZ1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PLCZ1

CRISPR Products

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PLCZ1 Gene

Localization for PLCZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLCZ1 Gene

Nucleus. Cytoplasm, perinuclear region. 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). {ECO:0000250 UniProtKB:Q8K4D7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLCZ1 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PLCZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with PLCZ1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLCZ1 Gene

Pathways & Interactions for PLCZ1 Gene

genes like me logo Genes that share pathways with PLCZ1: view

Gene Ontology (GO) - Biological Process for PLCZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006816 calcium ion transport IEA --
GO:0007165 signal transduction IEA --
GO:0007275 multicellular organism development IEA --
GO:0007338 single fertilization IEA --
genes like me logo Genes that share ontologies with PLCZ1: view

No data available for SIGNOR curated interactions for PLCZ1 Gene

Drugs & Compounds for PLCZ1 Gene

(2) Drugs for PLCZ1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
calcium Nutra 0

(386) Additional Compounds for PLCZ1 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-behenoyl-sn-glycerol
  • 1-Tetradecanoyl-3-docosanoyl-sn-glycerol
  • DAG(14:0/0:0/22:0)
  • DAG(36:0)
  • DG(36:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
Inositol 1,4,5-trisphosphate
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
88269-39-0

(2) Tocris Compounds for PLCZ1 Gene

Compound Action Cas Number
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
U 73122 Phospholipase C inhibitor 112648-68-7
genes like me logo Genes that share compounds with PLCZ1: view

Transcripts for PLCZ1 Gene

Unigene Clusters for PLCZ1 Gene

Phospholipase C, zeta 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLCZ1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: - - - - - - - - - - - -
SP5: -
SP6: - -
SP7: - - -
SP8: - - -
SP9: - -
SP10: - -
SP11:
SP12:

ExUns: 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PLCZ1 Gene

GeneLoc Exon Structure for
PLCZ1
ECgene alternative splicing isoforms for
PLCZ1

Expression for PLCZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLCZ1 Gene

mRNA differential expression in normal tissues according to GTEx for PLCZ1 Gene

This gene is overexpressed in Testis (x50.4).

Protein differential expression in normal tissues from HIPED for PLCZ1 Gene

This gene is overexpressed in Pancreatic juice (63.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLCZ1 Gene



Protein tissue co-expression partners for PLCZ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLCZ1 Gene:

PLCZ1

SOURCE GeneReport for Unigene cluster for PLCZ1 Gene:

Hs.97542

mRNA Expression by UniProt/SwissProt for PLCZ1 Gene:

Q86YW0-PLCZ1_HUMAN
Tissue specificity: Expressed specifically in testis and sperm. Weakly expressed in pancreatic-duct cells. Up-regulated in pancreatic-duct cells from patients with cystic fibrosis.
genes like me logo Genes that share expression patterns with PLCZ1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCZ1 Gene

Orthologs for PLCZ1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLCZ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLCZ1 33 34
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia PLCZ1 33 34
  • 87.88 (n)
cow
(Bos Taurus)
Mammalia PLCZ1 33 34
  • 85.46 (n)
mouse
(Mus musculus)
Mammalia Plcz1 33 16 34
  • 78.68 (n)
rat
(Rattus norvegicus)
Mammalia Plcz1 33
  • 78.13 (n)
oppossum
(Monodelphis domestica)
Mammalia PLCZ1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLCZ1 33 34
  • 67.83 (n)
lizard
(Anolis carolinensis)
Reptilia PLCZ1 34
  • 53 (a)
OneToOne
Species where no ortholog for PLCZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PLCZ1 Gene

ENSEMBL:
Gene Tree for PLCZ1 (if available)
TreeFam:
Gene Tree for PLCZ1 (if available)

Paralogs for PLCZ1 Gene

Variants for PLCZ1 Gene

Sequence variations from dbSNP and Humsavar for PLCZ1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs757326350 Pathogenic, Spermatogenic failure 17 (SPGF17) [MIM:617214] 18,688,215(+) ACTGA(A/C/T)GAGCT intron-variant, nc-transcript-variant, reference, missense
rs1000017843 -- 18,660,102(+) ATTTT(A/G)GAATC intron-variant
rs1000040908 -- 18,694,667(+) TTTGA(C/G)AGGAG intron-variant
rs1000042639 -- 18,672,324(+) ACAAA(A/C)CTTTC intron-variant
rs1000067427 -- 18,667,023(+) TAATG(A/G)TGTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLCZ1 Gene

Variant ID Type Subtype PubMed ID
esv3628740 CNV loss 21293372
nsv557672 CNV loss 21841781
nsv983290 CNV duplication 23825009

Variation tolerance for PLCZ1 Gene

Residual Variation Intolerance Score: 35.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLCZ1 Gene

Human Gene Mutation Database (HGMD)
PLCZ1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCZ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCZ1 Gene

Disorders for PLCZ1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PLCZ1 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 17
  • male infertility due to oocyte activation failure
varicocele
  • scrotal varices
male reproductive system disease
  • genital diseases, male
infertility
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search PLCZ1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLCZ1_HUMAN
  • Spermatogenic failure 17 (SPGF17) [MIM:617214]: An autosomal recessive infertility disorder due to failure of oocyte activation and fertilization by sperm that otherwise exhibits normal morphology. {ECO:0000269 PubMed:26721930}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PLCZ1

Genetic Association Database (GAD)
PLCZ1
Human Genome Epidemiology (HuGE) Navigator
PLCZ1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLCZ1
genes like me logo Genes that share disorders with PLCZ1: view

No data available for Genatlas for PLCZ1 Gene

Publications for PLCZ1 Gene

  1. Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP. (PMID: 26721930) Escoffier J … Arnoult C (Human molecular genetics 2016) 3 4 60
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  3. NYD-SP27, a novel intrinsic decapacitation factor in sperm. (PMID: 19252507) Bi Y … Sha JH (Asian journal of andrology 2009) 3 22 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Rescue of defective pancreatic secretion in cystic-fibrosis cells by suppression of a novel isoform of phospholipase C. (PMID: 14697805) Zhu H … Chang Chan H (Lancet (London, England) 2003) 3 4 60

Products for PLCZ1 Gene

Sources for PLCZ1 Gene

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