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 spermato... See more...

Aliases for PLCZ1 Gene

Aliases for PLCZ1 Gene

  • Phospholipase C Zeta 1 2 3 5
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Zeta-1 3 4
  • Phosphoinositide Phospholipase C-Zeta-1 3 4
  • EC 3.1.4.11 4 51
  • PLC-Zeta-1 3 4
  • NYD-SP27 2 3
  • PLCzeta 2 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
  • SPGF17 3
  • PLCZ1 5

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 Spermatogenic Failure 9. Among its related pathways are Sweet Taste Signaling and Activation of cAMP-Dependent PKA. Gene Ontology (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 Summary 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.

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLCZ1 Gene

Genomics for PLCZ1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLCZ1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J018738 Promoter 0.5 EPDnew 600.7 +0.1 68 0.1 ATF7 CREB1 CAPZA3 PLCZ1 lnc-RERGL-6 ENSG00000255648 RERGL
GH12J019154 Enhancer 1 Ensembl ENCODE dbSUPER 9.5 -424.8 -424801 19 CTBP1 OSR2 YY1 ZNF217 ATF2 JUND DPF2 RAD21 ZNF513 HNF4A PLEKHA5 CAPZA3 PLCZ1 PSMC1P9 RN7SL459P HSALNG0089685 lnc-PLCZ1-2 ENSG00000253284 LOC112268092
GH12J018697 Enhancer 0.8 Ensembl ENCODE 11.3 +40.8 40799 0.6 IKZF1 JUND DPF2 TCF12 EP300 CEBPB FOS NCOR1 TAL1 ATF3 CAPZA3 PLCZ1 PSMC1P9 lnc-RERGL-5 RERGL PIK3C2G
GH12J018689 Enhancer 0.7 Ensembl ENCODE 11.6 +47.4 47387 2.3 JUND HMBOX1 CEBPB FOS TAL1 ATF3 NFE2L2 CBFA2T3 PLCZ1 CAPZA3 PSMC1P9 lnc-PIK3C2G-3 RERGL PIK3C2G
GH12J018797 Enhancer 0.7 Ensembl ENCODE 11.1 -60.3 -60300 1.6 SOX13 ZBTB26 SOX5 MAX RAD51 ARID3A USF2 ZNF384 HNF1A CAPZA3 PLCZ1 lnc-CAPZA3-3 LOC102724227 piR-58674 PLEKHA5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLCZ1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLCZ1

Top Transcription factor binding sites by QIAGEN in the PLCZ1 gene promoter:
  • AML1a
  • Cdc5
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-AT
  • NF-AT1
  • NF-AT2
  • Nkx2-2

Genomic Locations for PLCZ1 Gene

Genomic Locations for PLCZ1 Gene
chr12:18,645,529-18,738,100
(GRCh38/hg38)
Size:
92,572 bases
Orientation:
Minus strand
chr12:18,836,103-18,890,991
(GRCh37/hg19)
Size:
54,889 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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PLCZ1 Gene

Suggested Antigen Peptide Sequences for PLCZ1 Gene

GenScript: Design optimal peptide antigens:
  • Testis-development protein NYD-SP27 (PLCZ1_HUMAN)
  • cDNA FLJ40406 fis, clone TESTI2037534, weakly similar to 1-PHOSPHATIDYLINOSITOL-4,5-BISPHOSPHATE PHOSPHODIESTERASE DELTA 1 (EC 3.1.4.11) (Q8N7S5_HUMAN)
  • cDNA FLJ40236 fis, clone TESTI2023214, weakly similar to 1-PHOSPHATIDYLINOSITOL-4,5-BISPHOSPHATE PHOSPHODIESTERASE DELTA 1 (EC 3.1.4.11) (Q8N7X7_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = 1D-myo-inositol 1,4,5-trisphosphate + a 1,2-diacyl-sn-glycerol + H(+); Xref=Rhea:RHEA:33179, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:58456, ChEBI:CHEBI:203600; EC=3.1.4.11; Evidence={ECO:0000250|UniProtKB:P10688};.

Enzyme Numbers (IUBMB) for PLCZ1 Gene

Phenotypes From GWAS Catalog 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 IEA,NAS 26116451
GO:0004629 phospholipase C activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 28270562
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

Human Phenotype Ontology for PLCZ1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PLCZ1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCZ1

No data available for 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
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PLCZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IBA,IDA 18322275
GO:0005654 nucleoplasm IEA --
GO:0005730 nucleolus IEA --
GO:0005737 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

PathCards logo

SuperPathways for PLCZ1 Gene

SuperPathway Contained pathways
1 Inositol phosphate metabolism (KEGG)
2 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
3 Sweet Taste Signaling
.72
.72
.46
.37
4 CREB Pathway
.68
.68
.63
5 NFAT and Cardiac Hypertrophy
.42
.42
.37
genes like me logo Genes that share pathways with PLCZ1: view

Pathways by source for PLCZ1 Gene

1 GeneGo (Thomson Reuters) pathway for PLCZ1 Gene
  • Anandamide biosynthesis and metabolism
35 Qiagen pathways for PLCZ1 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
  • Aldosterone Signaling in Epithelial Cells
1 GeneTex pathway for PLCZ1 Gene

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:0007204 positive regulation of cytosolic calcium ion concentration IMP 26721930
GO:0007275 multicellular organism development 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

(3) Drugs for PLCZ1 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Calcium Nutra 6556
AACOCF3 Pharma Inhibitor of cPLA2/anandamide hydrolysis/FAAH, Phospholipase A2 inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (5Z,8Z,11Z)-icosa-5,8,11,14-tetraenoic acid
  • DG(15:0/0:0/20:4n6)
  • Diacylglycerol(15:0/0:0/20:4)
  • DG(35:4)
  • DAG(15:0/0:0/20:4)
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
Inositol 1,4,5-trisphosphate
  • 1,4,5-Insp3
  • D-myo-Inositol 1,4,5-trisphosphate
  • D-myo-INOSITOL-1,4,5-triphosphATE
  • Ins(1,4,5)P3
  • InsP3
88269-39-0

(5) Tocris Compounds for PLCZ1 Gene

Compound Action Cas Number
AACOCF3 Phospholipase A2 inhibitor 149301-79-1
Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist 77286-66-9
m-3M3FBS Phospholipase C activator 200933-14-8
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

mRNA/cDNA for PLCZ1 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCZ1

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

Expression for PLCZ1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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 and MOPED for PLCZ1 Gene



Protein tissue co-expression partners for PLCZ1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

No data available for 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 30 31
  • 99.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLCZ1 30 31
  • 87.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLCZ1 30 31
  • 85.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Plcz1 30 17 31
  • 78.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plcz1 30
  • 78.13 (n)
Oppossum
(Monodelphis domestica)
Mammalia PLCZ1 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLCZ1 30 31
  • 67.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLCZ1 31
  • 53 (a)
OneToOne
Species where no ortholog for PLCZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PLCZ1: view image

Paralogs for PLCZ1 Gene

(11) SIMAP similar genes for PLCZ1 Gene using alignment to 15 proteins:

  • PLCZ1_HUMAN
  • C9IZ68_HUMAN
  • F5GYE4_HUMAN
  • F5GZK3_HUMAN
  • F5H2D7_HUMAN
  • F5H2Y6_HUMAN
  • F5H3L4_HUMAN
  • F5H474_HUMAN
  • F5H828_HUMAN
  • H0YFH9_HUMAN
  • H0YGH7_HUMAN
  • H0YGY7_HUMAN
  • H0YH40_HUMAN
  • Q8N7S5_HUMAN
  • Q8N7X7_HUMAN
genes like me logo Genes that share paralogs with PLCZ1: view

Variants for PLCZ1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLCZ1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs757326350 Pathogenic: Spermatogenic failure 17. Spermatogenic failure 17 (SPGF17) [MIM:617214] 18,688,215(-) T/Ap.Ile489Phe MISSENSE_VARIANT
rs10505830 - p.Ser500Leu

Additional dbSNP identifiers (rs#s) for PLCZ1 Gene

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)

Additional Variant Information for PLCZ1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PLCZ1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PLCZ1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 17
  • spgf17
spermatogenic failure 9
  • globozoospermia
infertility
varicocele
  • scrotal varices
cystic fibrosis
  • cf
- 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.

Additional Disease Information for PLCZ1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  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 41
  3. NYD-SP27, a novel intrinsic decapacitation factor in sperm. (PMID: 19252507) Bi Y … Sha JH (Asian journal of andrology 2009) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for PLCZ1 Gene

Sources for PLCZ1 Gene