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    PLCZ1 phospholipase C zeta 1 [ Homo sapiens (human) ]

    Gene ID: 89869, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PLCZ1provided by HGNC
    Official Full Name
    phospholipase C zeta 1provided by HGNC
    Primary source
    HGNC:HGNC:19218
    See related
    Ensembl:ENSG00000139151 MIM:608075; AllianceGenome:HGNC:19218
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPGF17; PLCzeta; NYD-SP27; PLC-zeta-1
    Summary
    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]
    Expression
    Restricted expression toward testis (RPKM 5.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See PLCZ1 in Genome Data Viewer
    Location:
    12p12.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (18645609..18738012, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (18521542..18613927, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (18836114..18890946, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma Neighboring gene uncharacterized LOC124902891 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:18607193-18607708 Neighboring gene NANOG hESC enhancer GRCh37_chr12:18609221-18609722 Neighboring gene zinc finger with KRAB and SCAN domains 7 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:18843163-18844362 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:18876609-18877808 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 9 Neighboring gene uncharacterized LOC102724227 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:18906323-18906894 Neighboring gene capping actin protein of muscle Z-line subunit alpha 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Motile sperm organelle morphology evaluation-selected globozoospermic human sperm with an acrosomal bud exhibits novel patterns and higher levels of phospholipase C zeta. Kashir J, et al. Hum Reprod, 2012 Nov. PMID 22940771
    2. The establishment of appropriate methods for egg-activation by human PLCZ1 RNA injection into human oocyte. Yamaguchi T, et al. Cell Calcium, 2017 Jul. PMID 28320563
    3. An association between sperm PLCζ levels and varicocele? Janghorban-Laricheh E, et al. J Assist Reprod Genet, 2016 Dec. PMID 27612872, Free PMC Article
    4. Does advancing male age influence the expression levels and localisation patterns of phospholipase C zeta (PLCζ) in human sperm? Yeste M, et al. Sci Rep, 2016 Jun 8. PMID 27270687, Free PMC Article
    5. Phospholipase C zeta (PLCζ) and male infertility: Clinical update and topical developments. Amdani SN, et al. Adv Biol Regul, 2016 May. PMID 26700242

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel PLCZ1 mutation caused polyspermy during in vitro fertilization.
      Title: Novel PLCZ1 mutation caused polyspermy during in vitro fertilization.
    2. Phospholipase C Zeta in Human Spermatozoa: A Systematic Review on Current Development and Clinical Application.
      Title: Phospholipase C Zeta in Human Spermatozoa: A Systematic Review on Current Development and Clinical Application.
    3. Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure.
      Title: Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure.
    4. Antigen unmasking does not improve the visualization of phospholipase C zeta in human spermatozoa.
      Title: Antigen unmasking does not improve the visualization of phospholipase C zeta in human spermatozoa.
    5. Novel mutations in the PLCZ1 gene associated with human low or failed fertilization.
      Title: Novel mutations in the PLCZ1 gene associated with human low or failed fertilization.
    6. Novel mutations in PLCZ1 cause male infertility due to fertilization failure or poor fertilization.
      Title: Novel mutations in PLCZ1 cause male infertility due to fertilization failure or poor fertilization.
    7. A novel homozygous mutation of phospholipase C zeta leading to defective human oocyte activation and fertilization failure.
      Title: A novel homozygous mutation of phospholipase C zeta leading to defective human oocyte activation and fertilization failure.
    8. Identification and treatment of men with phospholipase Czeta-defective spermatozoa.
      Title: Identification and treatment of men with phospholipase Cζ-defective spermatozoa.
    9. Use of phospholipase C zeta analysis to identify candidates for artificial oocyte activation: a case series of clinical pregnancies and a proposed algorithm for patient management.
      Title: Use of phospholipase C zeta analysis to identify candidates for artificial oocyte activation: a case series of clinical pregnancies and a proposed algorithm for patient management.
    10. Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.
      Title: Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.
    Submit: New GeneRIF Correction See all GeneRIFs (48)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 17
    MedGen: C4310666 OMIM: 617214 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 envelope glycoproteins gp120 and gp160 directly and specifically impair the CD3/TcR-mediated activation of phospholipase C (PLC) via the CD4 molecule in uninfected T cells PubMed
    Tat tat Phospholipase C/protein kinase C pathway-dependent phosphorylation of p44/42 and JNK MAP kinases is partially involved in IL-1beta induction by HIV-1 Tat PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC149685

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol phospholipase C activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol phospholipase C activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol phospholipase C activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables phosphatidylinositol-3-phosphate binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-5-phosphate binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in egg activation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration involved in egg activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cytosolic calcium ion concentration involved in egg activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in pronucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm head IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1
    Names
    PI-phospholipase C zeta 1
    phosphoinositide phospholipase C-zeta-1
    testicular tissue protein Li 145
    testis-development related NYD-SP27
    NP_001317698.1
    NP_001317703.1
    NP_149114.2
    XP_016875665.1
    XP_016875666.1
    XP_016875667.1
    XP_016875671.1
    XP_016875672.1
    XP_016875673.1
    XP_016875674.1
    XP_024305022.1
    XP_024305023.1
    XP_047285783.1
    XP_047285784.1
    XP_054229730.1
    XP_054229731.1
    XP_054229732.1
    XP_054229733.1
    XP_054229734.1
    XP_054229735.1
    XP_054229736.1
    XP_054229737.1
    XP_054229738.1
    XP_054229739.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052826.1 RefSeqGene

      Range
      5048..59880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330769.1 → NP_001317698.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks three consecutive exons in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter, but has the same N- and C-termini as isoform 1.
      Source sequence(s)
      AA812556, BC125067, DB038101
      Consensus CDS
      CCDS81671.1
      UniProtKB/TrEMBL
      Q8N7S5
      Related
      ENSP00000445026.1, ENST00000539875.5
      Conserved Domains (4) summary
      cd00275
      Location:288 → 413
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd15898
      Location:1 → 32
      EFh_PI-PLC; EF-hand motif [structural motif]
      cl14615
      Location:35 → 259
      PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily
      cl28895
      Location:1 → 48
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes

    2. NM_001330774.2 → NP_001317703.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (2) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AA812556, AK314516, BC125067
      UniProtKB/Swiss-Prot
      Q86YW0

    3. NM_033123.4 → NP_149114.2  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform 1

      See identical proteins and their annotated locations for NP_149114.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF532185, DB038101, HY197954
      Consensus CDS
      CCDS8680.1
      UniProtKB/Swiss-Prot
      Q08AQ7, Q86YW0, Q96J70
      UniProtKB/TrEMBL
      A0A140VJR9, A0A3B3ISW9
      Related
      ENSP00000266505.7, ENST00000266505.12
      Conserved Domains (4) summary
      cd00275
      Location:481 → 606
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08595
      Location:154 → 452
      PI-PLCc_zeta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-zeta
      PLN02952
      Location:71 → 607
      PLN02952; phosphoinositide phospholipase C
      pfam09279
      Location:72 → 154
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      18645609..18738012 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429828.1 → XP_047285784.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X10

    2. XM_017020183.2 → XP_016875672.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X6

      UniProtKB/TrEMBL
      Q8N7S5

    3. XM_017020178.2 → XP_016875667.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X3

      UniProtKB/TrEMBL
      A0A3B3ISW9

    4. XM_017020177.2 → XP_016875666.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X2

      UniProtKB/TrEMBL
      A0A3B3ISW9

    5. XM_017020176.2 → XP_016875665.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3ISW9
      Related
      ENSP00000497636.1, ENST00000648272.1

    6. XM_017020185.3 → XP_016875674.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X10

      UniProtKB/TrEMBL
      Q8N7S5
      Related
      ENSP00000445880.1, ENST00000538330.5
      Conserved Domains (2) summary
      cd00275
      Location:263 → 386
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cl14615
      Location:1 → 234
      PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily

    7. XM_017020184.2 → XP_016875673.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X8

      UniProtKB/TrEMBL
      Q8N7S5

    8. XM_017020182.2 → XP_016875671.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X5

      UniProtKB/TrEMBL
      Q8N7S5

    9. XM_024449255.2 → XP_024305023.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X9

      UniProtKB/TrEMBL
      Q8N7S5
      Conserved Domains (4) summary
      cd00275
      Location:288 → 413
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd15898
      Location:1 → 32
      EFh_PI-PLC; EF-hand motif [structural motif]
      cl14615
      Location:35 → 259
      PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily
      cl28895
      Location:1 → 48
      EFh_PI-PLC; EF-hand motif found in eukaryotic phosphoinositide-specific phospholipase C (PI-PLC, EC 3.1.4.11) isozymes

    10. XM_024449254.2 → XP_024305022.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X7

      UniProtKB/TrEMBL
      Q8N7S5
      Conserved Domains (2) summary
      cl14615
      Location:3 → 305
      PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily
      cl27705
      Location:3 → 460
      PI-PLC-Y; Phosphatidylinositol-specific phospholipase C, Y domain

    11. XM_047429827.1 → XP_047285783.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X4

    RNA

    1. XR_001748912.2 RNA Sequence

      Related
      ENST00000318197.10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      18521542..18613927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373757.1 → XP_054229732.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X11

    2. XM_054373756.1 → XP_054229731.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X2

    3. XM_054373755.1 → XP_054229730.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X1

    4. XM_054373763.1 → XP_054229738.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X14

    5. XM_054373761.1 → XP_054229736.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X9

    6. XM_054373760.1 → XP_054229735.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X12

    7. XM_054373764.1 → XP_054229739.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X14

    8. XM_054373762.1 → XP_054229737.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X13

    9. XM_054373759.1 → XP_054229734.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X7

    10. XM_054373758.1 → XP_054229733.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform X4

    RNA

    1. XR_008488710.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YW0.1 GenPept UniProtKB/Swiss-Prot:Q86YW0

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