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

Gene ID: 89869, updated on 11-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (18645609..18738012, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (18521542..18613927, complement)
105.20220307 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
  • 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. Antigen unmasking does not improve the visualization of phospholipase C zeta in human spermatozoa. Meng X, et al. Asian J Androl, 2022 Jul-Aug. PMID 34893574, Free PMC Article
  2. Novel mutations in the PLCZ1 gene associated with human low or failed fertilization. Yuan P, et al. Mol Genet Genomic Med, 2020 Oct. PMID 32840018, Free PMC Article
  3. Identification and treatment of men with phospholipase Cζ-defective spermatozoa. Cheung S, et al. Fertil Steril, 2020 Sep. PMID 32712020
  4. 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. Meng X, et al. Fertil Steril, 2020 Jul. PMID 32622408
  5. Increasing associations between defects in phospholipase C zeta and conditions of male infertility: not just ICSI failure? Kashir J. J Assist Reprod Genet, 2020 Jun. PMID 32285298, Free PMC Article

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Identification and treatment of men with phospholipase Czeta-defective spermatozoa.
    Title: Identification and treatment of men with phospholipase Cζ-defective spermatozoa.
  8. 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.
  9. 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.
  10. The alteration of PLCzeta protein expression in unexplained infertile and asthenoteratozoospermic patients: A potential effect on sperm fertilization ability.
    Title: The alteration of PLCζ protein expression in unexplained infertile and asthenoteratozoospermic patients: A potential effect on sperm fertilization ability.
Submit: New GeneRIF Correction See all GeneRIFs (47)

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 egg activation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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_2023_10

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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