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FLASH GENE
Symbol PLCZ1 contributors: mct - updated : 12-04-2021
HGNC name phospholipase C, zeta 1
HGNC id 19218
Corresponding disease
SPGF17 spermatogenic failure 17
Location 12p12.3      Physical location : 18.836.115 - 18.890.918
Synonym name
  • PI-phospholipase C zeta 1
  • testis-development related NYD-SP27
  • Synonym symbol(s) NYD-SP27, PLC-zeta-1, PLCzeta, SPGF17, MGC149685
    EC.number 3.1.4.11
    DNA
    TYPE functioning gene
    STRUCTURE 92.52 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2105 - 608 - 2007 17933795
    11 - 1456 - 415 - 2007 17933795
    15 - 2108 - 504 - 2007 17933795
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivesperm cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal EF-hand motif
  • central X and Y catalytic domains
  • a C terminal C2 domain
  • HOMOLOGY
    interspecies homolog to murine Plcz1
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nuclear envelope
    text
  • localized to acrosomal and post-acrosomal regions of sperm cells
  • basic FUNCTION
  • phosphoinositide phospholipase C activity
  • may be the molecular trigger for egg activation during fertilization
  • is a sperm-specific enzyme that initiates the Ca2+ oscillations in mammalian eggs that activate embryo development
  • potential role regulating not only egg activation but other sperm functions
  • sperm-derived phospholipase C-zeta (PLCZ1) is the key molecule that causes the Ca(2+) oscillations at fertilization
  • importance of PLCZ1 at fertilisation and vital role of the C2 domain in PLCZ1 function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    ion Ca2+ binding
    protein
  • potential role of an unstructured cluster of basic residues for binding of PLCZ1 to phospholipid membranes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPGF17
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low loss of function
    abnormal PLCZ1 expression is involved in the inability of human sperm to initiate [Ca(2+)](i) oscillations leading to failure of egg activation and sterility
    constitutional germinal mutation      
    maternally inherited autosomal point mutation in PLCZ1 leads to male infertility
    constitutional        
    absence of PLCZ1 alone is sufficient to prevent oocyte activation irrespective of the presence of WBP2NL
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • represents a novel diagnostic biomarker of oocyte activation capability
  • Therapy target
    SystemTypeDisorderPubmed
    reproductionfertility 
    possible mode of treatment for certain types of male infertility
    ANIMAL & CELL MODELS