NLRP5
Developmental stage
Expressed at all stages during oocyte maturation, additionally expressed in granulosa cells and cumulus oophorus cells (PubMed:19192343). Expressed primarily with other SCMC components in the subcortex of oocytes and early embryos (PubMed:25542835). Expression is excluded from cell-cell contact regions after the 2-cell stage (PubMed:25542835).
Function
As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions via regulation of actin dynamics (By similarity). Required for the formation of F-actin cytoplasmic lattices (CPL) in oocytes, which in turn are responsible for symmetric division of zygotes via the regulation of mitotic spindle formation and positioning (By similarity). Required for the localization of cortical granules to the cortex of oocytes, via association with the cortical actin scaffold (By similarity). Required for cortical actin clearance prior to oocyte exocytosis (By similarity). Involved in regulating post-fertilization Ca(2+) release and endoplasmic reticulum (ER) storage via regulation of ER localization (By similarity). May be involved in the localization of mitochondria to the cytoplasm and perinuclear region in oocytes and early stage embryos, independent of its role in CPL formation (By similarity).
Involvement in disease
NLRP5 variants have been found in a spectrum of phenotypes characterized by aberrant methylation of multiple imprinted loci, a condition known as multi-locus imprinting defect or multi-locus imprinting disturbance (MLID). MLID-related phenotype spectrum ranges from intrauterine death to different types of imprinting disorders, including Beckwith-Wiedemann syndrome (BWS), Silver-Russell syndrome (SRS), and non-specific developmental and behavioral manifestations. MLID has also been observed in individuals without overt clinical manifestations. Recurrent pregnancy loss has been reported in healthy women carrying NLRP5 variants.
Oocyte/zygote/embryo maturation arrest 19
OZEMA19
An autosomal recessive female infertility disorder characterized by reduced fertilization rate, oocyte maturation arrest at germinal vesicle stage, and early embryonic arrest.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by PRKCE.
Sequence Similarities
Belongs to the NLRP family.
Tissue Specificity
Expressed in cumulus cells (at protein level) (PubMed:19542546). Highly abundant in oocytes and early embryos, however poorly expressed in somatic tissues such as the liver and spinal cord (PubMed:11925379, PubMed:30877238).
Cellular localization
- Cytoplasmic vesicle
- Secretory vesicle
- Cortical granule
- Mitochondrion
- Nucleus
- Nucleolus
- Cytoplasm
- Golgi apparatus
Alternative names
MATER, NALP5, NLRP5, Mater protein homolog, Maternal Antigen that Embryos Require