NLRP5

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis.

Full Name

NLR FAMILY PYRIN DOMAIN CONTAINING 5

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 Ca2+ 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).

Biological Process

Actin filament organizationISS:UniProtKB
Cortical granule exocytosisISS:UniProtKB
Establishment of organelle localizationISS:UniProtKB
Establishment of spindle localizationISS:UniProtKB
ExocytosisISS:UniProtKB
Positive regulation of embryonic developmentISS:UniProtKB
Regulation of cell divisionISS:UniProtKB
Regulation of localizationISS:UniProtKB

Cellular Location

Cytoplasmic vesicle, secretory vesicle, Cortical granule
Mitochondrion
Nucleus, nucleolus
Cytoplasm
Golgi apparatus

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.

PTM

Phosphorylated by PRKCE.