NLRP5 Gene - NLR Family Pyrin Domain Containing 5
Key regulator of oocyte development and early embryogenesis
Gene Information Card
| Symbol | NLRP5 |
|---|---|
| Full Name | NLR family pyrin domain containing 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 126206 ncbi.nlm.nih.gov/gene/126206 |
| Ensembl ID | ENSG00000104884 |
| UniProt ID | P59047 |
| OMIM ID | 609658 |
| HGNC ID | 16444 |
| Aliases | MATER, PAN11, PYPAF11, CLR19.4 |
Description
NLRP5 (NLR family pyrin domain containing 5), also known as MATER, is a member of the NLR (nucleotide-binding domain and leucine-rich repeat containing) family. It is predominantly expressed in oocytes and plays a critical role in female fertility, early embryonic development, and the formation of the subcortical maternal complex (SCMC). Mutations in NLRP5 are associated with autosomal recessive infertility and early embryonic lethality.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infertility (female) | Loss-of-function mutations disrupt the subcortical maternal complex, impairing oocyte maturation and early embryogenesis. | ClinVar, OMIM |
| Embryonic lethality (preimplantation) | Homozygous or compound heterozygous mutations cause failure of embryonic development beyond the zygote stage. | OMIM #609658 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | Medium |
| Testis | 1.2 | Low |
| Adipose tissue | 0.3 | Not detected |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oocyte | 45.0 | High expression; primary site of function |
| Embryonic stem cells | 0.5 | Low/absent |
| HeLa | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2071C>T (p.Arg691Ter) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Likely loss of function; disrupts SCMC assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that truncate or destabilize NLRP5, impairing SCMC formation and oocyte competence.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0042802 - identical protein binding |
| • GO:0005737 - cytoplasm | • GO:0005634 - nucleus |
| • GO:0048471 - perinuclear region of cytoplasm | • GO:0001541 - ovarian follicle development |
| • GO:0001701 - in utero embryonic development |
Pathways
• Subcortical maternal complex (SCMC) formation
• Oocyte maturation and early embryogenesis
Protein Summary
NLRP5 is a 1201-amino acid protein containing an N-terminal pyrin domain, a central NACHT domain, and C-terminal leucine-rich repeats (LRRs). It is a core component of the subcortical maternal complex (SCMC) in oocytes and preimplantation embryos, essential for cytoskeletal organization, organelle distribution, and epigenetic reprogramming. Loss of NLRP5 function leads to female infertility due to early embryonic arrest.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NLRP5 Knockout HEK293 Cell Line | EDJ-KQ8868 | Human | 126206 | Details Get a Quote |
| NLRP5 Knockout HeLa Cell Line | EDJ-KQ58170 | Human | 126206 | Details Get a Quote |
| NLRP5 Knockout A-549 Cell Line | EDJ-KQ66658 | Human | 126206 | Details Get a Quote |
| NLRP5 Knockout HCT 116 Cell Line | EDJ-KQ75076 | Human | 126206 | Details Get a Quote |
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