P59047
uniprot
P59047
canonical
amino_acid_sequence
MKVAGGLELGAAALLSASPRALVTLSTGPTCSILPKNPLFPQNLSSQPCIKMEGDKSLTFSSYGLQWCLYELDKEEFQTFKELLKKKSSESTTCSIPQFEIENANVECLALLLHEYYGASLAWATSISIFENMNLRTLSEKARDDMKRHSPEDPEATMTDQGPSKEKVPGISQAVQQDSATAAETKEQEISQAMEQEGATAAETEEQEISQAMEQEGATAAETEEQGHGGDTWDYKSHVMTKFAEEEDVRRSFENTAADWPEMQTLAGAFDSDRWGFRPRTVVLHGKSGIGKSALARRIVLCWAQGGLYQGMFSYVFFLPVREMQRKKESSVTEFISREWPDSQAPVTEIMSRPERLLFIIDGFDDLGSVLNNDTKLCKDWAEKQPPFTLIRSLLRKVLLPESFLIVTVRDVGTEKLKSEVVSPRYLLVRGISGEQRIHLLLERGIGEHQKTQGLRAIMNNRELLDQCQVPAVGSLICVALQLQDVVGESVAPFNQTLTGLHAAFVFHQLTPRGVVRRCLNLEERVVLKRFCRMAVEGVWNRKSVFDGDDLMVQGLGESELRALFHMNILLPDSHCEEYYTFFHLSLQDFCAALYYVLEGLEIEPALCPLYVEKTKRSMELKQAGFHIHSLWMKRFLFGLVSEDVRRPLEVLLGCPVPLGVKQKLLHWVSLLGQQPNATTPGDTLDAFHCLFETQDKEFVRLALNSFQEVWLPINQNLDLIASSFCLQHCPYLRKIRVDVKGIFPRDESAEACPVVPLWMRDKTLIEEQWEDFCSMLGTHPHLRQLDLGSSILTERAMKTLCAKLRHPTCKIQTLMFRNAQITPGVQHLWRIVMANRNLRSLNLGGTHLKEEDVRMACEALKHPKCLLESLRLDCCGLTHACYLKISQILTTSPSLKSLSLAGNKVTDQGVMPLSDALRVSQCALQKLILEDCGITATGCQSLASALVSNRSLTHLCLSNNSLGNEGVNLLCRSMRLPHCSLQRLMLNQCHLDTAGCGFLALALMGNSWLTHLSLSMNPVEDNGVKLLCEVMREPSCHLQDLELVKCHLTAACCESLSCVISRSRHLKSLDLTDNALGDGGVAALCEGLKQKNSVLARLGLKACGLTSDCCEALSLALSCNRHLTSLNLVQNNFSPKGMMKLCSAFACPTSNLQIIGLWKWQYPVQIRKLLEEVQLLKPRVVIDGSWHSFDEDDRYWWKN
uniprot
proteins
disease_involvement
DISEASE: Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) [MIM:620333]: An autosomal recessive female infertility disorder characterized by reduced fertilization rate, oocyte maturation arrest at germinal vesicle stage, and early embryonic arrest. {ECO:0000269|PubMed:30877238, ECO:0000269|PubMed:32222962, ECO:0000269|PubMed:33020905, ECO:0000269|PubMed:33073652, ECO:0000269|PubMed:35946397, ECO:0000269|PubMed:39887367, ECO:0000269|PubMed:40225929, ECO:0000269|PubMed:41783765}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=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. {ECO:0000269|PubMed:26323243, ECO:0000269|PubMed:30218098, ECO:0000269|PubMed:31829238}.
uniprot
proteins
function
FUNCTION: Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development (PubMed:38868925). The SCMC complex is a structural constituent of cytoplasmic lattices, which consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos (PubMed:41118754). They are required to store maternal proteins critical for embryonic development, such as ribosomal proteins, cytoskeletal tubulins and proteins controlling epigenetic reprogramming of the preimplantation embryo, in a poised but restrained state, regulating their availability for early embryonic development (PubMed:24374158, PubMed:38868925). Cytoplasmic lattices also tightly control ubiquitination during the oocyte-to-embryo transition by trapping E3 ubiquitin-protein ligase UHRF1 in a compact autoinhibited conformation and maintaining SCF ubiquitin ligase complexes inactive (PubMed:38868925). 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 and prevention of polyspermy (By similarity). Involved in regulating post-fertilization Ca(2+) release and endoplasmic reticulum storage (ER) storage via regulation of cellular 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). {ECO:0000250|UniProtKB:Q9R1M5, ECO:0000269|PubMed:24374158, ECO:0000269|PubMed:38868925, ECO:0000269|PubMed:41118754}.
uniprot
proteins
mass_dalton
134342
uniprot
proteins
mutagenesis
MUTAGEN 60..63; /note="FSSY->ASSA: Impaired formation of the subcortical maternal complex (SCMC)."; /evidence="ECO:0000269|PubMed:39379527"; MUTAGEN 71; /note="E->A: Impaired formation of the subcortical maternal complex (SCMC)."; /evidence="ECO:0000269|PubMed:39379527"; MUTAGEN 107; /note="E->A: Impaired formation of the subcortical maternal complex (SCMC)."; /evidence="ECO:0000269|PubMed:39379527
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by PRKCE. {ECO:0000269|PubMed:19542546}.
uniprot
proteins
protein_family
NLRP family
uniprot
proteins
pubmed
11925379
uniprot
proteins
pubmed
12563287
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
19192343
uniprot
proteins
pubmed
19542546
uniprot
proteins
pubmed
24374158
uniprot
proteins
pubmed
25542835
uniprot
proteins
pubmed
26323243
uniprot
proteins
pubmed
28501589
uniprot
proteins
pubmed
30218098
uniprot
proteins
pubmed
30877238
uniprot
proteins
pubmed
31829238
uniprot
proteins
pubmed
32222962
uniprot
proteins
pubmed
33020905
uniprot
proteins
pubmed
33073652
uniprot
proteins
pubmed
35946397
uniprot
proteins
pubmed
37148315
uniprot
proteins
pubmed
37922900
uniprot
proteins
pubmed
38868925
uniprot
proteins
pubmed
39379527
uniprot
proteins
pubmed
39887367
uniprot
proteins
pubmed
40225929
uniprot
proteins
pubmed
41118754
uniprot
proteins
pubmed
41783765
uniprot
proteins
sequence_length
1200
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19192343, ECO:0000269|PubMed:19542546, ECO:0000269|PubMed:25542835, ECO:0000269|PubMed:37922900, ECO:0000269|PubMed:38868925}. Cytoplasmic vesicle, secretory vesicle, Cortical granule {ECO:0000269|PubMed:19192343}. Mitochondrion {ECO:0000269|PubMed:19192343}. Nucleus, nucleolus {ECO:0000269|PubMed:19192343, ECO:0000269|PubMed:25542835}. Golgi apparatus {ECO:0000269|PubMed:19192343}. Note=Core component of cytoplasmic lattices in oocytes (PubMed:37922900). In the subcortical cytoplasm of early embryos from the 1-cell to the blastocyst stages (By similarity). From the 2-cell stage, still detected in the subcortex, but excluded from cell-cell contact regions (By similarity). Expression largely disappears in blastocysts (By similarity). Located in mitochondria and nucleoli in primary follicle oocytes (By similarity). {ECO:0000250|UniProtKB:Q9R1M5, ECO:0000269|PubMed:37922900}.
uniprot
proteins