NLRP7
entrez
199713
canonical
uniprot
Q8WX94
canonical
ensembl
ENSG00000167634
resolver
ensembl
ENSG00000274174
resolver
ensembl
ENSG00000274571
resolver
ensembl
ENSG00000275483
resolver
ensembl
ENSG00000276804
resolver
ensembl
ENSG00000277071
resolver
ensembl
ENSG00000277179
resolver
ensembl
ENSG00000277776
resolver
ensembl
ENSG00000277786
resolver
ensembl
ENSG00000278173
resolver
ensp
ENSP00000329568
resolver
ensp
ENSP00000339491
resolver
ensp
ENSP00000467123
resolver
ensp
ENSP00000468243
resolver
ensp
ENSP00000468706
resolver
ensp
ENSP00000480879
resolver
ensp
ENSP00000481565
resolver
enst
ENST00000586379
resolver
enst
ENST00000621787
resolver
enst
ENST00000621903
resolver
genesymbol
NLRP7
resolver
genesymbol_syn
NALP7
resolver
genesymbol_syn
NOD12
resolver
genesymbol_syn
PYPAF3
resolver
hgnc
HGNC:22947
resolver
uniprot
A0A0G2JNK3
resolver
uniprot
E9PE16
resolver
uniprot
K7ERG0
resolver
uniprot
Q32MH8
resolver
uniprot
Q7RTR1
resolver
uniprot_entry
A0A0G2JNK3_HUMAN
resolver
uniprot_entry
K7ERG0_HUMAN
resolver
uniprot_entry
NALP7_HUMAN
resolver
uniprot_sec
E9PE16
resolver
uniprot_sec
Q32MH8
resolver
uniprot_sec
Q7RTR1
resolver
amino_acid_sequence
MTSPQLEWTLQTLLEQLNEDELKSFKSLLWAFPLEDVLQKTPWSEVEEADGKKLAEILVNTSSENWIRNATVNILEEMNLTELCKMAKAEMMEDGQVQEIDNPELGDAEEDSELAKPGEKEGWRNSMEKQSLVWKNTFWQGDIDNFHDDVTLRNQRFIPFLNPRTPRKLTPYTVVLHGPAGVGKTTLAKKCMLDWTDCNLSPTLRYAFYLSCKELSRMGPCSFAELISKDWPELQDDIPSILAQAQRILFVVDGLDELKVPPGALIQDICGDWEKKKPVPVLLGSLLKRKMLPRAALLVTTRPRALRDLQLLAQQPIYVRVEGFLEEDRRAYFLRHFGDEDQAMRAFELMRSNAALFQLGSAPAVCWIVCTTLKLQMEKGEDPVPTCLTRTGLFLRFLCSRFPQGAQLRGALRTLSLLAAQGLWAQMSVFHREDLERLGVQESDLRLFLDGDILRQDRVSKGCYSFIHLSFQQFLTALFYALEKEEGEDRDGHAWDIGDVQKLLSGEERLKNPDLIQVGHFLFGLANEKRAKELEATFGCRMSPDIKQELLQCKAHLHANKPLSVTDLKEVLGCLYESQEEELAKVVVAPFKEISIHLTNTSEVMHCSFSLKHCQDLQKLSLQVAKGVFLENYMDFELDIEFERCTYLTIPNWARQDLRSLRLWTDFCSLFSSNSNLKFLEVKQSFLSDSSVRILCDHVTRSTCHLQKVEIKNVTPDTAYRDFCLAFIGKKTLTHLTLAGHIEWERTMMLMLCDLLRNHKCNLQYLRLGGHCATPEQWAEFFYVLKANQSLKHLRLSANVLLDEGAMLLYKTMTRPKHFLQMLSLENCRLTEASCKDLAAVLVVSKKLTHLCLAKNPIGDTGVKFLCEGLSYPDCKLQTLVLQQCSITKLGCRYLSEALQEACSLTNLDLSINQIARGLWILCQALENPNCNLKHLRLKTYETNLEIKKLLEEVKEKNPKLTIDCNASGATAPPCCDFFC
uniprot
proteins
disease_involvement
DISEASE: Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. {ECO:0000269|PubMed:16462743, ECO:0000269|PubMed:19246479, ECO:0000269|PubMed:23963444}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Oocyte/zygote/embryo maturation arrest 25 (OZEMA25) [MIM:621471]: An autosomal dominant, female infertility disorder due to early embryo maturation arrest. {ECO:0000269|PubMed:37148315}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of cytoplasmic lattices, which consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos (PubMed:41118754). Cytoplasmic lattices 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:41118754). Inhibits CASP1/caspase-1-dependent IL1B secretion (PubMed:15817483). {ECO:0000269|PubMed:15817483, ECO:0000269|PubMed:41118754}.
uniprot
proteins
mass_dalton
111807
uniprot
proteins
protein_family
NLRP family
uniprot
proteins
pubmed
12019269
uniprot
proteins
pubmed
12563287
uniprot
proteins
pubmed
12766759
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15817483
uniprot
proteins
pubmed
16462743
uniprot
proteins
pubmed
19246479
uniprot
proteins
pubmed
20547486
uniprot
proteins
pubmed
23963444
uniprot
proteins
pubmed
37148315
uniprot
proteins
pubmed
41118754
uniprot
proteins
sequence_length
980
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cell cortex {ECO:0000269|PubMed:37148315}. Note=Localized at the oocyte cortex. {ECO:0000269|PubMed:37148315}.
uniprot
proteins