| バックグラウンド: | This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. |
| UniProt Protein Function: | NLRP7: Inhibits CASP1/caspase-1-dependent IL1B secretion. Defects in NLRP7 are the cause of hydatidiform mole recurrent type 1 (HYDM1). A disorder characterized by excessive trophoblast development and the presence of 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. Belongs to the NLRP family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Apoptosis Chromosomal Location of Human Ortholog: 19q13.42 Disease: Hydatidiform Mole, Recurrent, 1 |
| NCBI Summary: | This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q8WX94 |
| NCBI GenInfo Identifier: | 24212128 |
| NCBI Gene ID: | 199713 |
| NCBI Accession: | Q8WX94.1 |
| UniProt Secondary Accession: | Q8WX94,Q32MH8, Q7RTR1, E9PE16, |
| UniProt Related Accession: | Q8WX94 |
| Molecular Weight: | 112kDa |
| NCBI Full Name: | NACHT, LRR and PYD domains-containing protein 7 |
| NCBI Synonym Full Names: | NLR family pyrin domain containing 7 |
| NCBI Official Symbol: | NLRP7 |
| NCBI Official Synonym Symbols: | HYDM; PAN7; NALP7; NOD12; PYPAF3; CLR19.4 |
| NCBI Protein Information: | NACHT, LRR and PYD domains-containing protein 7 |
| UniProt Protein Name: | NACHT, LRR and PYD domains-containing protein 7 |
| UniProt Synonym Protein Names: | Nucleotide-binding oligomerization domain protein 12; PYRIN-containing APAF1-like protein 3 |
| Protein Family: | NACHT, LRR and PYD domains-containing protein |
| UniProt Gene Name: | NLRP7 |
