A1Z198

SS
Gene name
Nlrp1b
Protein name
NACHT, LRR and PYD domains-containing protein 1b allele 2
Names
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:637515
EC number
Protein Class

Descriptions

Nlrp1b is a receptor that detects the reduction of cellular ATP. Upon activation, this receptor recruits procaspase-1, which promotes cytokine processing and a proinflammatory form of cell death termed pyroptosis. The leucine-rich repeat (LRR) domain in Nlrp1b (Q2LKW6), interacting with NACHT domain within the same protein, is involved in autoinhibition and mutations within the LRR domain activates the protein.

Autoinhibitory domains (AIDs)

632-709 (Leucine-rich repeat) SS

Target domain

131-440 (NACHT domain)

Relief mechanism

Cleavage

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for A1Z198

Entry ID Method Resolution Chain Position Source
AF-A1Z198-F1 Predicted AlphaFoldDB

232 variants for A1Z198

Variant ID(s) Position Change Description Diseaes Association Provenance
rs26891573 28 E>K No Ensembl
rs244855223 29 T>K No Ensembl
rs225390495 52 I>M No Ensembl
rs257940346 53 F>I No Ensembl
rs240068979 55 E>V No Ensembl
rs580645359 58 M>I No Ensembl
rs220822702 59 N>K No Ensembl
rs261707751 61 G>R No Ensembl
rs227373769 69 W>* No Ensembl
rs247717468 69 W>R No Ensembl
rs258775202 72 K>R No Ensembl
rs233653170 77 F>I No Ensembl
rs250485509 79 T>N No Ensembl
rs584052487 81 K>T No Ensembl
rs33880496 84 R>L No Ensembl
rs33880496 84 R>P No Ensembl
rs587320737 86 F>L No Ensembl
rs583589323 90 C>Y No Ensembl
rs579968923 92 R>K No Ensembl
rs586837009 93 G>D No Ensembl
rs582978481 94 S>P No Ensembl
rs259100957 95 G>E No Ensembl
rs579640506 97 L>M No Ensembl
rs585100987 98 V>I No Ensembl
rs233702886 99 K>R No Ensembl
rs26891648 101 S>G No Ensembl
rs1133132676 102 W>R No Ensembl
rs215912037 103 Y>D No Ensembl
rs215912037 103 Y>H No Ensembl
rs247029535 103 Y>S No Ensembl
rs225456055 104 P>S No Ensembl
rs258007292 106 V>I No Ensembl
rs1134258825 112 H>Y No Ensembl
rs240137403 113 I>M No Ensembl
rs1133670199 115 N>D No Ensembl
rs1132593362 115 N>K No Ensembl
rs1133450296 124 I>L No Ensembl
rs1134226104 124 I>T No Ensembl
rs1134893062 126 T>A No Ensembl
rs1132153104 128 K>E No Ensembl
rs586189716 130 P>H No Ensembl
rs1132810583 131 Q>P No Ensembl
rs1133263401 133 V>I No Ensembl
rs1134272704 135 I>L No Ensembl
rs1131725017 141 I>S No Ensembl
rs1135077768 142 G>V No Ensembl
rs1132865032 149 Q>* No Ensembl
rs228730561 149 Q>L No Ensembl
rs1133421550 151 K>R No Ensembl
rs1133607921 152 R>K No Ensembl
rs262120056 155 M>K No Ensembl
rs250512460 158 E>Q No Ensembl
rs578774488 162 D>N No Ensembl
rs1133765113 163 H>R No Ensembl
rs584635587 165 Q>L No Ensembl
rs1132180011 178 C>Y No Ensembl
rs578549440 180 K>Q No Ensembl
rs26891652 188 T>A No Ensembl
rs219469761 192 D>E No Ensembl
rs1135343636 199 N>K No Ensembl
rs1134400646 204 H>Y No Ensembl
rs26891653 207 K>E No Ensembl
rs1135081919 209 L>F No Ensembl
rs581718981 219 A>T No Ensembl
rs587340785 227 P>L No Ensembl
rs26891656 232 Y>H No Ensembl
rs230011759 236 T>R No Ensembl
rs26891657 254 E>G No Ensembl
rs247082845 256 S>F No Ensembl
rs586762980 271 P>H No Ensembl
rs243212053 275 Q>H No Ensembl
rs231392791 275 Q>K No Ensembl
rs214131208 275 Q>L No Ensembl
rs228238423 276 S>P No Ensembl
rs264963089 280 E>K No Ensembl
rs235626239 286 D>E No Ensembl
rs254257130 286 D>G No Ensembl
rs257522422 287 F>I No Ensembl
rs240249270 289 Q>R No Ensembl
rs219516737 291 I>N No Ensembl
rs256458607 293 I>F No Ensembl
rs244128879 294 Y>H No Ensembl
rs221610348 299 K>N No Ensembl
rs586778709 301 I>R No Ensembl
rs579777550 301 I>V No Ensembl
rs583007018 302 F>L No Ensembl
rs580522478 302 F>Y No Ensembl
rs263746422 303 G>A No Ensembl
rs220946169 305 K>N No Ensembl
rs240268080 305 K>T No Ensembl
rs253488775 307 L>F No Ensembl
rs26891659 308 M>I No Ensembl
rs231488963 330 C>W No Ensembl
rs214186383 331 N>T No Ensembl
rs236871389 341 G>E No Ensembl
rs243281973 341 G>R No Ensembl
rs217499328 342 D>V No Ensembl
rs585672338 346 T>N No Ensembl
rs259700948 353 I>L No Ensembl
rs257592164 358 I>L No Ensembl
rs584270252 358 I>T No Ensembl
rs581898289 364 V>E No Ensembl
rs581898289 364 V>G No Ensembl
rs585302507 365 H>N No Ensembl
rs225557411 365 H>Q No Ensembl
rs256539259 367 M>R No Ensembl
rs241387215 371 L>V No Ensembl
rs264052570 372 R>K No Ensembl
rs26891662 406 I>T No Ensembl
rs49301835 435 S>A No Ensembl
rs49547121 436 M>I No Ensembl
rs49547121 436 M>I No Ensembl
rs26891663 446 R>Q No Ensembl
rs48589408 449 D>N No Ensembl
rs1132791308 452 M>I No Ensembl
rs1134347490 452 M>K No Ensembl
rs1132982539 453 D>N No Ensembl
rs217760982 468 L>M No Ensembl
rs1132269867 471 A>V No Ensembl
rs586460944 475 R>H No Ensembl
rs1132941945 475 R>S No Ensembl
rs48444987 482 S>G No Ensembl
rs1133946385 482 S>N No Ensembl
rs1133111035 483 K>E No Ensembl
rs1134616135 485 G>E No Ensembl
rs49608680 486 L>V No Ensembl
rs45733124 488 E>G No Ensembl
rs1133442561 491 K>R No Ensembl
rs1132261185 492 L>F No Ensembl
rs214652844 498 P>H No Ensembl
rs1134609379 499 G>R No Ensembl
rs1134363180 499 G>V No Ensembl
rs229007388 502 K>N No Ensembl
rs248419296 511 G>V No Ensembl
rs227372604 519 P>S No Ensembl
rs49757385 534 K>E No Ensembl
rs244817951 552 D>N No Ensembl
rs264066720 554 I>T No Ensembl
rs47682063 555 T>A No Ensembl
rs45726236 565 H>Q No Ensembl
rs26891668 569 R>Q No Ensembl
rs50279481 577 V>A No Ensembl
rs249368922 584 C>Y No Ensembl
rs229525021 585 S>C No Ensembl
rs260353085 587 M>V No Ensembl
rs583366124 589 S>T No Ensembl
rs245010851 596 G>E No Ensembl
rs259981930 596 G>R No Ensembl
rs26891669 601 A>S No Ensembl
rs264632897 603 T>I No Ensembl
rs49525614 604 A>S No Ensembl
rs252906870 620 W>C No Ensembl
rs228906083 621 K>E No Ensembl
rs248829384 630 N>T No Ensembl
rs227320559 631 S>R No Ensembl
rs243006676 642 P>S No Ensembl
rs222964996 644 S>R No Ensembl
rs261348825 647 A>V No Ensembl
rs579794977 650 Y>C No Ensembl
rs583492957 650 Y>N No Ensembl
rs244738073 653 D>N No Ensembl
rs582793220 654 A>T No Ensembl
rs580514663 655 M>L No Ensembl
rs221777372 656 I>R No Ensembl
rs585488540 669 E>K No Ensembl
rs29429080 674 P>S No Ensembl
rs1133954492 675 T>R No Ensembl
rs1133334866 683 V>M No Ensembl
rs1134911610 684 L>I No Ensembl
rs1134112662 686 A>T No Ensembl
rs245104128 687 C>R No Ensembl
rs232814901 687 C>Y No Ensembl
rs1131877903 689 S>N No Ensembl
rs255892627 691 R>S No Ensembl
rs262233553 691 R>T No Ensembl
rs582876752 693 L>I No Ensembl
rs227233829 694 D>Y No Ensembl
rs238430040 701 C>G No Ensembl
rs579139941 703 D>N No Ensembl
rs261482420 715 R>P No Ensembl
rs1132012738 716 A>V No Ensembl
rs240743559 720 R>S No Ensembl
rs225424431 723 R>W No Ensembl
rs1134607989 726 L>Q No Ensembl
rs245699879 727 Y>S No Ensembl
rs225770825 732 Q>R No Ensembl
rs215961718 743 N>K No Ensembl
rs246583048 745 L>P No Ensembl
rs234000755 748 H>Y No Ensembl
rs585413826 750 S>C No Ensembl
rs579615891 750 S>P No Ensembl
rs265972365 752 I>T No Ensembl
rs214585062 756 Q>H No Ensembl
rs244043098 768 D>A No Ensembl
rs227817073 772 S>T No Ensembl
rs30771788 773 F>L No Ensembl
rs260535120 779 Q>E No Ensembl
rs233288536 782 A>D No Ensembl
rs244660185 783 N>K No Ensembl
rs215814649 798 I>T No Ensembl
rs254471997 805 V>L No Ensembl
rs26891688 807 Y>D No Ensembl
rs254490207 809 E>V No Ensembl
rs236218264 829 R>G No Ensembl
rs245860197 891 K>E No Ensembl
rs252960998 907 M>I No Ensembl
rs248013329 932 V>D No Ensembl
rs213659794 935 R>K No Ensembl
rs258196111 937 I>F No Ensembl
rs231650373 940 A>D No Ensembl
rs244376677 956 V>L No Ensembl
rs263784481 958 Q>H No Ensembl
rs230521480 958 Q>L No Ensembl
rs240510933 970 N>S No Ensembl
rs1132131696 1056 K>R No Ensembl
rs1133136780 1070 P>S No Ensembl
rs1134331175 1075 I>T No Ensembl
rs1135282460 1077 Q>* No Ensembl
rs1134029673 1077 Q>L No Ensembl
rs1135224241 1079 L>P No Ensembl
rs214252678 1080 K>N No Ensembl
rs48256433 1094 E>K No Ensembl
rs238950081 1099 R>* No Ensembl
rs580329840 1104 D>N No Ensembl
rs1132335871 1127 N>T No Ensembl
rs1134744531 1138 N>S No Ensembl
rs46128293 1141 R>Q No Ensembl
rs1131856708 1145 R>Q No Ensembl
rs26891718 1147 C>S No Ensembl
rs1133142464 1150 L>Q No Ensembl
rs586181439 1167 L>F No Ensembl
rs1131850448 1172 G>R No Ensembl

No associated diseases with A1Z198

7 regional properties for A1Z198

Type Name Position InterPro Accession
domain CARD domain 1087 - 1170 IPR001315
repeat Leucine-rich repeat 687 - 709 IPR001611
domain NACHT nucleoside triphosphatase 131 - 440 IPR007111
domain FIIND domain 794 - 1077 IPR025307
domain CARD8/ASC/NALP1, CARD domain 1087 - 1167 IPR033516
domain NOD2, winged helix domain 370 - 424 IPR041075
domain NACHT, LRR and PYD domains-containing protein, helical domain HD2 426 - 537 IPR041267

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytosol
  • ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
inflammasome complex A cytosolic protein complex that is capable of activating caspase-1.
NLRP1 inflammasome complex An inflammasome complex that consists of two components, NLRP1 (NALP1) and caspase-1 or caspase-5. The exact mechanisms of NLRP1 activation remain obscure, but potassium ion efflux appears to be essential.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

8 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cysteine-type endopeptidase activator activity Binds to and increases the activity of a cysteine-type endopeptidase.
double-stranded DNA binding Binding to double-stranded DNA.
double-stranded RNA binding Binding to double-stranded RNA.
enzyme binding Binding to an enzyme, a protein with catalytic activity.
peptidase activity Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid.
protein domain specific binding Binding to a specific domain of a protein.
protein self-association Binding to a domain within the same polypeptide.

12 GO annotations of biological process

Name Definition
activation of cysteine-type endopeptidase activity involved in apoptotic process Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
antiviral innate immune response A defense response against viruses mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens.
defense response to virus Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
neuron apoptotic process Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.
NLRP1 inflammasome complex assembly The aggregation, arrangement and bonding together of a set of components to form a NLRP1 inflammasome complex.
positive regulation of interleukin-1 beta production Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production.
protein catabolic process The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
protein homooligomerization The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
pyroptosis A caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18.
regulation of apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process.
self proteolysis The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their own peptide bonds.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9C000 NLRP1 NACHT, LRR and PYD domains-containing protein 1 Homo sapiens (Human) EV
Q96P20 NLRP3 NACHT, LRR and PYD domains-containing protein 3 Homo sapiens (Human) EV
P59046 NLRP12 NACHT, LRR and PYD domains-containing protein 12 Homo sapiens (Human) SS
Q2LKU9 Nlrp1a NACHT, LRR and PYD domains-containing protein 1a Mus musculus (Mouse) SS
Q9EPB4 Pycard Apoptosis-associated speck-like protein containing a CARD Mus musculus (Mouse) PR
10 20 30 40 50 60
MEESQYKQEH NKKVAQDEGQ EDKDTIFETI EAIEAKLMEL KTNPESTFNY GIFPEVYMNQ
70 80 90 100 110 120
GEEILYPAWS LKEENLFQTF KSLRLFQKLC PRGSGNLVKK SWYPCVPEEG GHIINIQDLF
130 140 150 160 170 180
GPNIGTQKEP QLVIIEGAAG IGKSTLARQV KRAWMEGELY RDHFQHVFFF SCRELAQCKK
190 200 210 220 230 240
LSLAELITQG QDVPTAPINQ ILSHPEKLLF ILDGIDEPAW VLADQNPELC LYWSQTQPVH
250 260 270 280 290 300
TLLGSLLGKS ILPEASFLLT TRTTALQKFI PSLPQSCQVE VLGFSDFEQE IYIYKYFAKQ
310 320 330 340 350 360
IFGIKALMMV ESNPVLLTLC EVPWVCWLVC NCLKKQMEQG GDVSLTSQTT TAICLKYISL
370 380 390 400 410 420
TIPVHHMRTQ LRALCSLAAE GIWKRRTLFS ESDLCKQGLD EDAVAIFLKT GVLQKQASSL
430 440 450 460 470 480
SYSFAHLCLQ EFFASMSCIL EDSEERHGDM EMDRIVETLV ERYGRQNLFE APTVRFLFGL
490 500 510 520 530 540
LSKEGLKEME KLFSCSLPGK TKLKLLWHIL GKSQPHQPPC LGLLHCLYEN QDMKLLTHVM
550 560 570 580 590 600
HDLQGTIVPD TDDITHTVLQ TNVKHLVVRT DMELMVVTFC IQFCSHMRSL QLNMEGQQGY
610 620 630 640 650 660
ALTAPRMVLY RWTPITNASW KILFYNLKFN SNLEGLDLSG NPLSYSAVQY LCDAMIYPGC
670 680 690 700 710 720
QLKTLWLVEC GLTPTYCSLL ASVLSACSSL RELDLQLNDL CDDGVRMLCE GLRNRACNLR
730 740 750 760 770 780
ILRLDLYSLS AQVITELRTL EENNLKLHIS SIWMPQMMVP TENMDEEDIL TSFKQQRQQS
790 800 810 820 830 840
GANPMEILGT EEDFWGPIGP VATEVVYRER NLYRVQLPMA GSYHCPSTRL HFVVTRAVTI
850 860 870 880 890 900
EIEFCAWSQF LDKTPLQQSH MVVGPLFDIK AEQGAVTAVY LPHFVSLKDT KASTFDFKVA
910 920 930 940 950 960
HFQEHGMVLE TPDRVKPGYT VLKNPSFSPM GVVLRIIPAA RHFIPITSIT LIYYRVNQEE
970 980 990 1000 1010 1020
VTLHLYLVPN DCTIQKAIDD EEMKFQFVRI NKPPPVDNLF IGSRYIVSGS ENLEITPKEL
1030 1040 1050 1060 1070 1080
ELCYRSSKEF QLFSEIYVGN MGSEIKLQIK NKKHMKLIWE ALLKPGDLRP ALPRIAQALK
1090 1100 1110 1120 1130 1140
DAPSLLHFMD QHREQLVARV TSVDPLLDKL HGLVLNEESY EAVRAENTNQ DKMRKLFNLS
1150 1160 1170
RSWSRACKDL FYQALKETHP HLVMDLLEKS GGVSLGS