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Entry version 159 (16 Oct 2019)
Sequence version 1 (01 Mar 2002)
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Protein

NACHT, LRR and PYD domains-containing protein 7

Gene

NLRP7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Inhibits CASP1/caspase-1-dependent IL1B secretion.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi178 – 185ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandATP-binding, Nucleotide-binding

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
NACHT, LRR and PYD domains-containing protein 7
Alternative name(s):
Nucleotide-binding oligomerization domain protein 12
PYRIN-containing APAF1-like protein 3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NLRP7
Synonyms:NALP7, NOD12, PYPAF3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:22947 NLRP7

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609661 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WX94

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hydatidiform mole, recurrent, 1 (HYDM1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_059035398L → R in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895548EnsemblClinVar.1
Natural variantiVAR_059036651P → S in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895549EnsemblClinVar.1
Natural variantiVAR_026711693R → P in HYDM1. 2 PublicationsCorresponds to variant dbSNP:rs104895502EnsemblClinVar.1
Natural variantiVAR_059037693R → Q in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895502EnsemblClinVar.1
Natural variantiVAR_026712693R → W in HYDM1. 2 PublicationsCorresponds to variant dbSNP:rs104895506EnsemblClinVar.1
Natural variantiVAR_059038716P → A in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895550EnsemblClinVar.1
Natural variantiVAR_059039721R → W in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895525EnsemblClinVar.1
Natural variantiVAR_059040761C → Y in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895552EnsemblClinVar.1
Natural variantiVAR_026713913N → S in HYDM1. 2 PublicationsCorresponds to variant dbSNP:rs104895503EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
199713

MalaCards human disease database

More...
MalaCardsi
NLRP7
MIMi231090 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000167634

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
254688 Complete hydatidiform mole
254693 Partial hydatidiform mole

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162398003

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8WX94

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NLRP7

Domain mapping of disease mutations (DMDM)

More...
DMDMi
24212128

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000808951 – 980NACHT, LRR and PYD domains-containing protein 7Add BLAST980

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8WX94

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8WX94

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8WX94

PeptideAtlas

More...
PeptideAtlasi
Q8WX94

PRoteomics IDEntifications database

More...
PRIDEi
Q8WX94

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
74988 [Q8WX94-1]
74989 [Q8WX94-2]
74990 [Q8WX94-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8WX94

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8WX94

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in numerous tissues including uterus and ovary, with low levels in heart and brain. Not detected in skeletal muscle.2 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By bacterial lipopolysaccharides (LPS) and IL1B/interleukin-1 beta in peripheral blood mononuclear cells.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000167634 Expressed in 42 organ(s), highest expression level in female gonad

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8WX94 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8WX94 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051382

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Directly interacts with CASP1 and IL1B.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
128265, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000467123

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1980
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8WX94

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q8WX94

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 93PyrinPROSITE-ProRule annotationAdd BLAST93
Domaini172 – 491NACHTPROSITE-ProRule annotationAdd BLAST320
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati614 – 638LRR 1Add BLAST25
Repeati674 – 697LRR 2Add BLAST24
Repeati760 – 784LRR 3Add BLAST25
Repeati788 – 810LRR 4Add BLAST23
Repeati817 – 840LRR 5Add BLAST24
Repeati845 – 868LRR 6Add BLAST24
Repeati874 – 897LRR 7Add BLAST24
Repeati902 – 928LRR 8Add BLAST27
Repeati933 – 957LRR 9Add BLAST25

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the NLRP family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000164627

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000294064

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8WX94

KEGG Orthology (KO)

More...
KOi
K20864

Identification of Orthologs from Complete Genome Data

More...
OMAi
WHCNITR

Database of Orthologous Groups

More...
OrthoDBi
155336at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8WX94

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004020 DAPIN
IPR011029 DEATH-like_dom_sf
IPR032675 LRR_dom_sf
IPR007111 NACHT_NTPase
IPR041267 NLRC_HD2
IPR041075 NOD2_WH
IPR027417 P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05729 NACHT, 1 hit
PF17776 NLRC4_HD2, 1 hit
PF17779 NOD2_WH, 1 hit
PF02758 PYRIN, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01289 PYRIN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47986 SSF47986, 1 hit
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50824 DAPIN, 1 hit
PS50837 NACHT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WX94-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD
60 70 80 90 100
GKKLAEILVN TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI
110 120 130 140 150
DNPELGDAEE DSELAKPGEK EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV
160 170 180 190 200
TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA GVGKTTLAKK CMLDWTDCNL
210 220 230 240 250
SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS ILAQAQRILF
260 270 280 290 300
VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
310 320 330 340 350
TRPRALRDLQ LLAQQPIYVR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM
360 370 380 390 400
RSNAALFQLG SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS
410 420 430 440 450
RFPQGAQLRG ALRTLSLLAA QGLWAQMSVF HREDLERLGV QESDLRLFLD
460 470 480 490 500
GDILRQDRVS KGCYSFIHLS FQQFLTALFY ALEKEEGEDR DGHAWDIGDV
510 520 530 540 550
QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC RMSPDIKQEL
560 570 580 590 600
LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
610 620 630 640 650
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI
660 670 680 690 700
PNWARQDLRS LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT
710 720 730 740 750
RSTCHLQKVE IKNVTPDTAY RDFCLAFIGK KTLTHLTLAG HIEWERTMML
760 770 780 790 800
MLCDLLRNHK CNLQYLRLGG HCATPEQWAE FFYVLKANQS LKHLRLSANV
810 820 830 840 850
LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA VLVVSKKLTH
860 870 880 890 900
LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
910 920 930 940 950
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLKT YETNLEIKKL
960 970 980
LEEVKEKNPK LTIDCNASGA TAPPCCDFFC
Length:980
Mass (Da):111,807
Last modified:March 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i822AF2FD4338003D
GO
Isoform 2 (identifier: Q8WX94-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     644-671: Missing.
     938-938: L → LWSCSLMPFYCQHLGSALLSNQKLETLDLGQNHLWKSGIIKLFGVLRQRTGSLKILRL

Note: No experimental confirmation available.
Show »
Length:1,009
Mass (Da):114,845
Checksum:iEB76450B0C05AE24
GO
Isoform 3 (identifier: Q8WX94-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     938-938: L → LWSCSLMPFYCQHLGSALLSNQKLETLDLGQNHLWKSGIIKLFGVLRQRTGSLKILRL

Note: No experimental confirmation available.
Show »
Length:1,037
Mass (Da):118,303
Checksum:iBB5642CADF5DA666
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ERG0K7ERG0_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP7
963Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JNK3A0A0G2JNK3_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP7
1,037Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JM25A0A0G2JM25_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP7
935Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JMB6A0A0G2JMB6_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP7
980Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JNK1A0A0G2JNK1_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP7
952Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JPH3A0A0G2JPH3_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP7
1,009Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EP54K7EP54_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP7
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ER92K7ER92_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP7
96Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EPY3K7EPY3_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP7
53Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JM63A0A0G2JM63_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP7
157Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti310 – 311QL → RI in AAI09126 (PubMed:15489334).Curated2
Sequence conflicti481A → T in AAI09126 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026710319V → I. Corresponds to variant dbSNP:rs775882EnsemblClinVar.1
Natural variantiVAR_059035398L → R in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895548EnsemblClinVar.1
Natural variantiVAR_060103487G → E. Corresponds to variant dbSNP:rs775881EnsemblClinVar.1
Natural variantiVAR_059036651P → S in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895549EnsemblClinVar.1
Natural variantiVAR_026711693R → P in HYDM1. 2 PublicationsCorresponds to variant dbSNP:rs104895502EnsemblClinVar.1
Natural variantiVAR_059037693R → Q in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895502EnsemblClinVar.1
Natural variantiVAR_026712693R → W in HYDM1. 2 PublicationsCorresponds to variant dbSNP:rs104895506EnsemblClinVar.1
Natural variantiVAR_059038716P → A in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895550EnsemblClinVar.1
Natural variantiVAR_059039721R → W in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895525EnsemblClinVar.1
Natural variantiVAR_059040761C → Y in HYDM1. 1 PublicationCorresponds to variant dbSNP:rs104895552EnsemblClinVar.1
Natural variantiVAR_026713913N → S in HYDM1. 2 PublicationsCorresponds to variant dbSNP:rs104895503EnsemblClinVar.1
Natural variantiVAR_026714971T → A. Corresponds to variant dbSNP:rs7256020Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_016906644 – 671Missing in isoform 2. CuratedAdd BLAST28
Alternative sequenceiVSP_016907938L → LWSCSLMPFYCQHLGSALLS NQKLETLDLGQNHLWKSGII KLFGVLRQRTGSLKILRL in isoform 2 and isoform 3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF464765 mRNA Translation: AAL69963.1
AY154462 mRNA Translation: AAO18158.1
AC011476 Genomic DNA No translation available.
BC109125 mRNA Translation: AAI09126.1
BK001113 mRNA Translation: DAA01246.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12912.1 [Q8WX94-2]
CCDS33109.1 [Q8WX94-1]
CCDS46183.1 [Q8WX94-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001120727.1, NM_001127255.1 [Q8WX94-3]
NP_631915.2, NM_139176.3 [Q8WX94-2]
NP_996611.2, NM_206828.3 [Q8WX94-1]
XP_006723138.1, XM_006723075.3 [Q8WX94-3]
XP_006723139.1, XM_006723076.3 [Q8WX94-3]
XP_011524901.1, XM_011526599.2 [Q8WX94-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000328092; ENSP00000329568; ENSG00000167634 [Q8WX94-2]
ENST00000340844; ENSP00000339491; ENSG00000167634 [Q8WX94-1]
ENST00000588756; ENSP00000467123; ENSG00000167634 [Q8WX94-3]
ENST00000590030; ENSP00000465520; ENSG00000167634 [Q8WX94-1]
ENST00000592784; ENSP00000468706; ENSG00000167634 [Q8WX94-3]
ENST00000610424; ENSP00000482887; ENSG00000274571 [Q8WX94-3]
ENST00000610790; ENSP00000478726; ENSG00000274571 [Q8WX94-1]
ENST00000610853; ENSP00000478890; ENSG00000274571 [Q8WX94-2]
ENST00000610981; ENSP00000479459; ENSG00000277776 [Q8WX94-3]
ENST00000611597; ENSP00000481117; ENSG00000274571 [Q8WX94-1]
ENST00000613233; ENSP00000483203; ENSG00000277776 [Q8WX94-1]
ENST00000614879; ENSP00000484444; ENSG00000277071 [Q8WX94-1]
ENST00000615426; ENSP00000484426; ENSG00000277071 [Q8WX94-3]
ENST00000615699; ENSP00000480449; ENSG00000277786 [Q8WX94-1]
ENST00000618261; ENSP00000483353; ENSG00000277179 [Q8WX94-1]
ENST00000618343; ENSP00000480226; ENSG00000274174 [Q8WX94-3]
ENST00000618672; ENSP00000481452; ENSG00000277179 [Q8WX94-3]
ENST00000618740; ENSP00000484808; ENSG00000277786 [Q8WX94-3]
ENST00000618995; ENSP00000481809; ENSG00000276804 [Q8WX94-1]
ENST00000620183; ENSP00000480034; ENSG00000274174 [Q8WX94-1]
ENST00000620820; ENSP00000482551; ENSG00000276804 [Q8WX94-3]
ENST00000621238; ENSP00000481395; ENSG00000274571 [Q8WX94-3]
ENST00000621584; ENSP00000479541; ENSG00000275483 [Q8WX94-1]
ENST00000622199; ENSP00000482194; ENSG00000275483 [Q8WX94-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
199713

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:199713

UCSC genome browser

More...
UCSCi
uc002qih.4 human [Q8WX94-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

INFEVERS

Repertory of FMF and hereditary autoinflammatory disorders mutations

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF464765 mRNA Translation: AAL69963.1
AY154462 mRNA Translation: AAO18158.1
AC011476 Genomic DNA No translation available.
BC109125 mRNA Translation: AAI09126.1
BK001113 mRNA Translation: DAA01246.1
CCDSiCCDS12912.1 [Q8WX94-2]
CCDS33109.1 [Q8WX94-1]
CCDS46183.1 [Q8WX94-3]
RefSeqiNP_001120727.1, NM_001127255.1 [Q8WX94-3]
NP_631915.2, NM_139176.3 [Q8WX94-2]
NP_996611.2, NM_206828.3 [Q8WX94-1]
XP_006723138.1, XM_006723075.3 [Q8WX94-3]
XP_006723139.1, XM_006723076.3 [Q8WX94-3]
XP_011524901.1, XM_011526599.2 [Q8WX94-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KM6NMR-A1-96[»]
SMRiQ8WX94
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi128265, 3 interactors
STRINGi9606.ENSP00000467123

PTM databases

iPTMnetiQ8WX94
PhosphoSitePlusiQ8WX94

Polymorphism and mutation databases

BioMutaiNLRP7
DMDMi24212128

Proteomic databases

jPOSTiQ8WX94
MassIVEiQ8WX94
MaxQBiQ8WX94
PeptideAtlasiQ8WX94
PRIDEiQ8WX94
ProteomicsDBi74988 [Q8WX94-1]
74989 [Q8WX94-2]
74990 [Q8WX94-3]

Genome annotation databases

EnsembliENST00000328092; ENSP00000329568; ENSG00000167634 [Q8WX94-2]
ENST00000340844; ENSP00000339491; ENSG00000167634 [Q8WX94-1]
ENST00000588756; ENSP00000467123; ENSG00000167634 [Q8WX94-3]
ENST00000590030; ENSP00000465520; ENSG00000167634 [Q8WX94-1]
ENST00000592784; ENSP00000468706; ENSG00000167634 [Q8WX94-3]
ENST00000610424; ENSP00000482887; ENSG00000274571 [Q8WX94-3]
ENST00000610790; ENSP00000478726; ENSG00000274571 [Q8WX94-1]
ENST00000610853; ENSP00000478890; ENSG00000274571 [Q8WX94-2]
ENST00000610981; ENSP00000479459; ENSG00000277776 [Q8WX94-3]
ENST00000611597; ENSP00000481117; ENSG00000274571 [Q8WX94-1]
ENST00000613233; ENSP00000483203; ENSG00000277776 [Q8WX94-1]
ENST00000614879; ENSP00000484444; ENSG00000277071 [Q8WX94-1]
ENST00000615426; ENSP00000484426; ENSG00000277071 [Q8WX94-3]
ENST00000615699; ENSP00000480449; ENSG00000277786 [Q8WX94-1]
ENST00000618261; ENSP00000483353; ENSG00000277179 [Q8WX94-1]
ENST00000618343; ENSP00000480226; ENSG00000274174 [Q8WX94-3]
ENST00000618672; ENSP00000481452; ENSG00000277179 [Q8WX94-3]
ENST00000618740; ENSP00000484808; ENSG00000277786 [Q8WX94-3]
ENST00000618995; ENSP00000481809; ENSG00000276804 [Q8WX94-1]
ENST00000620183; ENSP00000480034; ENSG00000274174 [Q8WX94-1]
ENST00000620820; ENSP00000482551; ENSG00000276804 [Q8WX94-3]
ENST00000621238; ENSP00000481395; ENSG00000274571 [Q8WX94-3]
ENST00000621584; ENSP00000479541; ENSG00000275483 [Q8WX94-1]
ENST00000622199; ENSP00000482194; ENSG00000275483 [Q8WX94-3]
GeneIDi199713
KEGGihsa:199713
UCSCiuc002qih.4 human [Q8WX94-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
199713
DisGeNETi199713

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NLRP7
HGNCiHGNC:22947 NLRP7
HPAiHPA051382
MalaCardsiNLRP7
MIMi231090 phenotype
609661 gene
neXtProtiNX_Q8WX94
OpenTargetsiENSG00000167634
Orphaneti254688 Complete hydatidiform mole
254693 Partial hydatidiform mole
PharmGKBiPA162398003

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000164627
HOGENOMiHOG000294064
InParanoidiQ8WX94
KOiK20864
OMAiWHCNITR
OrthoDBi155336at2759
PhylomeDBiQ8WX94

Miscellaneous databases

EvolutionaryTraceiQ8WX94

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NLRP7

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
199713
PharosiQ8WX94

Protein Ontology

More...
PROi
PR:Q8WX94

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000167634 Expressed in 42 organ(s), highest expression level in female gonad
ExpressionAtlasiQ8WX94 baseline and differential
GenevisibleiQ8WX94 HS

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR004020 DAPIN
IPR011029 DEATH-like_dom_sf
IPR032675 LRR_dom_sf
IPR007111 NACHT_NTPase
IPR041267 NLRC_HD2
IPR041075 NOD2_WH
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF05729 NACHT, 1 hit
PF17776 NLRC4_HD2, 1 hit
PF17779 NOD2_WH, 1 hit
PF02758 PYRIN, 1 hit
SMARTiView protein in SMART
SM01289 PYRIN, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50824 DAPIN, 1 hit
PS50837 NACHT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNALP7_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8WX94
Secondary accession number(s): E9PE16, Q32MH8, Q7RTR1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: March 1, 2002
Last modified: October 16, 2019
This is version 159 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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