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UniProtKB - P59046 (NAL12_HUMAN)

Entry version 166 (18 Sep 2019)
Sequence version 2 (22 Aug 2003)
Previous versions | rss
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Protein

NACHT, LRR and PYD domains-containing protein 12

Gene

NLRP12

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

Plays an essential role as an potent mitigator of inflammation (PubMed:30559449). Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK activation pathways (PubMed:15489334, PubMed:17947705). Functions as a negative regulator of NOD2 by targeting it to degradation via the proteasome pathway (PubMed:30559449). In turn, promotes bacterial tolerance (PubMed:30559449). Inhibits also the DDX58-mediated immune signaling against RNA viruses by reducing the E3 ubiquitin ligase TRIM25-mediated 'Lys-63'-linked DDX58 activation but enhancing the E3 ubiquitin ligase RNF125-mediated 'Lys-48'-linked DDX58 degradation (PubMed:30902577). Acts also as a negative regulator of inflammatory response to mitigate obesity and obesity-associated diseases in adipose tissue (By similarity).By similarity4 Publications

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 bindingi217 – 224ATP8

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 12
Alternative name(s):
Monarch-1
PYRIN-containing APAF1-like protein 7
Regulated by nitric oxide
<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:NLRP12
Synonyms:NALP12, PYPAF7, RNO
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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:22938 NLRP12

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609648 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P59046

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

<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

Familial cold autoinflammatory syndrome 2 (FCAS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		91662

MalaCards human disease database

More...MalaCardsi		NLRP12
MIMi611762 phenotype

Open Targets

More...OpenTargetsi		ENSG00000142405

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

More...Orphaneti		247868 NLRP12-associated hereditary periodic fever syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162397866

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NLRP12

Domain mapping of disease mutations (DMDM)

More...DMDMi		34223733

<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_00000808991 – 1061NACHT, LRR and PYD domains-containing protein 12Add BLAST1061

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P59046

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P59046

PeptideAtlas

More...PeptideAtlasi		P59046

PRoteomics IDEntifications database

More...PRIDEi		P59046

ProteomicsDB human proteome resource

More...ProteomicsDBi		2044
57117 [P59046-1]
57118 [P59046-2]
57119 [P59046-3]
57120 [P59046-4]
57121 [P59046-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P59046

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

More...PhosphoSitePlusi		P59046

<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

Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes, and at lower levels in monocytes.1 Publication

<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 nitric oxide and DMSO in HL-60 cells, an acute myeloid leukemia cell line.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000142405 Expressed in 61 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P59046 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P59046 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA042981

<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

Interacts (via pyrin domain) with ASC.

Interacts (via pyrin domain) with FAF1 (via UBA domain) (PubMed:21978668).

Interacts with MAP3K14; this interaction promotes proteasomal degradation of MAP3K14 (PubMed:17237370).

Interacts with NOD2; this interaction promotes degradation of NOD2 through the ubiquitin-proteasome pathway (PubMed:30559449).

Interacts with HSPA1A and HSPA8 (PubMed:17947705).

Interacts with HSP90AA1 (PubMed:17947705, PubMed:30559449).

Interacts with TRIM25; this interaction inhibits DDX58-mediated signaling pathway (PubMed:30902577).

5 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		124861, 5 interactors

Protein interaction database and analysis system

More...IntActi		P59046, 26 interactors

Molecular INTeraction database

More...MINTi		P59046

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000375653

<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

11061
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		P59046

Database of comparative protein structure models

More...ModBasei		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P59046

<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 – 95PyrinPROSITE-ProRule annotationAdd BLAST95
Domaini211 – 528NACHTPROSITE-ProRule annotationAdd BLAST318
<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>Repeati828 – 848LRR 1Add BLAST21
Repeati857 – 878LRR 2Add BLAST22
Repeati885 – 906LRR 3Add BLAST22
Repeati914 – 935LRR 4Add BLAST22
Repeati942 – 962LRR 5Add BLAST21
Repeati971 – 992LRR 6Add BLAST22
Repeati999 – 1020LRR 7Add BLAST22
Repeati1028 – 1049LRR 8Add BLAST22

<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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IE5X Eukaryota
ENOG4111H3D LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160873

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000294064

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P59046

KEGG Orthology (KO)

More...KOi		K20865

Identification of Orthologs from Complete Genome Data

More...OMAi		LCRLSAY

Database of Orthologous Groups

More...OrthoDBi		114368at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P59046

TreeFam database of animal gene trees

More...TreeFami		TF340267

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
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
IPR029495 NACHT-assoc
IPR007111 NACHT_NTPase
IPR041267 NLRC_HD2
IPR041075 NOD2_WH
IPR027417 P-loop_NTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF14484 FISNA, 1 hit
PF13516 LRR_6, 5 hits
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
SM01288 FISNA, 1 hit
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
PS51450 LRR, 5 hits
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 (7+)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 7 <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 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P59046-1) [UniParc]FASTAAdd to basket
Also known as: I

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
MLRTAGRDGL CRLSTYLEEL EAVELKKFKL YLGTATELGE GKIPWGSMEK 
        60         70         80         90        100
AGPLEMAQLL ITHFGPEEAW RLALSTFERI NRKDLWERGQ REDLVRDTPP 
       110        120        130        140        150
GGPSSLGNQS TCLLEVSLVT PRKDPQETYR DYVRRKFRLM EDRNARLGEC 
       160        170        180        190        200
VNLSHRYTRL LLVKEHSNPM QVQQQLLDTG RGHARTVGHQ ASPIKIETLF 
       210        220        230        240        250
EPDEERPEPP RTVVMQGAAG IGKSMLAHKV MLDWADGKLF QGRFDYLFYI 
       260        270        280        290        300
NCREMNQSAT ECSMQDLIFS CWPEPSAPLQ ELIRVPERLL FIIDGFDELK 
       310        320        330        340        350
PSFHDPQGPW CLCWEEKRPT ELLLNSLIRK KLLPELSLLI TTRPTALEKL 
       360        370        380        390        400
HRLLEHPRHV EILGFSEAER KEYFYKYFHN AEQAGQVFNY VRDNEPLFTM 
       410        420        430        440        450
CFVPLVCWVV CTCLQQQLEG GGLLRQTSRT TTAVYMLYLL SLMQPKPGAP 
       460        470        480        490        500
RLQPPPNQRG LCSLAADGLW NQKILFEEQD LRKHGLDGED VSAFLNMNIF 
       510        520        530        540        550
QKDINCERYY SFIHLSFQEF FAAMYYILDE GEGGAGPDQD VTRLLTEYAF 
       560        570        580        590        600
SERSFLALTS RFLFGLLNEE TRSHLEKSLC WKVSPHIKMD LLQWIQSKAQ 
       610        620        630        640        650
SDGSTLQQGS LEFFSCLYEI QEEEFIQQAL SHFQVIVVSN IASKMEHMVS 
       660        670        680        690        700
SFCLKRCRSA QVLHLYGATY SADGEDRARC SAGAHTLLVQ LPERTVLLDA 
       710        720        730        740        750
YSEHLAAALC TNPNLIELSL YRNALGSRGV KLLCQGLRHP NCKLQNLRLK 
       760        770        780        790        800
RCRISSSACE DLSAALIANK NLTRMDLSGN GVGFPGMMLL CEGLRHPQCR 
       810        820        830        840        850
LQMIQLRKCQ LESGACQEMA SVLGTNPHLV ELDLTGNALE DLGLRLLCQG 
       860        870        880        890        900
LRHPVCRLRT LWLKICRLTA AACDELASTL SVNQSLRELD LSLNELGDLG 
       910        920        930        940        950
VLLLCEGLRH PTCKLQTLRL GICRLGSAAC EGLSVVLQAN HNLRELDLSF 
       960        970        980        990       1000
NDLGDWGLWL LAEGLQHPAC RLQKLWLDSC GLTAKACENL YFTLGINQTL 
      1010       1020       1030       1040       1050
TDLYLTNNAL GDTGVRLLCK RLSHPGCKLR VLWLFGMDLN KMTHSRLAAL 
      1060 
RVTKPYLDIG C
Length:1,061
Mass (Da):120,173
Last modified:August 22, 2003 - v2
<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:i8C10AFE4907C131B
GO
Isoform 2 (identifier: P59046-2) [UniParc]FASTAAdd to basket
Also known as: II

The sequence of this isoform differs from the canonical sequence as follows:
     976-1031: Missing.

Show »
Length:1,005
Mass (Da):114,006
Checksum:i79BD8925AA43644F
GO
Isoform 3 (identifier: P59046-3) [UniParc]FASTAAdd to basket
Also known as: III

The sequence of this isoform differs from the canonical sequence as follows:
     862-973: Missing.

Show »
Length:949
Mass (Da):107,913
Checksum:i99995A1C7261D636
GO
Isoform 4 (identifier: P59046-4) [UniParc]FASTAAdd to basket
Also known as: IV

The sequence of this isoform differs from the canonical sequence as follows:
     862-1031: Missing.

Show »
Length:891
Mass (Da):101,504
Checksum:i43093A9B22873A00
GO
Isoform 5 (identifier: P59046-5) [UniParc]FASTAAdd to basket
Also known as: rno-2

The sequence of this isoform differs from the canonical sequence as follows:
     1-717: Missing.
     718-748: LSLYRNALGSRGVKLLCQGLRHPNCKLQNLR → MSQAWWHTSVSPATQEAKAGGLLQPRRQRLW
     921-977: Missing.

Show »
Length:287
Mass (Da):31,765
Checksum:iBD3816C3255B2F9E
GO
Isoform 6 (identifier: P59046-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     920-976: Missing.

Note: No experimental confirmation available.
Show »
Length:1,004
Mass (Da):113,876
Checksum:i7D7350A83F286749
GO
Isoform 7 (identifier: P59046-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     691-691: L → LR

Note: No experimental confirmation.
Show »
Length:1,062
Mass (Da):120,329
Checksum:i0AB81C87F116497F
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFY3A0A0C4DFY3_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP12
892Annotation 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>
A0A0C4DH17A0A0C4DH17_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP12
1,006Annotation 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>

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 conflicti648M → T in BAG53059 (PubMed:14702039).Curated1

Natural variant

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_05362039G → V. Corresponds to variant dbSNP:rs34436714EnsemblClinVar.1
Natural variantiVAR_053621402F → L. Corresponds to variant dbSNP:rs34971363EnsemblClinVar.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_0169081 – 717Missing in isoform 5. 1 PublicationAdd BLAST717
Alternative sequenceiVSP_055193691L → LR in isoform 7. 1 Publication1
Alternative sequenceiVSP_016909718 – 748LSLYR…LQNLR → MSQAWWHTSVSPATQEAKAG GLLQPRRQRLW in isoform 5. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_009879862 – 1031Missing in isoform 4. 1 PublicationAdd BLAST170
Alternative sequenceiVSP_005523862 – 973Missing in isoform 3. 1 PublicationAdd BLAST112
Alternative sequenceiVSP_054622920 – 976Missing in isoform 6. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_016910921 – 977Missing in isoform 5. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_005524976 – 1031Missing in isoform 2. 1 PublicationAdd BLAST56

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
AY095146 mRNA Translation: AAM18227.1
AY154467 mRNA Translation: AAO18163.1
AY116204 mRNA Translation: AAM75142.1
AY116205 mRNA Translation: AAM75143.1
AY116206 mRNA Translation: AAM75144.1
AY116207 mRNA Translation: AAM75145.1
AF231021 mRNA Translation: AAK14942.1
AK095460 mRNA Translation: BAG53059.1
AC008753 Genomic DNA No translation available.
CH471135 Genomic DNA Translation: EAW72152.1
BC028069 mRNA Translation: AAH28069.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12864.1 [P59046-1]
CCDS62784.1 [P59046-6]
CCDS62785.1 [P59046-7]

NCBI Reference Sequences

More...RefSeqi		NP_001264055.1, NM_001277126.1 [P59046-7]
NP_001264058.1, NM_001277129.1 [P59046-6]
NP_653288.1, NM_144687.3 [P59046-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000324134; ENSP00000319377; ENSG00000142405 [P59046-1]
ENST00000391773; ENSP00000375653; ENSG00000142405 [P59046-7]
ENST00000391775; ENSP00000375655; ENSG00000142405 [P59046-6]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		91662

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:91662

UCSC genome browser

More...UCSCi		uc002qch.6 human [P59046-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY095146 mRNA Translation: AAM18227.1
AY154467 mRNA Translation: AAO18163.1
AY116204 mRNA Translation: AAM75142.1
AY116205 mRNA Translation: AAM75143.1
AY116206 mRNA Translation: AAM75144.1
AY116207 mRNA Translation: AAM75145.1
AF231021 mRNA Translation: AAK14942.1
AK095460 mRNA Translation: BAG53059.1
AC008753 Genomic DNA No translation available.
CH471135 Genomic DNA Translation: EAW72152.1
BC028069 mRNA Translation: AAH28069.1
CCDSiCCDS12864.1 [P59046-1]
CCDS62784.1 [P59046-6]
CCDS62785.1 [P59046-7]
RefSeqiNP_001264055.1, NM_001277126.1 [P59046-7]
NP_001264058.1, NM_001277129.1 [P59046-6]
NP_653288.1, NM_144687.3 [P59046-1]

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
2L6ANMR-A1-98[»]
4XHSX-ray1.70A/B10-106[»]
5H7NX-ray1.85A/B9-106[»]
SMRiP59046
ModBaseiSearch...

Protein-protein interaction databases

BioGridi124861, 5 interactors
IntActiP59046, 26 interactors
MINTiP59046
STRINGi9606.ENSP00000375653

PTM databases

iPTMnetiP59046
PhosphoSitePlusiP59046

Polymorphism and mutation databases

BioMutaiNLRP12
DMDMi34223733

Proteomic databases

jPOSTiP59046
PaxDbiP59046
PeptideAtlasiP59046
PRIDEiP59046
ProteomicsDBi2044
57117 [P59046-1]
57118 [P59046-2]
57119 [P59046-3]
57120 [P59046-4]
57121 [P59046-5]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		91662
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324134; ENSP00000319377; ENSG00000142405 [P59046-1]
ENST00000391773; ENSP00000375653; ENSG00000142405 [P59046-7]
ENST00000391775; ENSP00000375655; ENSG00000142405 [P59046-6]
GeneIDi91662
KEGGihsa:91662
UCSCiuc002qch.6 human [P59046-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		91662
DisGeNETi91662

GeneCards: human genes, protein and diseases

More...GeneCardsi		NLRP12
HGNCiHGNC:22938 NLRP12
HPAiHPA042981
MalaCardsiNLRP12
MIMi609648 gene
611762 phenotype
neXtProtiNX_P59046
OpenTargetsiENSG00000142405
Orphaneti247868 NLRP12-associated hereditary periodic fever syndrome
PharmGKBiPA162397866

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IE5X Eukaryota
ENOG4111H3D LUCA
GeneTreeiENSGT00940000160873
HOGENOMiHOG000294064
InParanoidiP59046
KOiK20865
OMAiLCRLSAY
OrthoDBi114368at2759
PhylomeDBiP59046
TreeFamiTF340267

Miscellaneous databases

EvolutionaryTraceiP59046

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NLRP12

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

More...GenomeRNAii		91662

Pharos

More...Pharosi		P59046

Protein Ontology

More...PROi		PR:P59046

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000142405 Expressed in 61 organ(s), highest expression level in blood
ExpressionAtlasiP59046 baseline and differential
GenevisibleiP59046 HS

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR004020 DAPIN
IPR011029 DEATH-like_dom_sf
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
IPR029495 NACHT-assoc
IPR007111 NACHT_NTPase
IPR041267 NLRC_HD2
IPR041075 NOD2_WH
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF14484 FISNA, 1 hit
PF13516 LRR_6, 5 hits
PF05729 NACHT, 1 hit
PF17776 NLRC4_HD2, 1 hit
PF17779 NOD2_WH, 1 hit
PF02758 PYRIN, 1 hit
SMARTiView protein in SMART
SM01288 FISNA, 1 hit
SM01289 PYRIN, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50824 DAPIN, 1 hit
PS51450 LRR, 5 hits
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 nameiNAL12_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: P59046
Secondary accession number(s): A8MTQ2
, B3KTE7, Q8NEU4, Q9BY26
<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: August 22, 2003
Last modified: September 18, 2019
This is version 166 of the entry and version 2 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 chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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