U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    NLRP3 NLR family pyrin domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 114548, updated on 7-Apr-2024

    Summary

    Official Symbol
    NLRP3provided by HGNC
    Official Full Name
    NLR family pyrin domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:16400
    See related
    Ensembl:ENSG00000162711 MIM:606416; AllianceGenome:HGNC:16400
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AII; AVP; FCU; MWS; FCAS; KEFH; CIAS1; FCAS1; NALP3; C1orf7; CLR1.1; DFNA34; PYPAF1; AGTAVPRL
    Summary
    This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
    Expression
    Biased expression in bone marrow (RPKM 20.0), appendix (RPKM 6.0) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NLRP3 in Genome Data Viewer
    Location:
    1q44
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (247416077..247448817)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (246852567..246885459)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (247579475..247612119)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:247499115-247499615 Neighboring gene uncharacterized LOC124904574 Neighboring gene Sharpr-MPRA regulatory region 1744 Neighboring gene ZNF496 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:247525936-247526480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2047 Neighboring gene uncharacterized LOC107985375 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:247556143-247556425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2868 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:247587345-247587508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2869 Neighboring gene uncharacterized LOC124904575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2871 Neighboring gene olfactory receptor family 2 subfamily B member 11 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:247634472-247634665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:247634852-247635484 Neighboring gene olfactory receptor family 2 subfamily W member 5 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Chronic infantile neurological, cutaneous and articular syndrome
    MedGen: C0409818 OMIM: 607115 GeneReviews: Not available
    Compare labs
    Familial amyloid nephropathy with urticaria AND deafness
    MedGen: C0268390 OMIM: 191900 GeneReviews: Not available
    Compare labs
    Familial cold autoinflammatory syndrome 1
    MedGen: C4551895 OMIM: 120100 GeneReviews: Not available
    Compare labs
    Hearing loss, autosomal dominant 34, with or without inflammation
    MedGen: C4521680 OMIM: 617772 GeneReviews: Not available
    Compare labs
    Keratitis fugax hereditaria
    MedGen: C1835697 OMIM: 148200 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study for reading and language abilities in two population cohorts.
    EBI GWAS Catalog
    Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    EBI GWAS Catalog
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env HIV-1 inhibitors T20, NVP, AZT, and raltegravir significantly attenuate HIV-1-induced IL-1B production and NLRP3 activation, suggesting that HIV-1 gp41, RT, and IN are required for pro-IL-1B expression and NLRP3 activation PubMed
    integrase gag-pol HIV-1 inhibitors T20, NVP, AZT, and raltegravir significantly attenuate HIV-1-induced IL-1B production and NLRP3 activation, suggesting that HIV-1 gp41, RT, and IN are required for pro-IL-1B expression and NLRP3 activation PubMed
    reverse transcriptase gag-pol HIV-1 inhibitors T20, NVP, AZT, and raltegravir significantly attenuate HIV-1-induced IL-1B production and NLRP3 activation, suggesting that HIV-1 gp41, RT, and IN are required for pro-IL-1B expression and NLRP3 activation PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ95925

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cysteine-type endopeptidase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular condensate scaffold activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidoglycan binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables phosphatidylinositol phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol-4-phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables signaling adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small molecule sensor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in NLRP3 inflammasome complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to lipopolysaccharide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in detection of biotic stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in detection of biotic stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of acute inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of acute inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interleukin-1 beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of non-canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of non-canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in osmosensory signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in pattern recognition receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T-helper 2 cell cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T-helper 2 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of inflammatory response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of interleukin-4 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of type 2 immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pyroptosis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NLRP3 inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of NLRP3 inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NLRP3 inflammasome complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in interphase microtubule organizing center ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule organizing center IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    NACHT, LRR and PYD domains-containing protein 3
    Names
    NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3
    NACHT, LRR and PYD containing protein 3
    PYRIN-containing APAF1-like protein 1
    caterpiller protein 1.1
    cold autoinflammatory syndrome 1 protein
    cold-induced autoinflammatory syndrome 1 protein
    cryopyrin
    cryopyrin, NACHT, LRR and PYD domains - containing protein 3
    deafness, autosomal dominant 34
    nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007509.2 RefSeqGene

      Range
      4984..37936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_197

    mRNA and Protein(s)

    1. NM_001079821.3NP_001073289.2  NACHT, LRR and PYD domains-containing protein 3 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 6. Both variants 3 and 6 encode the same isoform (e).
      Source sequence(s)
      AC104335, AF410477, AK314998, AL606804
      UniProtKB/TrEMBL
      A0A7I2R3P8, A0A7I2YME5
      Related
      ENSP00000375704.4, ENST00000391828.8
      Conserved Domains (7) summary
      cd00116
      Location:573949
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:891
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:741769
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:218387
      NACHT; NACHT domain
      pfam14484
      Location:142207
      FISNA; Fish-specific NACHT associated domain
      pfam17779
      Location:464518
      NOD2_WH; NOD2 winged helix domain
      cl39015
      Location:8831029
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    2. NM_001127461.3NP_001120933.2  NACHT, LRR and PYD domains-containing protein 3 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 6. The encoded isoform (c) is shorter than isoform e.
      Source sequence(s)
      AB208891, AC104335, AK314998
      Consensus CDS
      CCDS44346.2
      UniProtKB/TrEMBL
      A0A7I2PMC6, A0A7I2YME5
      Related
      ENSP00000355452.3, ENST00000366496.7
      Conserved Domains (6) summary
      cd00116
      Location:573977
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:891
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:741762
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:218387
      NACHT; NACHT domain
      pfam14484
      Location:142207
      FISNA; Fish-specific NACHT associated domain
      pfam17779
      Location:464518
      NOD2_WH; NOD2 winged helix domain
    3. NM_001127462.3NP_001120934.2  NACHT, LRR and PYD domains-containing protein 3 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the mid-coding region, compared to variant 6. The encoded isoform (d) is shorter than isoform e.
      Source sequence(s)
      AC104335, AF410477, AL606804, AY422168
      Consensus CDS
      CCDS44347.2
      UniProtKB/TrEMBL
      A0A7I2PRX0, A0A7I2YME5
      Related
      ENSP00000375703.3, ENST00000391827.3
      Conserved Domains (8) summary
      smart00368
      Location:909936
      LRR_RI; Leucine rich repeat, ribonuclease inhibitor type
      cd00116
      Location:573892
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:891
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:741769
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:697717
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:218387
      NACHT; NACHT domain
      pfam14484
      Location:142207
      FISNA; Fish-specific NACHT associated domain
      pfam17779
      Location:464518
      NOD2_WH; NOD2 winged helix domain
    4. NM_001243133.2NP_001230062.1  NACHT, LRR and PYD domains-containing protein 3 isoform e

      See identical proteins and their annotated locations for NP_001230062.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents the longest transcript and encodes isoform e. Variants 1 and 6 represent the same transcript but use different translation start sites since both sites are likely used. The encoded isoform (e) uses the most conserved translation start site. Both variants 3 and 6 encode the same isoform (e).
      Source sequence(s)
      AC104335, AF410477, AF427617
      Consensus CDS
      CCDS1632.2
      UniProtKB/TrEMBL
      A0A7I2R3P8, A0A7I2YME5
      Related
      ENSP00000337383.4, ENST00000336119.8
      Conserved Domains (7) summary
      cd00116
      Location:573949
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:891
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:741769
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:218387
      NACHT; NACHT domain
      pfam14484
      Location:142207
      FISNA; Fish-specific NACHT associated domain
      pfam17779
      Location:464518
      NOD2_WH; NOD2 winged helix domain
      cl39015
      Location:8831029
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    5. NM_004895.5NP_004886.3  NACHT, LRR and PYD domains-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_004886.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the same transcript, but uses an upstream translation start codon, compared to variant 6. Variants 1 and 6 represent the same transcript but use different translation start sites since both sites are likely used. The encoded isoform (a) uses a less conserved upstream translation start codon and has a slightly longer N-terminus, compared to isoform e.
      Source sequence(s)
      AC104335, AF410477, AF427617
      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
      UniProtKB/TrEMBL
      A0A7I2YME5
      Conserved Domains (5) summary
      cd00116
      Location:575951
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:1093
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:743771
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:220389
      NACHT; NACHT domain
      pfam14484
      Location:144209
      FISNA; Fish-specific NACHT associated domain
    6. NM_183395.3NP_899632.2  NACHT, LRR and PYD domains-containing protein 3 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons, which are located in the mid-coding and 3' coding regions, compared to variant 6. The encoded isoform (b) is shorter than isoform e.
      Source sequence(s)
      AC104335, AF410477, AF427617, AL606804, AY092033
      Consensus CDS
      CCDS1633.2
      UniProtKB/TrEMBL
      A0A7I2PJH0, A0A7I2YME5
      Related
      ENSP00000294752.4, ENST00000348069.7
      Conserved Domains (7) summary
      cd00116
      Location:573920
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:891
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:741769
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:697717
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:218387
      NACHT; NACHT domain
      pfam14484
      Location:142207
      FISNA; Fish-specific NACHT associated domain
      pfam17779
      Location:464518
      NOD2_WH; NOD2 winged helix domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      247416077..247448817
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443535.1XP_047299491.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
    2. XM_024452862.2XP_024308630.1  NACHT, LRR and PYD domains-containing protein 3 isoform X4

      UniProtKB/TrEMBL
      A0A7I2YME5
      Conserved Domains (6) summary
      cd00116
      Location:575922
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:1093
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:743771
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:699719
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:220389
      NACHT; NACHT domain
      pfam14484
      Location:144209
      FISNA; Fish-specific NACHT associated domain
    3. XM_024452874.2XP_024308642.1  NACHT, LRR and PYD domains-containing protein 3 isoform X6

      UniProtKB/TrEMBL
      A0A7I2YME5
      Conserved Domains (5) summary
      cd00116
      Location:575865
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:1093
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:743771
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:220389
      NACHT; NACHT domain
      pfam14484
      Location:144209
      FISNA; Fish-specific NACHT associated domain
    4. XM_047443539.1XP_047299495.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
    5. XM_047443533.1XP_047299489.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
    6. XM_047443557.1XP_047299513.1  NACHT, LRR and PYD domains-containing protein 3 isoform X3

      Conserved Domains (6) summary
      cd00116
      Location:575979
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:1093
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:743764
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:220389
      NACHT; NACHT domain
      pfam14484
      Location:144210
      FISNA; Fish-specific NACHT associated domain
      pfam17779
      Location:466520
      NOD2_WH; NOD2 winged helix domain
    7. XM_047443546.1XP_047299502.1  NACHT, LRR and PYD domains-containing protein 3 isoform X2

    8. XM_047443571.1XP_047299527.1  NACHT, LRR and PYD domains-containing protein 3 isoform X5

    9. XM_047443578.1XP_047299534.1  NACHT, LRR and PYD domains-containing protein 3 isoform X4

    10. XM_047443582.1XP_047299538.1  NACHT, LRR and PYD domains-containing protein 3 isoform X6

    11. XM_017000181.2XP_016855670.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
      UniProtKB/TrEMBL
      A0A7I2YME5
      Conserved Domains (5) summary
      cd00116
      Location:575951
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:1093
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:743771
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:220389
      NACHT; NACHT domain
      pfam14484
      Location:144209
      FISNA; Fish-specific NACHT associated domain
    12. XM_017000182.2XP_016855671.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
      UniProtKB/TrEMBL
      A0A7I2YME5
      Related
      ENSP00000513275.1, ENST00000697350.1
      Conserved Domains (5) summary
      cd00116
      Location:575951
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd08320
      Location:1093
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:743771
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:220389
      NACHT; NACHT domain
      pfam14484
      Location:144209
      FISNA; Fish-specific NACHT associated domain
    13. XM_047443562.1XP_047299518.1  NACHT, LRR and PYD domains-containing protein 3 isoform X2

    14. XM_047443534.1XP_047299490.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791757.1 Reference GRCh38.p14 PATCHES

      Range
      182616..202585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      246852567..246885459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334072.1XP_054190047.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
    2. XM_054334081.1XP_054190056.1  NACHT, LRR and PYD domains-containing protein 3 isoform X4

    3. XM_054334082.1XP_054190057.1  NACHT, LRR and PYD domains-containing protein 3 isoform X6

    4. XM_054334075.1XP_054190050.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
    5. XM_054334074.1XP_054190049.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
    6. XM_054334078.1XP_054190053.1  NACHT, LRR and PYD domains-containing protein 3 isoform X2

    7. XM_054334079.1XP_054190054.1  NACHT, LRR and PYD domains-containing protein 3 isoform X4

    8. XM_054334073.1XP_054190048.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
    9. XM_054334070.1XP_054190045.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
    10. XM_054334077.1XP_054190052.1  NACHT, LRR and PYD domains-containing protein 3 isoform X3

    11. XM_054334076.1XP_054190051.1  NACHT, LRR and PYD domains-containing protein 3 isoform X2

    12. XM_054334080.1XP_054190055.1  NACHT, LRR and PYD domains-containing protein 3 isoform X5

    13. XM_054334071.1XP_054190046.1  NACHT, LRR and PYD domains-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20