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    NLRP12 NLR family pyrin domain containing 12 [ Homo sapiens (human) ]

    Gene ID: 91662, updated on 12-Feb-2024

    Summary

    Official Symbol
    NLRP12provided by HGNC
    Official Full Name
    NLR family pyrin domain containing 12provided by HGNC
    Primary source
    HGNC:HGNC:22938
    See related
    Ensembl:ENSG00000142405 MIM:609648; AllianceGenome:HGNC:22938
    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
    RNO; PAN6; RNO2; FCAS2; NALP12; PYPAF7; CLR19.3
    Summary
    This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
    Expression
    Biased expression in bone marrow (RPKM 2.2), appendix (RPKM 1.2) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NLRP12 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (53793584..53824403, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (56873043..56904207, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54296838..54327657, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904767 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54295400-54295900 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54295901-54296401 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54300296-54300796 Neighboring gene microRNA 372 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54301378-54301878 Neighboring gene microRNA 373 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54332809-54333578 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54334349-54335116 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54335887-54336656 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54337427-54338194 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:54339735-54340504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54342811-54343580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54343581-54344348 Neighboring gene MYADM antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54361270-54361770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54369942-54370917 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54372027-54372940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54372941-54373854 Neighboring gene myeloid associated differentiation marker Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54385903-54386454 Neighboring gene protein kinase C gamma Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54395841-54396380 Neighboring gene Sharpr-MPRA regulatory region 4174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54410617-54411158

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cysteine-type endopeptidase activator activity involved in apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cytokine stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dendritic cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of ERK1 and ERK2 cascade 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 Toll signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interleukin-1 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of non-canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of MHC class I biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of MHC class I biosynthetic process 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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cysteine-type endopeptidase activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of interleukin-18 production NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    NOT located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    NACHT, LRR and PYD domains-containing protein 12
    Names
    PYRIN-containing APAF1-like protein 7
    monarch 1
    nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12
    regulated by nitric oxide

    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_008651.2 RefSeqGene

      Range
      5081..35654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_181

    mRNA and Protein(s)

    1. NM_001277126.2NP_001264055.1  NACHT, LRR and PYD domains-containing protein 12 isoform 3

      See identical proteins and their annotated locations for NP_001264055.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC008753, AY116204, AY154467
      Consensus CDS
      CCDS62785.1
      UniProtKB/TrEMBL
      A8K407
      Related
      ENSP00000375653.1, ENST00000391773.7
      Conserved Domains (6) summary
      COG4886
      Location:677954
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:7181036
      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:1392
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:716744
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:212381
      NACHT; NACHT domain
      pfam14484
      Location:129200
      FISNA; Fish-specific NACHT associated domain
    2. NM_001277129.1NP_001264058.1  NACHT, LRR and PYD domains-containing protein 12 isoform 4

      See identical proteins and their annotated locations for NP_001264058.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded isoform (4) is shorter than isoform 3.
      Source sequence(s)
      AK095460, AY154467, BC028069, DA619102
      Consensus CDS
      CCDS62784.1
      UniProtKB/TrEMBL
      A0A0C4DH17
      Related
      ENSP00000375655.3, ENST00000391775.7
      Conserved Domains (6) summary
      COG4886
      Location:711939
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:705978
      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:1392
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:715743
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:212381
      NACHT; NACHT domain
      pfam14484
      Location:129200
      FISNA; Fish-specific NACHT associated domain
    3. NM_144687.4NP_653288.1  NACHT, LRR and PYD domains-containing protein 12 isoform 2

      See identical proteins and their annotated locations for NP_653288.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the central coding region, compared to variant 3, resulting in an isoform (2) that is 1 aa shorter than isoform 3.
      Source sequence(s)
      AC008753, AY154467, BC028069
      Consensus CDS
      CCDS12864.1
      UniProtKB/Swiss-Prot
      A8MTQ2, B3KTE7, P59046, Q8NEU4, Q9BY26
      UniProtKB/TrEMBL
      A8K407
      Related
      ENSP00000319377.6, ENST00000324134.11
      Conserved Domains (6) summary
      cd00116
      Location:7171035
      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:1392
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:715743
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:212381
      NACHT; NACHT domain
      pfam14484
      Location:129200
      FISNA; Fish-specific NACHT associated domain
      cl26161
      Location:561866
      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 ...

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      53793584..53824403 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027462.2XP_016882951.1  NACHT, LRR and PYD domains-containing protein 12 isoform X3

      UniProtKB/TrEMBL
      A8K407
    2. XM_047439676.1XP_047295632.1  NACHT, LRR and PYD domains-containing protein 12 isoform X8

      UniProtKB/TrEMBL
      A0A0C4DFY3
    3. XM_047439673.1XP_047295629.1  NACHT, LRR and PYD domains-containing protein 12 isoform X4

      UniProtKB/TrEMBL
      A8K407
    4. XM_047439675.1XP_047295631.1  NACHT, LRR and PYD domains-containing protein 12 isoform X7

      UniProtKB/TrEMBL
      A0A0C4DFY3
    5. XM_011527479.2XP_011525781.1  NACHT, LRR and PYD domains-containing protein 12 isoform X2

      UniProtKB/TrEMBL
      A8K407
      Conserved Domains (6) summary
      COG4886
      Location:712954
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:688979
      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:1392
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:716744
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:212381
      NACHT; NACHT domain
      pfam14484
      Location:129200
      FISNA; Fish-specific NACHT associated domain
    6. XM_011527482.2XP_011525784.1  NACHT, LRR and PYD domains-containing protein 12 isoform X6

      UniProtKB/TrEMBL
      A0A0C4DFY3
      Related
      ENSP00000375652.1, ENST00000391772.1
      Conserved Domains (6) summary
      COG4886
      Location:712843
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:705922
      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:1392
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:716744
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:212381
      NACHT; NACHT domain
      pfam14484
      Location:129200
      FISNA; Fish-specific NACHT associated domain
    7. XM_011527480.2XP_011525782.1  NACHT, LRR and PYD domains-containing protein 12 isoform X1

      See identical proteins and their annotated locations for XP_011525782.1

      UniProtKB/TrEMBL
      A0A0C4DH17
      Conserved Domains (6) summary
      COG4886
      Location:712940
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:688979
      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:1392
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:716744
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:212381
      NACHT; NACHT domain
      pfam14484
      Location:129200
      FISNA; Fish-specific NACHT associated domain
    8. XM_017027463.2XP_016882952.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

      UniProtKB/TrEMBL
      A8K407
    9. XM_017027465.2XP_016882954.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

      UniProtKB/TrEMBL
      A8K407
    10. XM_017027464.2XP_016882953.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

      UniProtKB/TrEMBL
      A8K407
    11. XM_017027467.2XP_016882956.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

      UniProtKB/TrEMBL
      A8K407
    12. XM_047439674.1XP_047295630.1  NACHT, LRR and PYD domains-containing protein 12 isoform X5

      UniProtKB/TrEMBL
      A0A0C4DH17

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      56873043..56904207 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322598.1XP_054178573.1  NACHT, LRR and PYD domains-containing protein 12 isoform X3

      UniProtKB/TrEMBL
      A8K407
    2. XM_054322603.1XP_054178578.1  NACHT, LRR and PYD domains-containing protein 12 isoform X8

      UniProtKB/TrEMBL
      A0A0C4DFY3
    3. XM_054322599.1XP_054178574.1  NACHT, LRR and PYD domains-containing protein 12 isoform X4

      UniProtKB/TrEMBL
      A8K407
    4. XM_054322602.1XP_054178577.1  NACHT, LRR and PYD domains-containing protein 12 isoform X7

      UniProtKB/TrEMBL
      A0A0C4DFY3
    5. XM_054322597.1XP_054178572.1  NACHT, LRR and PYD domains-containing protein 12 isoform X2

      UniProtKB/TrEMBL
      A8K407
    6. XM_054322601.1XP_054178576.1  NACHT, LRR and PYD domains-containing protein 12 isoform X6

      UniProtKB/TrEMBL
      A0A0C4DFY3
    7. XM_054322596.1XP_054178571.1  NACHT, LRR and PYD domains-containing protein 12 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DH17
    8. XM_054322604.1XP_054178579.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

      UniProtKB/TrEMBL
      A8K407
    9. XM_054322606.1XP_054178581.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

      UniProtKB/TrEMBL
      A8K407
    10. XM_054322605.1XP_054178580.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

      UniProtKB/TrEMBL
      A8K407
    11. XM_054322607.1XP_054178582.1  NACHT, LRR and PYD domains-containing protein 12 isoform X9

      UniProtKB/TrEMBL
      A8K407
    12. XM_054322600.1XP_054178575.1  NACHT, LRR and PYD domains-containing protein 12 isoform X5

      UniProtKB/TrEMBL
      A0A0C4DH17

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033297.2: Suppressed sequence

      Description
      NM_033297.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.