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

Gene ID: 91662, updated on 1-Mar-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
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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.