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

Gene ID: 91662, updated on 5-Aug-2018

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; Vega:OTTHUMG00000060776
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

Genomic context

See NLRP12 in Genome Data Viewer
Location:
19q13.42
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (53793584..53824403, complement)
105 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 microRNA 372 Neighboring gene microRNA 373 Neighboring gene uncharacterized LOC105372457 Neighboring gene myeloid associated differentiation marker Neighboring gene protein kinase C gamma

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystem (from WikiPathways)
    Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
cysteine-type endopeptidase activator activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
cellular response to cytokine stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to cytokine stimulus IEA
Inferred from Electronic Annotation
more info
 
dendritic cell migration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
negative regulation of I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of NIK/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Toll signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cytokine secretion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of interleukin-1 secretion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of interleukin-6 biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of interleukin-6 biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MHC class I biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of MHC class I biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of NIK/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of inflammatory response NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of interleukin-1 beta secretion NAS
Non-traceable Author Statement
more info
PubMed 
regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of interleukin-18 biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
NOT 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)

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_008651.1 RefSeqGene

    Range
    4992..35811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001277126.1NP_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)
    AY116204, AY154467, DA619102
    Consensus CDS
    CCDS62785.1
    UniProtKB/Swiss-Prot
    P59046
    Related
    ENSP00000375653.1, OTTHUMP00000067227, ENST00000391773.5, OTTHUMT00000134341
    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/Swiss-Prot
    P59046
    Related
    ENSP00000375655.3, OTTHUMP00000067228, ENST00000391775.7, OTTHUMT00000134342
    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_144687.3NP_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)
    AY154467, BC028069, DA619102
    Consensus CDS
    CCDS12864.1
    UniProtKB/Swiss-Prot
    P59046
    Related
    ENSP00000319377.6, OTTHUMP00000067226, ENST00000324134.10, OTTHUMT00000134340
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017027462.1XP_016882951.1  NACHT, LRR and PYD domains-containing protein 12 isoform X5

  2. XM_011527479.1XP_011525781.1  NACHT, LRR and PYD domains-containing protein 12 isoform X2

    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
  3. XM_011527482.1XP_011525784.1  NACHT, LRR and PYD domains-containing protein 12 isoform X6

    Related
    ENSP00000375652.1, OTTHUMP00000067287, ENST00000391772.1, OTTHUMT00000134431
    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
  4. XM_011527480.1XP_011525782.1  NACHT, LRR and PYD domains-containing protein 12 isoform X3

    See identical proteins and their annotated locations for XP_011525782.1

    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
  5. XM_017027460.1XP_016882949.1  NACHT, LRR and PYD domains-containing protein 12 isoform X1

  6. XM_017027465.1XP_016882954.1  NACHT, LRR and PYD domains-containing protein 12 isoform X7

  7. XM_017027464.1XP_016882953.1  NACHT, LRR and PYD domains-containing protein 12 isoform X7

  8. XM_017027463.1XP_016882952.1  NACHT, LRR and PYD domains-containing protein 12 isoform X7

  9. XM_017027467.1XP_016882956.1  NACHT, LRR and PYD domains-containing protein 12 isoform X7

  10. XM_017027466.1XP_016882955.1  NACHT, LRR and PYD domains-containing protein 12 isoform X7

  11. XM_017027461.1XP_016882950.1  NACHT, LRR and PYD domains-containing protein 12 isoform X4

    Related
    ENSP00000341428.5, OTTHUMP00000067229, ENST00000345770.9, OTTHUMT00000134343

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.
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