Human Gene NLRP4 (ENST00000587891.5) from GENCODE V44
  Description: May be involved in inflammation. Acts as a negative regulator of the type I interferon signaling pathway by serving as an adapter to promote DTX4-mediated ubiquitination of activated TBK1, and its subsequent degradation. (from UniProt Q96MN2)
RefSeq Summary (NM_134444): The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). This gene product has a demonstrated role as a negative regulator of autophagy and type I interferon signaling pathways as a result of protein interactions with its NACHT domain. The PYD domain has also been shown to be important in the inhibition of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells). [provided by RefSeq, Dec 2016]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000587891.5
Gencode Gene: ENSG00000160505.16
Transcript (Including UTRs)
   Position: hg38 chr19:55,857,445-55,881,854 Size: 24,410 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr19:55,857,619-55,881,587 Size: 23,969 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:55,857,445-55,881,854)mRNA (may differ from genome)Protein (919 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMGIneXtProtPubMedReactomeUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: NALP4_HUMAN
DESCRIPTION: RecName: Full=NACHT, LRR and PYD domains-containing protein 4; AltName: Full=Cancer/testis antigen 58; Short=CT58; AltName: Full=PAAD and NACHT-containing protein 2; AltName: Full=PYRIN and NACHT-containing protein 2; AltName: Full=PYRIN-containing APAF1-like protein 4; AltName: Full=Ribonuclease inhibitor 2;
FUNCTION: May be involved in inflammation. Acts as a negative regulator of the type I interferon signaling pathway by serving as an adapter to promote DTX4-mediated ubiquitination of activated TBK1, and its subsequent degradation.
SIMILARITY: Belongs to the NLRP family.
SIMILARITY: Contains 1 DAPIN domain.
SIMILARITY: Contains 8 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 NACHT domain.
SEQUENCE CAUTION: Sequence=AAL88672.1; Type=Erroneous termination; Positions=41; Note=Translated as Gln;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.61 RPKM in Testis
Total median expression: 4.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.80174-0.229 Picture PostScript Text
3' UTR -64.60267-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004020 - DAPIN
IPR011029 - DEATH-like
IPR007111 - NACHT_NTPase

Pfam Domains:
PF02758 - PAAD/DAPIN/Pyrin domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4EWI - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96MN2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding

Biological Process:
GO:0006954 inflammatory response
GO:0032479 regulation of type I interferon production

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK315003 - Homo sapiens cDNA, FLJ95931, highly similar to Homo sapiens NACHT, leucine rich repeat and PYD containing 4(NALP4), mRNA.
BC050326 - Homo sapiens NLR family, pyrin domain containing 4, mRNA (cDNA clone MGC:48596 IMAGE:4837670), complete cds.
AF482706 - Homo sapiens ribonuclease inhibitor 2 (RNH2) mRNA, complete cds.
AF479747 - Homo sapiens PYRIN-containing APAF1-like protein 4 mRNA, complete cds.
AY072792 - Homo sapiens PAAD and NACHT-containing protein 2 (PAN2) mRNA, complete cds.
BC012789 - Homo sapiens cDNA clone IMAGE:3957172, containing frame-shift errors.
BC021272 - Homo sapiens cDNA clone IMAGE:4811303, containing frame-shift errors.
AF442488 - Homo sapiens NALP4 mRNA, complete cds.
KJ905006 - Synthetic construct Homo sapiens clone ccsbBroadEn_14400 NLRP4-like gene, encodes complete protein.
AK056688 - Homo sapiens cDNA FLJ32126 fis, clone PEBLM2000112, weakly similar to Homo sapiens nucleotide-binding site protein 1 mRNA.
BC016443 - Homo sapiens NLR family, pyrin domain containing 4, mRNA (cDNA clone IMAGE:3448931), partial cds.
JD363058 - Sequence 344082 from Patent EP1572962.
JD550431 - Sequence 531455 from Patent EP1572962.
JD419109 - Sequence 400133 from Patent EP1572962.
JD038852 - Sequence 19876 from Patent EP1572962.
JD510894 - Sequence 491918 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96MN2 (Reactome details) participates in the following event(s):

R-HSA-3249392 NLRP4 and DTX4 associate with p-S172-TBK1 within STING:TBK1:IRF3
R-HSA-8948703 NLRP4 and DTX4 associate with p-S172-TBK1 within dsDNA:ZBP1:TBK1
R-HSA-3249386 DTX4 ubiquitinates p-S172-TBK1 within NLRP4:DTX4:dsDNA:ZBP1:TBK1
R-HSA-8948709 DTX4 ubiquitinates p-S172-TBK1 within NLRP4:DTX4:STING:TBK1:IRF3
R-HSA-3134975 Regulation of innate immune responses to cytosolic DNA
R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: AK056688, ENST00000587891.1, ENST00000587891.2, ENST00000587891.3, ENST00000587891.4, NALP4, NALP4_HUMAN, PAN2, PYPAF4, Q86W87, Q96AY6, Q96MN2, RNH2, uc002qmf.1, uc002qmf.2, uc002qmf.3, uc002qmf.4
UCSC ID: ENST00000587891.5
RefSeq Accession: NM_134444
Protein: Q96MN2 (aka NALP4_HUMAN or NAL4_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.