U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    NLRP4 NLR family pyrin domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 147945, updated on 10-Dec-2024

    Summary

    Official Symbol
    NLRP4provided by HGNC
    Official Full Name
    NLR family pyrin domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:22943
    See related
    Ensembl:ENSG00000160505 MIM:609645; AllianceGenome:HGNC:22943
    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
    CT58; PAN2; RNH2; NALP4; PYPAF4; CLR19.5
    Summary
    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]
    Expression
    Biased expression in testis (RPKM 3.5), lymph node (RPKM 0.8) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NLRP4 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55836540..55881855)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58935886..58981193)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56347906..56393221)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ret finger protein like 4A like 1 Neighboring gene ret finger protein like 4A pseudogene 1 Neighboring gene NLR family pyrin domain containing 11 Neighboring gene Sharpr-MPRA regulatory region 15410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:56334044-56334598 Neighboring gene NLR family pyrin domain containing 13 Neighboring gene NLR family pyrin domain containing 8 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:56480507-56481706

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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

    Clone Names

    • FLJ32126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    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 cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    NACHT, LRR and PYD domains-containing protein 4
    Names
    NACHT, leucine rich repeat and PYD containing 4
    PAAD and NACHT-containing protein 2
    PYRIN and NACHT-containing protein 2
    PYRIN-containing APAF1-like protein 4
    cancer/testis antigen 58
    nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4
    ribonuclease inhibitor 2

    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_052802.1 RefSeqGene

      Range
      4963..50278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_134444.5NP_604393.2  NACHT, LRR and PYD domains-containing protein 4

      See identical proteins and their annotated locations for NP_604393.2

      Status: REVIEWED

      Source sequence(s)
      AC012310, AF479747, AK315003, BE302040, BU632773
      Consensus CDS
      CCDS12936.1
      UniProtKB/Swiss-Prot
      Q86W87, Q96AY6, Q96MN2
      UniProtKB/TrEMBL
      B2RCA1
      Related
      ENSP00000301295.4, ENST00000301295.11
      Conserved Domains (7) summary
      smart00382
      Location:147279
      AAA; ATPases associated with a variety of cellular activities
      cd00116
      Location:724957
      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:1192
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:640668
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:895922
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:149318
      NACHT; NACHT domain
      cl00416
      Location:512570
      CS_ACL-C_CCL; Citrate synthase (CS), citryl-CoA lyase (CCL), the C-terminal portion of the single-subunit type ATP-citrate lyase (ACL) and the C-terminal portion of the large subunit of the two-subunit type ACL. CS catalyzes the condensation of acetyl coenzyme A ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      55836540..55881855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026345.1XP_016881834.1  NACHT, LRR and PYD domains-containing protein 4 isoform X2

      UniProtKB/TrEMBL
      B2RCA1
    2. XM_017026344.1XP_016881833.1  NACHT, LRR and PYD domains-containing protein 4 isoform X1

      UniProtKB/TrEMBL
      B2RCA1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58935886..58981193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319921.1XP_054175896.1  NACHT, LRR and PYD domains-containing protein 4 isoform X2

      UniProtKB/TrEMBL
      B2RCA1
    2. XM_054319920.1XP_054175895.1  NACHT, LRR and PYD domains-containing protein 4 isoform X1

      UniProtKB/TrEMBL
      B2RCA1