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

Gene ID: 147945, updated on 13-Mar-2020

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
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

Genomic context

See NLRP4 in Genome Data Viewer
Location:
19q13.43
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (55836540..55881855)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56347944..56393221)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes 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 NLR family pyrin domain containing 13 Neighboring gene NLR family pyrin domain containing 8

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

Homology

Clone Names

  • FLJ32126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
regulation of type I interferon production TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
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)

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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 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

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

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