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NLRP8 NLR family pyrin domain containing 8 [ Homo sapiens (human) ]

Gene ID: 126205, updated on 5-Aug-2022

Summary

Official Symbol
NLRP8provided by HGNC
Official Full Name
NLR family pyrin domain containing 8provided by HGNC
Primary source
HGNC:HGNC:22940
See related
Ensembl:ENSG00000179709 MIM:609659; AllianceGenome:HGNC:22940
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
PAN4; NALP8; NOD16; CLR19.2
Summary
This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See NLRP8 in Genome Data Viewer
Location:
19q13.43
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55947832..55988629)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (59047150..59087952)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56459198..56499995)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NLR family pyrin domain containing 11 Neighboring gene NLR family pyrin domain containing 4 Neighboring gene NLR family pyrin domain containing 13 Neighboring gene NLR family pyrin domain containing 5 Neighboring gene long intergenic non-protein coding RNA 1864

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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
NACHT, LRR and PYD domains-containing protein 8
Names
NACHT, leucine rich repeat and PYD containing 8
PYRIN and NACHT-containing protein 4
nucleotide-binding oligomerization domain protein 16
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8

NCBI Reference Sequences (RefSeq)

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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_051553.1 RefSeqGene

    Range
    5001..45798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317000.1NP_001303929.1  NACHT, LRR and PYD domains-containing protein 8 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AY154463, BK001109
    Consensus CDS
    CCDS82402.1
    UniProtKB/Swiss-Prot
    Q86W28
    Related
    ENSP00000468121.1, ENST00000590542.1
    Conserved Domains (6) summary
    COG4886
    Location:810974
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:775988
    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:41123
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:818846
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:734760
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl21455
    Location:205372
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_176811.2NP_789781.2  NACHT, LRR and PYD domains-containing protein 8 isoform 1

    See identical proteins and their annotated locations for NP_789781.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BK001109
    Consensus CDS
    CCDS12937.1
    UniProtKB/Swiss-Prot
    Q7RTR4, Q86W28
    Related
    ENSP00000291971.3, ENST00000291971.7
    Conserved Domains (5) summary
    COG4886
    Location:810993
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:7811007
    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:41123
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00034
    Location:790817
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl21455
    Location:205372
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    55947832..55988629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    59047150..59087952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)