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NLRP10 NLR family pyrin domain containing 10 [ Homo sapiens (human) ]

Gene ID: 338322, updated on 17-Jun-2019

Summary

Official Symbol
NLRP10provided by HGNC
Official Full Name
NLR family pyrin domain containing 10provided by HGNC
Primary source
HGNC:HGNC:21464
See related
Ensembl:ENSG00000182261 MIM:609662
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
NOD8; PAN5; PYNOD; NALP10; CLR11.1
Summary
Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward skin (RPKM 2.7) See more
Orthologs

Genomic context

See NLRP10 in Genome Data Viewer
Location:
11p15.4
Exon count:
3
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (7957537..7965427, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (7981156..7985059, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 10 subfamily A member 6 (gene/pseudogene) Neighboring gene olfactory receptor family 10 subfamily A member 3 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 5 Neighboring gene eukaryotic translation initiation factor 3 subunit F

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
defense response to Gram-negative bacterium IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response to fungus ISS
Inferred from Sequence or Structural Similarity
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T-helper 1 type immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of T-helper 17 type immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of defense response to bacterium IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-1 alpha secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-6 secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-8 secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NACHT, LRR and PYD domains-containing protein 10
Names
NACHT, leucine rich repeat and PYD containing 10
nucleotide-binding oligomerization domain protein 8
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10

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_046899.1 RefSeqGene

    Range
    6913..10816
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_176821.4NP_789791.1  NACHT, LRR and PYD domains-containing protein 10

    See identical proteins and their annotated locations for NP_789791.1

    Status: REVIEWED

    Source sequence(s)
    AC044810, AY489192
    Consensus CDS
    CCDS7784.1
    UniProtKB/Swiss-Prot
    Q86W26
    Related
    ENSP00000327763.2, ENST00000328600.3
    Conserved Domains (2) summary
    cd08321
    Location:1090
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    pfam05729
    Location:167331
    NACHT; NACHT domain

RefSeqs of Annotated Genomes: Homo sapiens 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_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    7957537..7965427 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520043.3XP_011518345.1  NACHT, LRR and PYD domains-containing protein 10 isoform X1

    See identical proteins and their annotated locations for XP_011518345.1

    UniProtKB/Swiss-Prot
    Q86W26
    Conserved Domains (2) summary
    cd08321
    Location:1090
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    pfam05729
    Location:167331
    NACHT; NACHT domain

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332695.1 Reference GRCh38.p13 PATCHES

    Range
    188531..194668 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187583.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    189038..195175 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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