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

Gene ID: 338322, updated on 26-Oct-2022

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; AllianceGenome:HGNC:21464
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
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Genomic context

See NLRP10 in Genome Data Viewer
Location:
11p15.4
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (7957537..7965447, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (8036705..8044619, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (7979084..7986994, 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in defense response to Gram-negative bacterium IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in defense response to fungus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of T-helper 1 type immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of T-helper 17 type immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of defense response to bacterium IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of interleukin-1 alpha production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of interleukin-6 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of interleukin-8 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

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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_046899.1 RefSeqGene

    Range
    4978..12888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001391958.1NP_001378887.1  NACHT, LRR and PYD domains-containing protein 10

    Status: REVIEWED

    Source sequence(s)
    AC044810
    Consensus CDS
    CCDS7784.1
    UniProtKB/Swiss-Prot
    Q6JGT0
    Related
    ENSP00000509542.1, ENST00000691676.1
    Conserved Domains (3) summary
    cd08321
    Location:1090
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    pfam05729
    Location:167331
    NACHT; NACHT domain
    pfam17779
    Location:409464
    NOD2_WH; NOD2 winged helix domain
  2. 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
    Q6JGT0, Q86W26
    Related
    ENSP00000327763.2, ENST00000328600.3
    Conserved Domains (3) summary
    cd08321
    Location:1090
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    pfam05729
    Location:167331
    NACHT; NACHT domain
    pfam17779
    Location:409464
    NOD2_WH; NOD2 winged helix domain

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    7957537..7965447 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332695.1 Reference GRCh38.p14 PATCHES

    Range
    188531..196441 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187583.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    189038..196948 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    8036705..8044619 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)