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

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: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (7957537..7965447, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (8036705..8044619, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (7979084..7986994, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NLRP10 maintains epidermal homeostasis by promoting keratinocyte survival and P63-dependent differentiation and barrier function.
Title: NLRP10 maintains epidermal homeostasis by promoting keratinocyte survival and P63-dependent differentiation and barrier function.
NLRP10 promotes AGEs-induced NLRP1 and NLRP3 inflammasome activation via ROS/MAPK/NF-kappaB signaling in human periodontal ligament cells.
Title: NLRP10 promotes AGEs-induced NLRP1 and NLRP3 inflammasome activation via ROS/MAPK/NF-κB signaling in human periodontal ligament cells.
Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population.
Title: Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population.
this study shows that NLRP10 affects the stability of Abin-1 to control inflammatory responses
Title: NLRP10 Affects the Stability of Abin-1 To Control Inflammatory Responses.
Authors observed an important role of NLRP10 in cytokine and chemokine production as well as expression of NF-kappaB and MAPKs in CSE-exposed A549 cells. Furthermore, replenishment of A549 cell culture with recombinant IL-17A (rIL-17A) during NLRP10 knockdown rescued CSE-induced inflammatory responses.
Title: Cigarette smoke-induced inflammation: NLRP10-mediated mechanisms.
these data suggest that NLRP10 is involved in activating the ERK signalling pathway in oral epithelial cell line infected with Tannerella forsythia and Fusobacterium nucleatum
Title: Involvement of NLRP10 in IL-1α induction of oral epithelial cells by periodontal pathogens.
Review summarize recent advances of the role of of human and murine NLRP10 in innate and adaptive immune responses. [Review]
Title: Roles of NLRP10 in innate and adaptive immunity.
These data revealed a novel role of NLRP10 in innate immune responses towards bacterial infection and suggest that NLRP10 functions as a scaffold for the formation of the NOD1-Nodosome.
Title: NLRP10 enhances Shigella-induced pro-inflammatory responses.
The results show that either deletion of the p53 binding elements within the PYNOD promoter or treatment with p53 inhibitor could significantly reduce PYNOD promoter activity.
Title: Functional characterization of the p53 binding site in the human PYNOD promoter.
Transgenic PYNOD colocalizes with apoptosis-associated speck-like protein containing a caspase recruitment domain (ASC) and inhibits caspase-1-mediated interleukin (IL)-1beta processing without inhibiting caspase-4-mediated caspase-1 processing.
Title: Anti-inflammatory activity of PYNOD and its mechanism in humans and mice.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 activation of innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
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	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

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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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

NG_046899.1 RefSeqGene

Range

4978..12888

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC044810

Consensus CDS

CCDS7784.1

UniProtKB/Swiss-Prot

Q2M3C4, Q6JGT0, Q86W26

Related

ENSP00000509542.1, ENST00000691676.1

Conserved Domains (3) summary

cd08321
Location:10 → 90

Pyrin_ASC-like; Pyrin Death Domain found in ASC

pfam05729
Location:167 → 331

NACHT; NACHT domain

pfam17779
Location:409 → 464

NOD2_WH; NOD2 winged helix domain
NM_176821.4 → NP_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

Q2M3C4, Q6JGT0, Q86W26

Related

ENSP00000327763.2, ENST00000328600.3

Conserved Domains (3) summary

cd08321
Location:10 → 90

Pyrin_ASC-like; Pyrin Death Domain found in ASC

pfam05729
Location:167 → 331

NACHT; NACHT domain

pfam17779
Location:409 → 464

NOD2_WH; NOD2 winged helix domain