NLRP11 NLR family pyrin domain containing 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NLRP11provided by HGNC
Official Full Name: NLR family pyrin domain containing 11provided by HGNC
Primary source: HGNC:HGNC:22945
See related: Ensembl:ENSG00000179873 MIM:609664; AllianceGenome:HGNC:22945
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: NOD17; PAN10; NALP11; PYPAF6; PYPAF7; CLR19.6
Summary: This gene is a member of the the NOD-like receptor protein (NLRP) gene family and encodes a protein with an N-terminal pyrin death (PYD) domain and nucleoside triphosphate hydrolase (NACHT) domain and a C-terminal leucine-rich repeats (LRR) region. This gene has been shown to regulate caspases in the proinflammatory signal transduction pathway and, based on studies of other members of the NLRP gene family with similar domain structure, is predicted to form part of the multiprotein inflammasome complex. Alternative splicing produces multiple transcript variants encoding distince isoforms. [provided by RefSeq, May 2017]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 19q13.42-q13.43

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (55785399..55836575, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (58884750..58935921, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (56296765..56347941, complement)

Chromosome 19 - NC_000019.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NLRP11 is a pattern recognition receptor for bacterial lipopolysaccharide in the cytosol of human macrophages.
Title: NLRP11 is a pattern recognition receptor for bacterial lipopolysaccharide in the cytosol of human macrophages.
Adenosine-Induced NLRP11 in B Lymphoblasts Suppresses Human CD4(+) T Helper Cell Responses.
Title: Adenosine-Induced NLRP11 in B Lymphoblasts Suppresses Human CD4(+) T Helper Cell Responses.
Data suggest that NLRP11 plays novel role in myeloid cells and B-lymphocytes (where NLRP11 expression is high); expression of NLRP11 in both tumor and non-tumor cell lines down-regulates NFkappaB and interferon type I signaling responses.
Title: The NLR family pyrin domain-containing 11 protein contributes to the regulation of inflammatory signaling.
Using MAVS as a platform, NLRP11 degrades TRAF6 to attenuate the production of type I IFNs as well as virus-induced apoptosis. Our findings reveal the regulatory role of NLRP11 in antiviral immunity by disrupting MAVS signalosome.
Title: NLRP11 disrupts MAVS signalosome to inhibit type I interferon signaling and virus-induced apoptosis.
Observational study of gene-disease association. (HuGE Navigator)
Title: The genetics of NOD-like receptors in Crohn's disease.

Submit: New GeneRIF Correction

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
A genome-wide association study of early menopause and the combined impact of identified variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 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 RNA binding	HDA more info	PubMed
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
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

General protein information

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Preferred Names: NACHT, LRR and PYD domains-containing protein 11

Names: NACHT, leucine rich repeat and PYD containing 11; PAAD- and NACHT-containing protein 10B; PAAD-and NACHT domain-containing protein 10; PYRIN-containing APAF1-like protein 6; nucleotide-binding oligomerization domain protein 17; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11

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_054722.1 RefSeqGene

Range

9764..56364

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001297743.3 → NP_001284672.1 NACHT, LRR and PYD domains-containing protein 11 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC008749, AC012310

Consensus CDS

CCDS74458.1

UniProtKB/Swiss-Prot

P59045

Related

ENSP00000468196.1, ENST00000592953.5

Conserved Domains (4) summary

cd00116
Location:580 → 855

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 ...

sd00033
Location:536 → 564

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:792 → 819

LRR_AMN1; leucine-rich repeat [structural motif]

cl21455
Location:50 → 216

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001385451.2 → NP_001372380.1 NACHT, LRR and PYD domains-containing protein 11 isoform 3

Status: REVIEWED

Source sequence(s)

AC008749, AC012310

Consensus CDS

CCDS92693.1

Related

ENSP00000468082.1, ENST00000589824.6

Conserved Domains (5) summary

cd08320
Location:11 → 91

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00034
Location:666 → 693

LRR_AMN1; leucine-rich repeat [structural motif]

pfam17776
Location:450 → 559

NLRC4_HD2; NLRC4 helical domain HD2

cl39015
Location:625 → 900

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 ...

cl40481
Location:149 → 315

YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
NM_001385453.2 → NP_001372382.1 NACHT, LRR and PYD domains-containing protein 11 isoform 4

Status: REVIEWED

Source sequence(s)

AC008749, AC012310

Conserved Domains (5) summary

cd08320
Location:11 → 91

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:635 → 663

LRR_RI; leucine-rich repeat [structural motif]

pfam17776
Location:450 → 559

NLRC4_HD2; NLRC4 helical domain HD2

cl39015
Location:625 → 897

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 ...

cl40481
Location:149 → 315

YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
NM_001394894.2 → NP_001381823.1 NACHT, LRR and PYD domains-containing protein 11 isoform 1

Status: REVIEWED

Source sequence(s)

AC008749, AC012310

Consensus CDS

CCDS12935.1

UniProtKB/Swiss-Prot

C9JSF5, P59045, Q2TV85, Q2TV86, Q53ZZ0, Q8NBF5

Related

ENSP00000466285.1, ENST00000589093.6

Conserved Domains (6) summary

cd08320
Location:11 → 91

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:635 → 663

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:891 → 918

LRR_AMN1; leucine-rich repeat [structural motif]

pfam17776
Location:450 → 559

NLRC4_HD2; NLRC4 helical domain HD2

cl39015
Location:679 → 954

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 ...

cl40481
Location:149 → 315

YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
NM_145007.5 → NP_659444.2 NACHT, LRR and PYD domains-containing protein 11 isoform 1

See identical proteins and their annotated locations for NP_659444.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC008749, AC012310

Consensus CDS

CCDS12935.1

UniProtKB/Swiss-Prot

C9JSF5, P59045, Q2TV85, Q2TV86, Q53ZZ0, Q8NBF5

Conserved Domains (6) summary

cd08320
Location:11 → 91

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:635 → 663

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:891 → 918

LRR_AMN1; leucine-rich repeat [structural motif]

pfam17776
Location:450 → 559

NLRC4_HD2; NLRC4 helical domain HD2

cl39015
Location:679 → 954

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 ...

cl40481
Location:149 → 315

YlqF_related_GTPase; Circularly permuted YlqF-related GTPases

RNA

NR_169620.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC008749, AC012310

Related

ENST00000590409.5
NR_169621.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC008749, AC012310
NR_169622.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC008749, AC012310