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

Gene ID: 204801, updated on 26-Oct-2022

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
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Genomic context

See NLRP11 in Genome Data Viewer
Location:
19q13.42-q13.43
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55785399..55836575, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58884750..58935921, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56296765..56347941, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ret finger protein like 4A like 1 Neighboring gene ret finger protein like 4A pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 15410 Neighboring gene NLR family pyrin domain containing 4 Neighboring gene NLR family pyrin domain containing 13 Neighboring gene NLR family pyrin domain containing 8

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

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study of early menopause and the combined impact of identified variants.
EBI GWAS Catalog
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
EBI GWAS Catalog
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
EBI GWAS Catalog
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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

  1. NG_054722.1 RefSeqGene

    Range
    9764..56364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001297743.3NP_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:580855
    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:536564
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:792819
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl21455
    Location:50216
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_001385451.2NP_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:1191
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00034
    Location:666693
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam17776
    Location:450559
    NLRC4_HD2; NLRC4 helical domain HD2
    cl39015
    Location:625900
    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:149315
    YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
  3. NM_001385453.2NP_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:1191
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:635663
    LRR_RI; leucine-rich repeat [structural motif]
    pfam17776
    Location:450559
    NLRC4_HD2; NLRC4 helical domain HD2
    cl39015
    Location:625897
    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:149315
    YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
  4. NM_001394894.2NP_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
    Q8NBF5
    Related
    ENSP00000466285.1, ENST00000589093.6
    Conserved Domains (6) summary
    cd08320
    Location:1191
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:635663
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:891918
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam17776
    Location:450559
    NLRC4_HD2; NLRC4 helical domain HD2
    cl39015
    Location:679954
    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:149315
    YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
  5. NM_145007.5NP_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
    P59045, Q8NBF5
    Conserved Domains (6) summary
    cd08320
    Location:1191
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:635663
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:891918
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam17776
    Location:450559
    NLRC4_HD2; NLRC4 helical domain HD2
    cl39015
    Location:679954
    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:149315
    YlqF_related_GTPase; Circularly permuted YlqF-related GTPases

RNA

  1. NR_169620.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC008749, AC012310
    Related
    ENST00000590409.5
  2. NR_169621.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC008749, AC012310
  3. NR_169622.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC008749, AC012310

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
    55785399..55836575 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    58884750..58935921 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)