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NLRP13 NLR family pyrin domain containing 13 [ Homo sapiens (human) ]

Gene ID: 126204, updated on 5-Mar-2024

Summary

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Official Symbol
NLRP13provided by HGNC
Official Full Name
NLR family pyrin domain containing 13provided by HGNC
Primary source
HGNC:HGNC:22937
See related
Ensembl:ENSG00000173572 MIM:609660; AllianceGenome:HGNC:22937
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
NOD14; PAN13; NALP13; CLR19.7
Summary
This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
19q13.43
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55891692..55932336, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58991021..59031660, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56403058..56443702, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ret finger protein like 4A pseudogene 1 Neighboring gene NLR family pyrin domain containing 11 Neighboring gene Sharpr-MPRA regulatory region 15410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:56334044-56334598 Neighboring gene NLR family pyrin domain containing 4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:56480507-56481706 Neighboring gene NLR family pyrin domain containing 8 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:56537936-56539135 Neighboring gene NLR family pyrin domain containing 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. What do we know about the inflammasome in humans? Amin J, et al. Brain Pathol, 2017 Mar. PMID 27997042, Free PMC Article
  2. The NLR gene family: a standard nomenclature. Ting JP, et al. Immunity, 2008 Mar. PMID 18341998, Free PMC Article
  3. NODs: intracellular proteins involved in inflammation and apoptosis. Inohara N, et al. Nat Rev Immunol, 2003 May. PMID 12766759
  4. The genetics of NOD-like receptors in Crohn's disease. Cummings JR, et al. Tissue Antigens, 2010 Jul. PMID 20403135
  5. NALPs: a novel protein family involved in inflammation. Tschopp J, et al. Nat Rev Mol Cell Biol, 2003 Feb. PMID 12563287

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding 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 13
Names
NACHT, LRR and PYD containing protein 13
NACHT, leucine rich repeat and PYD containing 13
nucleotide-binding oligomerization domain protein 14
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13

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_053013.1 RefSeqGene

    Range
    5001..41392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321057.1 → NP_001307986.1  NACHT, LRR and PYD domains-containing protein 13 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AY154468, BK001108
    Consensus CDS
    CCDS82401.1
    UniProtKB/TrEMBL
    A0A0C4DGQ4
    Related
    ENSP00000467899.1, ENST00000588751.5
    Conserved Domains (6) summary
    smart00382
    Location:229 → 362
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:718 → 977
    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 ...
    cd08320
    Location:17 → 107
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:784 → 811
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:728 → 756
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:230 → 401
    NACHT; NACHT domain

  2. NM_176810.2 → NP_789780.2  NACHT, LRR and PYD domains-containing protein 13 isoform 1

    See identical proteins and their annotated locations for NP_789780.2

    Status: REVIEWED

    Source sequence(s)
    AC012310, AY154468, BK001108
    Consensus CDS
    CCDS33119.1
    UniProtKB/Swiss-Prot
    Q7RTR5, Q86W25
    Related
    ENSP00000343891.3, ENST00000342929.4
    Conserved Domains (6) summary
    smart00382
    Location:229 → 362
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:755 → 1042
    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 ...
    cd08320
    Location:17 → 107
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:784 → 811
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:728 → 756
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:230 → 401
    NACHT; NACHT domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    55891692..55932336 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    58991021..59031660 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86W25.2 GenPept UniProtKB/Swiss-Prot:Q86W25

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