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NLRP14 NLR family pyrin domain containing 14 [ Homo sapiens (human) ]

Gene ID: 338323, updated on 3-Nov-2024

Summary

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Official Symbol
NLRP14provided by HGNC
Official Full Name
NLR family pyrin domain containing 14provided by HGNC
Primary source
HGNC:HGNC:22939
See related
Ensembl:ENSG00000158077 MIM:609665; AllianceGenome:HGNC:22939
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
NOD5; PAN8; GC-LRR; NALP14; CLR11.2
Summary
The protein encoded by this gene belongs to the NALP protein family. 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). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See NLRP14 in Genome Data Viewer
Location:
11p15.4
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (7020446..7090900)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (7078824..7149635)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (7041710..7092757)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724711 Neighboring gene zinc finger protein 215 Neighboring gene Sharpr-MPRA regulatory region 9308 Neighboring gene zinc finger protein 214 Neighboring gene Sharpr-MPRA regulatory region 5166 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:7098372-7098571 Neighboring gene Sharpr-MPRA regulatory region 4980 Neighboring gene RBMX like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3108 Neighboring gene microRNA 302e Neighboring gene NANOG hESC enhancer GRCh37_chr11:7296267-7296768 Neighboring gene synaptotagmin 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4359 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:7438930-7440129 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4360 Neighboring gene Sharpr-MPRA regulatory region 13298 Neighboring gene NANOG hESC enhancer GRCh37_chr11:7472795-7473306 Neighboring gene SYT9 antisense RNA 1

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. Germ-Cell-Specific Inflammasome Component NLRP14 Negatively Regulates Cytosolic Nucleic Acid Sensing to Promote Fertilization. Abe T, et al. Immunity, 2017 Apr 18. PMID 28423339, Free PMC Article
  2. Intrinsic flexibility of NLRP pyrin domains is a key factor in their conformational dynamics, fold stability, and dimerization. Huber RG, et al. Protein Sci, 2015 Feb. PMID 25403012, Free PMC Article
  3. Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure. Westerveld GH, et al. Hum Reprod, 2006 Dec. PMID 16931801
  4. The NLR gene family: a standard nomenclature. Ting JP, et al. Immunity, 2008 Mar. PMID 18341998, Free PMC Article
  5. NODs: intracellular proteins involved in inflammation and apoptosis. Inohara N, et al. Nat Rev Immunol, 2003 May. PMID 12766759

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NLRP14 deficiency causes female infertility with oocyte maturation defects and early embryonic arrest by impairing cytoplasmic UHRF1 abundance.
    Title: NLRP14 deficiency causes female infertility with oocyte maturation defects and early embryonic arrest by impairing cytoplasmic UHRF1 abundance.
  2. Data show that NLRP14 expression was rapidly downregulated after fertilization.
    Title: Germ-Cell-Specific Inflammasome Component NLRP14 Negatively Regulates Cytosolic Nucleic Acid Sensing to Promote Fertilization.
  3. This study describes conformational stability of native NLRP14 and mutants in their monomeric and dimeric states and compares them to NLRP4, a representative of a native pyrin domain fold.
    Title: Intrinsic flexibility of NLRP pyrin domains is a key factor in their conformational dynamics, fold stability, and dimerization.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: The genetics of NOD-like receptors in Crohn's disease.
  6. Our data suggest that NALP14 has a function in spermatogenesis and that mutations in this gene might cause spermatogenic failure.
    Title: Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure.
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

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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Markers

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 cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 14
Names
NACHT, LRR and PYD containing protein 14
NACHT, leucine rich repeat and PYD containing 14
nucleotide-binding oligomerization domain protein 5
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14

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_046900.1 RefSeqGene

    Range
    5034..56081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_176822.4 → NP_789792.1  NACHT, LRR and PYD domains-containing protein 14

    See identical proteins and their annotated locations for NP_789792.1

    Status: REVIEWED

    Source sequence(s)
    AC100875
    Consensus CDS
    CCDS7776.1
    UniProtKB/Swiss-Prot
    Q7RTR6, Q86W24
    Related
    ENSP00000299481.5, ENST00000299481.5
    Conserved Domains (6) summary
    smart00382
    Location:175 → 308
    AAA; ATPases associated with a variety of cellular activities
    COG1357
    Location:701 → 971
    YjbI; Uncharacterized protein YjbI, contains pentapeptide repeats [Function unknown]
    cd00116
    Location:732 → 1050
    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:15 → 97
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:731 → 759
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:179 → 346
    NACHT; NACHT domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    7020446..7090900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520044.2 → XP_011518346.1  NACHT, LRR and PYD domains-containing protein 14 isoform X1

    Conserved Domains (6) summary
    smart00382
    Location:175 → 308
    AAA; ATPases associated with a variety of cellular activities
    COG1357
    Location:718 → 971
    YjbI; Uncharacterized protein YjbI, contains pentapeptide repeats [Function unknown]
    cd00116
    Location:716 → 994
    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:15 → 97
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00034
    Location:704 → 730
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:179 → 346
    NACHT; NACHT domain

  2. XM_047426867.1 → XP_047282823.1  NACHT, LRR and PYD domains-containing protein 14 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    7078824..7149635
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368619.1 → XP_054224594.1  NACHT, LRR and PYD domains-containing protein 14 isoform X1

  2. XM_054368620.1 → XP_054224595.1  NACHT, LRR and PYD domains-containing protein 14 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86W24.1 GenPept UniProtKB/Swiss-Prot:Q86W24

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