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

    Gene ID: 338323, updated on 5-Mar-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
    mouse all
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    Genomic context

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    Location:
    11p15.4
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (7020446..7090900)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (7078824..7149635)
    105.20220307 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 (13) 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)

    Genotypes

    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_2023_10

    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

    Gene LinkOut

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