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

    Gene ID: 126204, updated on 28-Oct-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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    See NLRP13 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55891692..55932336, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58991021..59031660, complement)
    RS_2024_09 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 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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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