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

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

Summary

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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_176822.4NP_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:175308
    AAA; ATPases associated with a variety of cellular activities
    COG1357
    Location:701971
    YjbI; Uncharacterized protein YjbI, contains pentapeptide repeats [Function unknown]
    cd00116
    Location:7321050
    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:1597
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:731759
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:179346
    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_011520044.2XP_011518346.1  NACHT, LRR and PYD domains-containing protein 14 isoform X1

    Conserved Domains (6) summary
    smart00382
    Location:175308
    AAA; ATPases associated with a variety of cellular activities
    COG1357
    Location:718971
    YjbI; Uncharacterized protein YjbI, contains pentapeptide repeats [Function unknown]
    cd00116
    Location:716994
    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:1597
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00034
    Location:704730
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam05729
    Location:179346
    NACHT; NACHT domain
  2. XM_047426867.1XP_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_054368619.1XP_054224594.1  NACHT, LRR and PYD domains-containing protein 14 isoform X1

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