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    NPTXR neuronal pentraxin receptor [ Homo sapiens (human) ]

    Gene ID: 23467, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NPTXRprovided by HGNC
    Official Full Name
    neuronal pentraxin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:7954
    See related
    Ensembl:ENSG00000221890 MIM:609474; AllianceGenome:HGNC:7954
    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
    NPR
    Summary
    This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 73.3), heart (RPKM 6.6) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NPTXR in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38818452..38844028, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39288799..39314406, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39214457..39240033, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene GTP binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19020 Neighboring gene Sad1 and UNC84 domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39156221-39157045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39175672-39176172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13732 Neighboring gene dynein axonemal light chain 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39255577-39256456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39260057-39260936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39260937-39261814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39261933-39262744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13736 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:39268427-39268977 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:39269364-39270563 Neighboring gene chromobox 6 Neighboring gene uncharacterized LOC105373032 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63270 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63315 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63367 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_63385 and experimental_63387

    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. Decreased cerebrospinal fluid neuronal pentraxin receptor is associated with PET-Aβ load and cerebrospinal fluid Aβ in a pilot study of Alzheimer's disease. Lim B, et al. Neurosci Lett, 2020 Jul 13. PMID 32450185
    2. Neuronal pentraxin receptor in cerebrospinal fluid as a potential biomarker for neurodegenerative diseases. Yin GN, et al. Brain Res, 2009 Apr 10. PMID 19368810
    3. Specific sensitivity of small cell lung cancer cell lines to the snake venom toxin taipoxin. Poulsen TT, et al. Lung Cancer, 2005 Dec. PMID 16115696
    4. Neuronal pentraxin receptor, a novel putative integral membrane pentraxin that interacts with neuronal pentraxin 1 and 2 and taipoxin-associated calcium-binding protein 49. Dodds DC, et al. J Biol Chem, 1997 Aug 22. PMID 9261167
    5. Presynaptic Neuronal Pentraxin Receptor Organizes Excitatory and Inhibitory Synapses. Lee SJ, et al. J Neurosci, 2017 Feb 1. PMID 27986928, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Decreased cerebrospinal fluid neuronal pentraxin receptor is associated with PET-Abeta load and cerebrospinal fluid Abeta in a pilot study of Alzheimer's disease.
      Title: Decreased cerebrospinal fluid neuronal pentraxin receptor is associated with PET-Aβ load and cerebrospinal fluid Aβ in a pilot study of Alzheimer's disease.
    2. 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.
    3. study suggests that NCAM-120, alpha-dystroglycan, and NPR are candidate biomarkers in CSF for neurodegenerative diseases, and that the changes in the CSF level of NPR may be specific for Alzheimer's disease
      Title: Neuronal pentraxin receptor in cerebrospinal fluid as a potential biomarker for neurodegenerative diseases.
    4. The purpose of the present study was to assess the toxic effect of taipoxin in SCLC-cell lines and to determine if toxicity correlates to NPR and NP1 and NP2 expression levels.
      Title: Specific sensitivity of small cell lung cancer cell lines to the snake venom toxin taipoxin.
    5. non-AUG translation initiation site. Comparison of rat determined N-terminal amino acid sequence with cDNA sequence indicates that a CUG codon is used as an initiator codon and codes for a methionine. The CTG is present in cDNAs of mouse, rat, and human.
      Title: Neuronal pentraxin receptor, a novel putative integral membrane pentraxin that interacts with neuronal pentraxin 1 and 2 and taipoxin-associated calcium-binding protein 49.
    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
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    neuronal pentraxin receptor

    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.

    mRNA and Protein(s)

    1. NM_014293.4 → NP_055108.2  neuronal pentraxin receptor precursor

      See identical proteins and their annotated locations for NP_055108.2

      Status: REVIEWED

      Source sequence(s)
      AL008583, AL161974, CA423268, DA321562, DR007138
      Consensus CDS
      CCDS33647.1
      UniProtKB/Swiss-Prot
      O95502
      UniProtKB/TrEMBL
      A0A1X7SBT7
      Related
      ENSP00000327545.3, ENST00000333039.4
      Conserved Domains (1) summary
      smart00159
      Location:288 → 494
      PTX; Pentraxin / C-reactive protein / pentaxin family

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      38818452..38844028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      39288799..39314406 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_058178.1: Suppressed sequence

      Description
      NM_058178.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95502.2 GenPept UniProtKB/Swiss-Prot:O95502

    Gene LinkOut

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

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