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NPTXR neuronal pentraxin receptor [ Homo sapiens (human) ]

Gene ID: 23467, updated on 13-Mar-2020

Summary

Official Symbol
NPTXRprovided by HGNC
Official Full Name
neuronal pentraxin receptorprovided by HGNC
Primary source
HGNC:HGNC:7954
See related
Ensembl:ENSG00000221890 MIM:609474
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

Genomic context

See NPTXR in Genome Data Viewer
Location:
22q13.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (38818452..38844028, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39214456..39240017, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene GTP binding protein 1 Neighboring gene Sad1 and UNC84 domain containing 2 Neighboring gene dynein axonemal light chain 4 Neighboring gene chromobox 6 Neighboring gene uncharacterized LOC105373032

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of postsynaptic neurotransmitter receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
neuronal pentraxin receptor

NCBI Reference Sequences (RefSeq)

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_014293.4NP_055108.2  neuronal pentraxin receptor

    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
    Related
    ENSP00000327545.2, ENST00000333039.3
    Conserved Domains (1) summary
    smart00159
    Location:288494
    PTX; Pentraxin / C-reactive protein / pentaxin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    38818452..38844028 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.
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