NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008] See more...

Aliases for NPTX1 Gene

Aliases for NPTX1 Gene

  • Neuronal Pentraxin 1 2 3 5
  • Neuronal Pentraxin I 2 3 4
  • Neuronal Pentraxin-1 3 4
  • NP-I 3 4
  • NP1 3 4

External Ids for NPTX1 Gene

Previous GeneCards Identifiers for NPTX1 Gene

  • GC17M078086
  • GC17M081759
  • GC17M079003
  • GC17M079141
  • GC17M076055
  • GC17M078440
  • GC17M073881

Summaries for NPTX1 Gene

Entrez Gene Summary for NPTX1 Gene

  • NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008]

GeneCards Summary for NPTX1 Gene

NPTX1 (Neuronal Pentraxin 1) is a Protein Coding gene. Diseases associated with NPTX1 include Wallerian Degeneration and Anus Benign Neoplasm. An important paralog of this gene is NPTX2.

UniProtKB/Swiss-Prot Summary for NPTX1 Gene

  • May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses.

Gene Wiki entry for NPTX1 Gene

Additional gene information for NPTX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPTX1 Gene

Genomics for NPTX1 Gene

GeneHancer (GH) Regulatory Elements for NPTX1 Gene

Promoters and enhancers for NPTX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J080475 Promoter 1.4 EPDnew Ensembl 505.2 +1.0 1042 3.6 HNRNPK ZNF217 CTCF ZNF10 ZIC2 ZBTB10 ZNF423 GABPA ZBTB26 REST NPTX1 lnc-NPTX1-6 lnc-TMEM105-1
GH17J080742 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 14.7 -265.4 -265416 2.2 WT1 ZFHX2 KLF17 EGR1 KLF1 HNF4A ZNF184 EGR2 KLF14 HNF4G RPTOR NPTX1 RF00017-2584 piR-36366-008 lnc-TMEM105-1
GH17J080692 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 16 -218.5 -218538 6.8 NCOR1 ZIC2 KDM6A ZBTB26 ZKSCAN8 POLR2A MXD4 FOXP1 SMAD4 ZNF511 RPTOR NPTX1 piR-36366-008 lnc-ENDOV-3 lnc-TMEM105-1
GH17J080717 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.5 -244.4 -244357 11.2 ZSCAN5C FOS FOXA2 CTCF KLF9 CREB1 GATA3 NR3C1 FOSL2 ZBTB33 NPTX1 RPTOR piR-36366-008 RF00017-2584 lnc-TMEM105-1
GH17J080678 Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 16.2 -201.4 -201394 2 FOS ZIC2 CTCF RBM22 FOSL1 TAF1 RAD21 SMARCE1 JUN ATF3 NPTX1 RPTOR SGSH RNF213 lnc-ENDOV-3 piR-36366-008 lnc-TMEM105-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPTX1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPTX1

Top Transcription factor binding sites by QIAGEN in the NPTX1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Lmo2
  • NRSF form 1
  • NRSF form 2
  • Pax-5

Genomic Locations for NPTX1 Gene

Genomic Locations for NPTX1 Gene
chr17:80,466,833-80,477,843
(GRCh38/hg38)
Size:
11,011 bases
Orientation:
Minus strand
chr17:78,440,633-78,451,643
(GRCh37/hg19)
Size:
11,011 bases
Orientation:
Minus strand

Genomic View for NPTX1 Gene

Genes around NPTX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPTX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPTX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPTX1 Gene

Proteins for NPTX1 Gene

  • Protein details for NPTX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15818-NPTX1_HUMAN
    Recommended name:
    Neuronal pentraxin-1
    Protein Accession:
    Q15818
    Secondary Accessions:
    • B3KXH3
    • Q5FWE6

    Protein attributes for NPTX1 Gene

    Size:
    432 amino acids
    Molecular mass:
    47122 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Homooligomer or heterooligomer (probably pentamer) with neuronal pentraxin receptor (NPTXR).

neXtProt entry for NPTX1 Gene

Post-translational modifications for NPTX1 Gene

  • Glycosylation at Asn154 and Asn193
  • Modification sites at PhosphoSitePlus

Other Protein References for NPTX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NPTX1 Gene

Domains & Families for NPTX1 Gene

Gene Families for NPTX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins
  • Transporters

Protein Domains for NPTX1 Gene

Blocks:
  • Pentaxin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NPTX1 Gene

GenScript: Design optimal peptide antigens:
  • Neuronal pentraxin I (NPTX1_HUMAN)
genes like me logo Genes that share domains with NPTX1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NPTX1 Gene

Function for NPTX1 Gene

Molecular function for NPTX1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses.
GENATLAS Biochemistry:
pentaxin (pentraxin) 1,neuronal,mediating the uptake of synaptic material and presynaptic toxins

Phenotypes From GWAS Catalog for NPTX1 Gene

Gene Ontology (GO) - Molecular Function for NPTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NPTX1: view
genes like me logo Genes that share phenotypes with NPTX1: view

Animal Models for NPTX1 Gene

MGI Knock Outs for NPTX1:

Animal Model Products

CRISPR Products

miRNA for NPTX1 Gene

miRTarBase miRNAs that target NPTX1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPTX1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NPTX1 Gene

Localization for NPTX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPTX1 Gene

Cytoplasmic vesicle, secretory vesicle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPTX1 gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
peroxisome 0
lysosome 0

Gene Ontology (GO) - Cellular Components for NPTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0030133 transport vesicle IEA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0043005 neuron projection IBA 21873635
GO:0098978 glutamatergic synapse IMP 27986928
genes like me logo Genes that share ontologies with NPTX1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NPTX1 Gene

Pathways & Interactions for NPTX1 Gene

PathCards logo

SuperPathways for NPTX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NPTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 chemical synaptic transmission TAS 8884281
GO:0007417 central nervous system development TAS 8884281
GO:0060385 axonogenesis involved in innervation IBA 21873635
GO:0098962 regulation of postsynaptic neurotransmitter receptor activity IMP 27986928
genes like me logo Genes that share ontologies with NPTX1: view

No data available for Pathways by source and SIGNOR curated interactions for NPTX1 Gene

Drugs & Compounds for NPTX1 Gene

(6) Drugs for NPTX1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884

(3) Additional Compounds for NPTX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NPTX1: view

Transcripts for NPTX1 Gene

mRNA/cDNA for NPTX1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPTX1

Alternative Splicing Database (ASD) splice patterns (SP) for NPTX1 Gene

No ASD Table

Relevant External Links for NPTX1 Gene

GeneLoc Exon Structure for
NPTX1

Expression for NPTX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NPTX1 Gene

mRNA differential expression in normal tissues according to GTEx for NPTX1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x11.4), Brain - Cerebellum (x10.5), Brain - Frontal Cortex (BA9) (x5.3), Brain - Cortex (x5.2), and Brain - Anterior cingulate cortex (BA24) (x4.8).

Protein differential expression in normal tissues from HIPED for NPTX1 Gene

This gene is overexpressed in Brain (31.4), Cerebrospinal fluid (29.0), and Frontal cortex (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NPTX1 Gene



Protein tissue co-expression partners for NPTX1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPTX1

SOURCE GeneReport for Unigene cluster for NPTX1 Gene:

Hs.514556

Evidence on tissue expression from TISSUES for NPTX1 Gene

  • Nervous system(5)
  • Liver(3.1)
genes like me logo Genes that share expression patterns with NPTX1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPTX1 Gene

Orthologs for NPTX1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NPTX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NPTX1 31 30
  • 99.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NPTX1 31 30
  • 93.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NPTX1 31 30
  • 93.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nptx1 17 31 30
  • 91.67 (n)
rat
(Rattus norvegicus)
Mammalia Nptx1 30
  • 90.97 (n)
oppossum
(Monodelphis domestica)
Mammalia NPTX1 31
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPTX1 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPTX1 31 30
  • 83.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPTX1 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nptx1 30
  • 71.63 (n)
zebrafish
(Danio rerio)
Actinopterygii nptx1l 31 30
  • 74.61 (n)
OneToOne
Species where no ortholog for NPTX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NPTX1 Gene

ENSEMBL:
Gene Tree for NPTX1 (if available)
TreeFam:
Gene Tree for NPTX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NPTX1: view image

Paralogs for NPTX1 Gene

Paralogs for NPTX1 Gene

(3) SIMAP similar genes for NPTX1 Gene using alignment to 1 proteins:

  • NPTX1_HUMAN
genes like me logo Genes that share paralogs with NPTX1: view

Variants for NPTX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPTX1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
713396 Benign: not provided 80,476,138(-) C/T SYNONYMOUS_VARIANT
777255 Benign: not provided 80,471,768(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NPTX1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NPTX1 Gene

Variant ID Type Subtype PubMed ID
dgv539n67 CNV gain 20364138
esv24254 CNV gain+loss 19812545
nsv524479 CNV loss 19592680
nsv828126 CNV loss 20364138
nsv828127 CNV gain 20364138
nsv952385 CNV deletion 24416366

Variation tolerance for NPTX1 Gene

Residual Variation Intolerance Score: 40.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.17; 69.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPTX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPTX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPTX1 Gene

Disorders for NPTX1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NPTX1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wallerian degeneration
  • wallerian degeneration of the pyramidal tract
anus benign neoplasm
  • anal neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search NPTX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NPTX1

genes like me logo Genes that share disorders with NPTX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPTX1 Gene

Publications for NPTX1 Gene

  1. Mouse and human neuronal pentraxin 1 (NPTX1): conservation, genomic structure, and chromosomal localization. (PMID: 8884281) Omeis IA … Perin MS (Genomics 1996) 2 3 4 23 54
  2. Neuronal pentraxin 1 contributes to the neuronal damage evoked by amyloid-beta and is overexpressed in dystrophic neurites in Alzheimer's brain. (PMID: 17151277) Abad MA … Trullas R (The Journal of neuroscience : the official journal of the Society for Neuroscience 2006) 3 23 54
  3. Specific sensitivity of small cell lung cancer cell lines to the snake venom toxin taipoxin. (PMID: 16115696) Poulsen TT … Poulsen HS (Lung cancer (Amsterdam, Netherlands) 2005) 3 23 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for NPTX1 Gene

Sources for NPTX1 Gene