NPTX1 neuronal pentraxin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPTX1provided by HGNC
Official Full Name: neuronal pentraxin 1provided by HGNC
Primary source: HGNC:HGNC:7952
See related: Ensembl:ENSG00000171246 MIM:602367; AllianceGenome:HGNC:7952
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: NP1; SCA50
Summary: 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]
Expression: Biased expression in brain (RPKM 51.6) and adrenal (RPKM 2.1) See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (80466834..80476607, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (81368723..81378497, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (78440634..78450407, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-148a-3p regulates proliferation and apoptosis of idiopathic gingival fibroma by targeting NPTX1.
Title: miR-148a-3p regulates proliferation and apoptosis of idiopathic gingival fibroma by targeting NPTX1.
Proteomic analysis of the human hippocampus identifies neuronal pentraxin 1 (NPTX1) as synapto-axonal target in late-stage Parkinson's disease.
Title: Proteomic analysis of the human hippocampus identifies neuronal pentraxin 1 (NPTX1) as synapto-axonal target in late-stage Parkinson's disease.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Title: NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Tryptophan Metabolites Regulate Neuropentraxin 1 Expression in Endothelial Cells.
Title: Tryptophan Metabolites Regulate Neuropentraxin 1 Expression in Endothelial Cells.
Downregulation of NPTX1 induces cell cycle progression through Wnt/beta-catenin signaling in breast cancer.
Title: Downregulation of NPTX1 induces cell cycle progression through Wnt/β-catenin signaling in breast cancer.
MiR-4295 facilitates cell proliferation and metastasis in head and neck squamous cell carcinoma by targeting NPTX1.
Title: MiR-4295 facilitates cell proliferation and metastasis in head and neck squamous cell carcinoma by targeting NPTX1.
Findings indicate that neuronal pentraxin 1 (NPTX1) is a potential clinical therapeutic target.
Title: As a downstream target of the AKT pathway, NPTX1 inhibits proliferation and promotes apoptosis in hepatocellular carcinoma.
Relative to normal elderly, plasma NP1 was elevated in patients with mild cognitive impairment and elevated further in the subset that progressed to early-stage Alzheimer's disease.
Title: Neuronal pentraxin 1: A synaptic-derived plasma biomarker in Alzheimer's disease.
NPTX1 is down-regulated in colon cancer. In addition, NPTX1 inhibits the proliferation of colon cancer cells via decreasing cyclin A2 and CDK2.
Title: NPTX1 inhibits colon cancer cell proliferation through down-regulating cyclin A2 and CDK2 expression.
NPTX1 was significantly associated with bipolar disorder.
Title: Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

Associated conditions

Description	Tests
Spinocerebellar ataxia 50 MedGen: C5774272 OMIM: 620158 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in axonogenesis involved in innervation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to potassium ion	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial fragmentation involved in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial transport	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic density assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
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 synaptic cleft	IEA Inferred from Electronic Annotation more info
located_in transport vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neuronal pentraxin-1

Names: NP-I; neuronal pentraxin I

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.