NXPH1 neurexophilin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NXPH1provided by HGNC
Official Full Name: neurexophilin 1provided by HGNC
Primary source: HGNC:HGNC:20693
See related: Ensembl:ENSG00000122584 MIM:604639; AllianceGenome:HGNC:20693
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: NPH1; Nbla00697
Summary: This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008]
Expression: Biased expression in adrenal (RPKM 15.5) and brain (RPKM 12.8) See more
Orthologs: mouse all
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Genomic context

Location:: 7p21.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (8433609..8752961)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (8554700..8873809)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (8473239..8792591)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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-194-5p inhibits LPS-induced astrocytes activation by directly targeting neurexophilin 1.
Title: miR-194-5p inhibits LPS-induced astrocytes activation by directly targeting neurexophilin 1.
identification of SNPs within the IQCJ, NXPH1, PHF17 and MYB genes partly explaining the large interindividual variability observed in plasma triglyceride levels in response to an n-3 fatty acid supplementation
Title: Novel Genetic Loci Associated with the Plasma Triglyceride Response to an Omega-3 Fatty Acid Supplementation.
expression inversely correlated with N stage in pancreatic ductal adenocarcinoma
Title: The detection of tumor location and lymph node metastasis by aberrant NXPH1 and NXPH2 expressions in pancreatic ductal adenocarcinomas.
A genome-wide association study (GWAS) identified loci associated with the plasma triglyceride (TG) response to omega-3 fatty acid (FA) supplementation in IQCJ, NXPH1, PHF17 and MYB.
Title: Plasma Triglyceride Levels May Be Modulated by Gene Expression of IQCJ, NXPH1, PHF17 and MYB in Humans.
The role of NXPH1 in in paranoid schizophrenia development in Russians.
Title: [The Role of Neurotrophins and Neurexins Genes in the Risk of Paranoid Schizophrenia in Russians and Tatars].
Rs2349775 (NXPH1) and rs17837965 (CDC42) were associated with diarrhoea and constipation predominant irritable bowel syndrome, respectively, in two independent cohorts.
Title: Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome.
Data indicate that median methylation levels of BCAN, HOXD1, KCTD8, KLF11, NXPH1, POU4F1, SIM1, and TCF7L1 were >/=30% higher than in normal samples, representing potential biomarkers for tumor diagnosis.
Title: Genome-wide methylation screen in low-grade breast cancer identifies novel epigenetically altered genes as potential biomarkers for tumor diagnosis.
Data indicate taht candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified.
Title: Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
results demonstrate the presence and function of a regulated signaling axis in hematopoiesis centered on NRXN1alpha and its modulation by DAG1 and NXPH1
Title: Neurexophilin 1 suppresses the proliferation of hematopoietic progenitor cells.
Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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
A genome-wide association study identifies protein quantitative trait loci (pQTLs). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

NXPH1__6090 (e-PCR)
- UniSTS:463652

D7S1927 (e-PCR)
- UniSTS:42542

NXPH1 (e-PCR)
- UniSTS:503600

GDB:1318533 (e-PCR)
- UniSTS:76874

G66886 (e-PCR)
- UniSTS:166763

RH122413 (e-PCR)
- UniSTS:135283

D7S641 (e-PCR), detects polymorphism
- UniSTS:6278

GDB:1317448 (e-PCR)
- UniSTS:20388

G42094 (e-PCR)
- UniSTS:93140

SHGC-151106 (e-PCR)
- UniSTS:173273

A008B12 (e-PCR)
- UniSTS:46568

WI-22423 (e-PCR)
- UniSTS:80877

SHGC-152103 (e-PCR)
- UniSTS:177403

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in synaptic cleft	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neurexophilin-1

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.