Format

Send to:

Choose Destination

NXPH1 neurexophilin 1 [ Homo sapiens (human) ]

Gene ID: 30010, updated on 1-Jun-2020

Summary

Official Symbol
NXPH1provided by HGNC
Official Full Name
neurexophilin 1provided by HGNC
Primary source
HGNC:HGNC:20693
See related
Ensembl:ENSG00000122584 MIM:604639
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

Genomic context

See NXPH1 in Genome Data Viewer
Location:
7p21.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (8433609..8752961)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (8473585..8792593)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375142 Neighboring gene islet cell autoantigen 1 Neighboring gene uncharacterized LOC100505938 Neighboring gene uncharacterized LOC105375144 Neighboring gene ribosomal protein L9 pseudogene 19 Neighboring gene VISTA enhancer hs799

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
NHGRI GWA Catalog
Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.
NHGRI GWA Catalog
Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 

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_152745.3NP_689958.1  neurexophilin-1 precursor

    See identical proteins and their annotated locations for NP_689958.1

    Status: REVIEWED

    Source sequence(s)
    AA575925, AB047362, AC004613, AC004861, BX107562
    Consensus CDS
    CCDS47540.1
    UniProtKB/Swiss-Prot
    P58417
    UniProtKB/TrEMBL
    Q3LID8
    Related
    ENSP00000384551.1, ENST00000405863.6
    Conserved Domains (1) summary
    pfam06312
    Location:66271
    Neurexophilin; Neurexophilin

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    8433609..8752961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center