NRXN1

Also known as Hs.22998, PTHSL2, SCZD17, neurexin 1

Neurexin-1-alpha is a protein that in humans is encoded by the NRXN1 gene.

Gene data

NRXN1

Name: neurexin 1
Type: protein-coding
Position: 49,918,503–51,225,575 (−)
Aliases: Hs.22998, PTHSL2, SCZD17
Ensembl: ENSG00000179915
RefSeq RNA: NM_001135659.3, NM_001320156.4, NM_001320157.4, NM_001330077.2, NM_001330078.2
RefSeq protein: NP_001129131.1, NP_001307085.1, NP_001307086.1, NP_001317006.1, NP_001317007.1

This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016].

Pathways

Cell adhesion molecules - Homo sapiens (human)Neuronal System Neuronal System Extracellular matrix organization Non-integrin membrane-ECM interactions Neurexins and neuroligins Neurexins and neuroligins Protein-protein interactions at synapses Protein-protein interactions at synapses Disruption of postsynaptic signaling by CNV

via MyGene.info

Gene · Ensembl

neurexin 1

Symbol: NRXN1
Biotype: Protein coding
Organism: Homo sapiens
Location: 2:49,918,503-51,225,575
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene
Image: Protein NRXN1 PDB 1c4r.png

Show 7 more facts

HomoloGene ID: 21005
exact match: identifiers.org/ncbigene/9378
found in taxon: Homo sapiens
genomic end: 51259674
genomic start: 49918503
chromosome: human chromosome 2
cytogenetic location: 2p16.3

Sources (4)

via Wikidata · CC0

~3 min read

Encyclopedic overview

6 sections

Contents

Function
Genomics
Interactions
References
Further reading
External links

Neurexin-1-alpha is a protein that in humans is encoded by the NRXN1 gene.

Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. They are encoded by several unlinked genes of which two, NRXN1 and NRXN3, are among the largest known human genes. Three of the genes (NRXN1-3) utilize two alternate promoters and include numerous alternatively spliced exons to generate thousands of distinct mRNA transcripts and protein isoforms. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms; a much smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins.

Excerpted from Wikipedia’s “NRXN1” article, available under the CC BY-SA 4.0 licence.