NRXN1

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Neurexin 1
Protein NRXN1 PDB 1c4r.png
PDB rendering based on 1c4r.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols NRXN1 ; Hs.22998; PTHSL2; SCZD17
External IDs OMIM600565 HomoloGene21005 GeneCards: NRXN1 Gene
RNA expression pattern
PBB GE NRXN1 209914 s at tn.png
PBB GE NRXN1 209915 s at tn.png
PBB GE NRXN1 216096 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9378 18189
Ensembl ENSG00000179915 ENSMUSG00000024109
UniProt P58400 Q9CS84
RefSeq (mRNA) NM_001135659 NM_020252
RefSeq (protein) NP_001129131 NP_064648
Location (UCSC) Chr 2:
50.15 – 51.26 Mb
Chr 17:
90.03 – 91.09 Mb
PubMed search [1] [2]

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

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.[1]

Genomics[edit]

The gene is found in a single copy on the short arm of chromosome 2 (2p16.3). The gene is 1,112,187 bases in length, is located on the Crick (minus) strand and encodes a protein of 1,477 amino acids (molecular weight 161.883 kDa).

Mutation of this gene that interrupt its expression have been associated with Schizophrenia, autism, and intellectual disability (NRXN1 mutations and brain disorders).

Interactions[edit]

NRXN1 has been shown to interact with NLGN1.[2][3]

References[edit]

  1. ^ a b "Entrez Gene: NRXN1 neurexin 1". 
  2. ^ Comoletti, Davide; Flynn Robyn; Jennings Lori L; Chubykin Alexander; Matsumura Takehito; Hasegawa Hana; Südhof Thomas C; Taylor Palmer (Dec 2003). "Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1beta". J. Biol. Chem. (United States) 278 (50): 50497–50505. doi:10.1074/jbc.M306803200. ISSN 0021-9258. PMID 14522992. 
  3. ^ Ichtchenko, K; Nguyen T; Südhof T C (Feb 1996). "Structures, alternative splicing, and neurexin binding of multiple neuroligins". J. Biol. Chem. (UNITED STATES) 271 (5): 2676–2682. doi:10.1074/jbc.271.5.2676. ISSN 0021-9258. PMID 8576240. 

Further reading[edit]