“NRXN1”的意思、由来-开放百科全书

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

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).

Mutations of this gene that interrupt its expression have been associated with schizophrenia, autism, and intellectual disability ([https://www.ncbi.nlm.nih.gov/pubmed/22337556 NRXN1 mutations and brain disorders]).

Interactions

References

1. ^¹{{cite web | title = Entrez Gene: NRXN1 neurexin 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9378| accessdate = }}
2. ^{{cite journal |last=Comoletti |first=Davide |authorlink= |author2=Flynn Robyn |author3=Jennings Lori L |author4=Chubykin Alexander |author5=Matsumura Takehito |author6=Hasegawa Hana |author7=Südhof Thomas C |author8=Taylor Palmer |date=Dec 2003 |title=Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1beta |journal=J. Biol. Chem. |volume=278 |issue=50 |pages=50497–50505 |publisher= |location = United States| issn = 0021-9258| pmid = 14522992 |doi = 10.1074/jbc.M306803200 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}
3. ^{{cite journal |last=Ichtchenko |first=K |authorlink= |author2=Nguyen T |author3=Südhof T C |date=Feb 1996 |title=Structures, alternative splicing, and neurexin binding of multiple neuroligins |journal=J. Biol. Chem. |volume=271 |issue=5 |pages=2676–2682 |publisher= |location = UNITED STATES| issn = 0021-9258| pmid = 8576240 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1074/jbc.271.5.2676 }}

Further reading

{{cite journal |vauthors=Missler M, Südhof TC |title=Neurexins: three genes and 1001 products |journal=Trends Genet. |volume=14 |issue= 1 |pages= 20–26 |year= 1998 |pmid= 9448462 |doi= 10.1016/S0168-9525(97)01324-3 }}

{{cite journal | author=Nakajima D |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=10.1093/dnares/9.3.99 |name-list-format=vanc| author2=Okazaki N | author3=Yamakawa H | display-authors=3 | last4=Kikuno | first4=R | last5=Ohara | first5=O | last6=Nagase | first6=T }}

{{cite journal |vauthors=Ushkaryov YA, Petrenko AG, Geppert M, Südhof TC |title=Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin |journal=Science |volume=257 |issue= 5066 |pages= 50–56 |year= 1992 |pmid= 1621094 |doi=10.1126/science.1621094 |bibcode=1992Sci...257...50U }}

{{cite journal |vauthors=Ichtchenko K, Nguyen T, Südhof TC |title=Structures, alternative splicing, and neurexin binding of multiple neuroligins |journal=J. Biol. Chem. |volume=271 |issue= 5 |pages= 2676–2682 |year= 1996 |pmid= 8576240 |doi=10.1074/jbc.271.5.2676 }}

{{cite journal | author=Petrenko AG |title=Structure and evolution of neurexophilin |journal=J. Neurosci. |volume=16 |issue= 14 |pages= 4360–9 |year= 1996 |pmid= 8699246 |doi= 10.1523/JNEUROSCI.16-14-04360.1996|name-list-format=vanc| author2=Ullrich B | author3=Missler M | display-authors=3 | last4=Krasnoperov | first4=V | last5=Rosahl | first5=TW | last6=Südhof | first6=TC }}

{{cite journal |vauthors=Hata Y, Butz S, Südhof TC |title=CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins |journal=J. Neurosci. |volume=16 |issue= 8 |pages= 2488–94 |year= 1996 |pmid= 8786425 |doi= 10.1523/JNEUROSCI.16-08-02488.1996}}

{{cite journal | author=Perin MS |title=Mirror image motifs mediate the interaction of the COOH terminus of multiple synaptotagmins with the neurexins and calmodulin |journal=Biochemistry |volume=35 |issue= 43 |pages= 13808–13816 |year= 1996 |pmid= 8901523 |doi= 10.1021/bi960853x }}

{{cite journal |vauthors=Nguyen T, Südhof TC |title=Binding properties of neuroligin 1 and neurexin 1beta reveal function as heterophilic cell adhesion molecules |journal=J. Biol. Chem. |volume=272 |issue= 41 |pages= 26032–26039 |year= 1997 |pmid= 9325340 |doi=10.1074/jbc.272.41.26032 }}

{{cite journal | author=Nagase T |title=Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro |journal=DNA Res. |volume=5 |issue= 1 |pages= 31–39 |year= 1998 |pmid= 9628581 |doi=10.1093/dnares/5.1.31 |name-list-format=vanc| author2=Ishikawa K | author3=Miyajima N | display-authors=3 | last4=Tanaka | first4=A | last5=Kotani | first5=H | last6=Nomura | first6=N | last7=Ohara | first7=O }}

{{cite journal |vauthors=Missler M, Hammer RE, Südhof TC |title=Neurexophilin binding to alpha-neurexins. A single LNS domain functions as an independently folding ligand-binding unit |journal=J. Biol. Chem. |volume=273 |issue= 52 |pages= 34716–34723 |year= 1999 |pmid= 9856994 |doi=10.1074/jbc.273.52.34716 }}

{{cite journal | author=Kleiderlein JJ |title=CCG repeats in cDNAs from human brain |journal=Hum. Genet. |volume=103 |issue= 6 |pages= 666–673 |year= 1999 |pmid= 9921901 |doi=10.1007/s004390050889 |name-list-format=vanc| author2=Nisson PE | author3=Jessee J | display-authors=3 | last4=Li | first4=W.-B. | last5=Becker | first5=K. G. | last6=Derby | first6=Michael L. | last7=Ross | first7=Christopher A. | last8=Margolis | first8=R. L. }}

{{cite journal |vauthors=Biederer T, Südhof TC |title=Mints as adaptors. Direct binding to neurexins and recruitment of munc18 |journal=J. Biol. Chem. |volume=275 |issue= 51 |pages= 39803–39806 |year= 2001 |pmid= 11036064 |doi= 10.1074/jbc.C000656200 }}

{{cite journal |vauthors=Koroll M, Rathjen FG, Volkmer H |title=The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self-associating activity |journal=J. Biol. Chem. |volume=276 |issue= 14 |pages= 10646–10654 |year= 2001 |pmid= 11152476 |doi= 10.1074/jbc.M010647200 }}

{{cite journal |vauthors=Fukuda M, Mikoshiba K |title=Characterization of KIAA1427 protein as an atypical synaptotagmin (Syt XIII) |journal=Biochem. J. |volume=354 |issue= Pt 2 |pages= 249–57 |year= 2001 |pmid= 11171101 |doi=10.1042/0264-6021:3540249 | pmc=1221650 }}

{{cite journal |vauthors=Fukuda M, Mikoshiba K |title=Synaptotagmin-like protein 1-3: a novel family of C-terminal-type tandem C2 proteins |journal=Biochem. Biophys. Res. Commun. |volume=281 |issue= 5 |pages= 1226–1233 |year= 2001 |pmid= 11243866 |doi= 10.1006/bbrc.2001.4512 }}

{{cite journal | author=Rowen L |title=Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity |journal=Genomics |volume=79 |issue= 4 |pages= 587–597 |year= 2002 |pmid= 11944992 |doi= 10.1006/geno.2002.6734 |name-list-format=vanc| author2=Young J | author3=Birditt B | display-authors=3 | last4=Kaur | first4=Amardeep | last5=Madan | first5=Anup | last6=Philipps | first6=Dana L. | last7=Qin | first7=Shizhen | last8=Minx | first8=Patrick | last9=Wilson | first9=Richard K. }}

{{cite journal |vauthors=Tabuchi K, Südhof TC |title=Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing |journal=Genomics |volume=79 |issue= 6 |pages= 849–859 |year= 2002 |pmid= 12036300 |doi= 10.1006/geno.2002.6780 }}

{{cite journal |vauthors=Nakayama M, Kikuno R, Ohara O |title=Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs |journal=Genome Res. |volume=12 |issue= 11 |pages= 1773–1784 |year= 2003 |pmid= 12421765 |doi= 10.1101/gr.406902 | pmc=187542 }}