菜单 基因医生

该基因产物最初被鉴定为与接触素-PTPRZ1复合物相关的190kD蛋白1384氨基酸蛋白质,也被指定为p190或caspr的“接触蛋白相关蛋白”,包括一个胞外结构域和几个假定的蛋白质-蛋白质相互作用结构域、一个假定的跨膜结构域和一个74氨基酸胞质结构域。Northern杂交分析表明,该基因主要以6.2kb的转录本形式在大脑中转录,在其他几个组织中表达较弱其胞外域的结构与Nexxin相似,该蛋白可能是接触蛋白的信号亚单位,使神经元内细胞信号通路的募集和激活。[由RefSeq提供,2009年1月]
The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]

基因名:CNTNAP1
别名:CHN3,P190,CASPR,NRXN4,CNTNAP
基因ID:8506
Chromosome:
(GRCh37)
17 Start: 40834632 End: 40852011 Strand: 
信号通路:  
CNTNAP1 基因突变与药物