人 APPL2 (NM_018171) cDNA克隆

Accession: NM_018171
基因名称: APPL2
基因别名: DIP13B
基因描述: Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1995 (查看编码区序列)
翻译后氨基酸长度: 664 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes the predominant isoform (1).
产品编号 产品名称 载体 规格 价格
G112576 人 APPL2 (NM_018171) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]