Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase.
Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase.
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编码 Na,K-ATP 酶 γ 亚基的人类 FXYD2 基因的基因组结构。
DOI：
10.1006/bbrc.2000.3907
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发表时间：
2000
期刊：
影响因子：
--
通讯作者：
Arystarkhova,E
中科院分区：
文献类型：
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作者：
Sweadner,KJ;Wetzel,RK;Arystarkhova,E
虽然Na，K-γ酶的亚基只有66或68个氨基酸，但它的人类基因(FXYD2)全长9.2kb，有7个外显子，其中两个外显子交替剪接，编码不同的N-末端。存在两个候选启动子，它们具有转录因子Sp1、AP-1和AP-2的共同位点，与剪接变体的独立转录一致。多个EST支持已鉴定基因元件的转录能力。在FXYD2基因中，有两个紧密相隔的多聚腺苷信号，两者都被使用。在该基因中没有发现编码31个残基N末端延伸的第三个剪接变异体，也没有在人类肾脏Na，K-ATPase中发现预测的更大的蛋白质。FXYD2位于染色体11q23上，靠近致癌染色体易位的部位，并有多个重复元件。
Although the γ subunit of the Na,K-ATPase has only 66 or 68 amino acids, its human gene (FXYD2) was found to span 9.2 kb and have seven exons, including two alternatively spliced exons encoding different N-termini. Two candidate promoters with consensus sites for transcription factors Sp1, AP-1, and AP-2 are present, consistent with independent transcription of the splice variants. Multiple ESTs support the transcriptional competence of the identified gene elements. In the FXYD2 gene, there are two closely spaced polyadenylation signals, and both are used. A proposed third splice variant encoding a 31-residue N-terminal extension was not found in the gene, nor was the predicted larger protein found in human kidney Na,K-ATPase. Instead, evidence was found for the origin of the larger cDNA clone in homologous recombination with unrelated DNA from chromosome 2. FXYD2 is on chromosome 11q23 close to a site of tumorigenic chromosomal translocations, and has a number of repeat elements.