人 ATP2C1 (NM_014382) cDNA克隆

基本信息

Accession: NM_014382
基因名称: ATP2C1
基因别名: HHD; BCPM; PMR1; SPCA1; hSPCA1; ATP2C1A
基因描述: Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 2760 (查看编码区序列)
翻译后氨基酸长度: 919 (查看氨基酸序列)
Transcript Variant: This variant (1) has an alternate 5' exon, lacks the 3' exon and contains an alternate 3' segment, as compared to variant 6. The resulting isoform (1a) has shorter and distinct N- and C-termini, as compared to isoform 2a. Variants 1 and 5 encode the same isoform 1a.

订购信息

产品编号 产品名称 载体 规格 价格
G104476 人 ATP2C1 (NM_014382) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 ATP2C1 (NM_014382) cDNA克隆 transcript variant 1
人 ATP2C1 (NM_001199184) cDNA克隆 transcript variant 10
人 ATP2C1 (NM_001199185) cDNA克隆 transcript variant 11
人 ATP2C1 (NM_001001487) cDNA克隆 transcript variant 2
人 ATP2C1 (NM_001001485) cDNA克隆 transcript variant 3
人 ATP2C1 (NM_001001486) cDNA克隆 transcript variant 4
人 ATP2C1 (NM_001199179) cDNA克隆 transcript variant 5
人 ATP2C1 (NM_001199180) cDNA克隆 transcript variant 6
人 ATP2C1 (NM_001199181) cDNA克隆 transcript variant 7
人 ATP2C1 (NM_001199182) cDNA克隆 transcript variant 8
人 ATP2C1 (NM_001199183) cDNA克隆 transcript variant 9

基因简介

The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

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