人 ATL1 (NM_001127713) cDNA克隆

Accession: NM_001127713
基因名称: ATL1
基因别名: FSP1; GBP3; SPG3; HSN1D; SPG3A; AD-FSP; atlastin1
基因描述: Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1662 (查看编码区序列)
翻译后氨基酸长度: 553 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks an alternate in-frame exon and differs in the 5' UTR compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode isoform b.
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G113614 人 ATL1 (NM_001127713) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]