人 NEDD4L (NM_001144969) cDNA克隆

Accession: NM_001144969
基因名称: NEDD4L
基因别名: RSP5; NEDD4-2; NEDD4.2; hNEDD4-2
基因描述: Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase (NEDD4L), transcript variant h, mRNA.
种属: Human
CDS区长度: 2844 (查看编码区序列)
翻译后氨基酸长度: 947 (查看氨基酸序列)
Transcript Variant: This variant (h) uses an alternate first exon and lacks a downstream in-frame exon, compared to variant j, which results in the use of a different start codon and a protein (isoform 5) with a shorter and distinct N-terminus, compared to isoform 1.
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G104528 人 NEDD4L (NM_001144969) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]