人 ACVRL1 (NM_001077401) cDNA克隆

基本信息

Accession: NM_001077401
基因名称: ACVRL1
基因别名: HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1
基因描述: Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1512 (查看编码区序列)
翻译后氨基酸长度: 503 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform. This variant contains an upstream in-frame start codon, but this upstream start codon is poorly conserved and would result in a protein that is 14 aa longer at the N-terminus and lacks a predicted signal peptide. The downstream translational start codon, as used in variant 1, is selected for this RefSeq based on its better conservation in mammalian species and on the presence of a predicted signal peptide in the protein N-terminus. Leaky scanning by ribosomes may allow translation initiation at the downstream start codon.

订购信息

产品编号 产品名称 载体 规格 价格
G116169 人 ACVRL1 (NM_001077401) 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 ACVRL1 (NM_000020) cDNA克隆 transcript variant 1
人 ACVRL1 (NM_001077401) cDNA克隆 transcript variant 2

基因简介

This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]

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