人 HPS5 (NM_181508) cDNA克隆

基本信息

Accession: NM_181508
基因名称: HPS5
基因别名: AIBP63
基因描述: Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 3, mRNA.
种属: Human
CDS区长度: 3048 (查看编码区序列)
翻译后氨基酸长度: 1015 (查看氨基酸序列)
Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame segment of the coding region, compared to variant 1. These differences cause translation initiation at a downstream ATG and an isoform (b) with a shorter N-terminus compared to isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G118287 人 HPS5 (NM_181508) 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 HPS5 (NM_181507) cDNA克隆 transcript variant 1
人 HPS5 (NM_007216) cDNA克隆 transcript variant 2
人 HPS5 (NM_181508) cDNA克隆 transcript variant 3

基因简介

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

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