人 DTNBP1 (NM_001271667) cDNA克隆

基本信息

Accession: NM_001271667
基因名称: DTNBP1
基因别名: SDY; DBND; HPS7; My031; BLOC1S8
基因描述: Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 813 (查看编码区序列)
翻译后氨基酸长度: 270 (查看氨基酸序列)
Transcript Variant: This variant (3) contains an alternate splice site in the 5' coding region and is predicted to use a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus than isoform a. This variant and protein are described by Talbot et al. (PMID:21390302).

订购信息

产品编号 产品名称 载体 规格 价格
G114938 人 DTNBP1 (NM_001271667) 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 DTNBP1 (NM_032122) cDNA克隆 transcript variant 1
人 DTNBP1 (NM_183040) cDNA克隆 transcript variant 2
人 DTNBP1 (NM_183041) cDNA克隆 transcript variant 3
人 DTNBP1 (NM_001271667) cDNA克隆 transcript variant 3
人 DTNBP1 (NM_001271668) cDNA克隆 transcript variant 5
人 DTNBP1 (NM_001271669) cDNA克隆 transcript variant 6

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. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

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