人 WHSC1 (NM_007331) cDNA克隆

基本信息

Accession: NM_007331
基因名称: WHSC1
基因别名: WHS; NSD2; TRX5; MMSET; REIIBP
基因描述: Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 8, mRNA.
种属: Human
CDS区长度: 1890 (查看编码区序列)
翻译后氨基酸长度: 629 (查看氨基酸序列)
Transcript Variant: This variant (8) contains an additional fragment beyond the 3' end of exon 11, and lacks exons 12-25, as compared to variant 1. This fragment shifts the reading frame and introduces an immediate translation termination. This variant encodes isoform 4, which is much shorter and has a different C-terminus from isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G163967 人 WHSC1 (NM_007331) 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 WHSC1 (NM_133330) cDNA克隆 transcript variant 1
人 WHSC1 (NM_001042424) cDNA克隆 transcript variant 10
人 WHSC1 (NM_133331) cDNA克隆 transcript variant 2
人 WHSC1 (NM_133335) cDNA克隆 transcript variant 3
人 WHSC1 (NM_133334) cDNA克隆 transcript variant 7
人 WHSC1 (NM_007331) cDNA克隆 transcript variant 8

基因简介

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]

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