人 GTF2IRD1 (NM_001199207) cDNA克隆

基本信息

Accession: NM_001199207
基因名称: GTF2IRD1
基因别名: BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1
基因描述: Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 2931 (查看编码区序列)
翻译后氨基酸长度: 976 (查看氨基酸序列)
Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

订购信息

产品编号 产品名称 载体 规格 价格
G102615 人 GTF2IRD1 (NM_001199207) 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 GTF2IRD1 (NM_016328) cDNA克隆 transcript variant 1
人 GTF2IRD1 (NM_005685) cDNA克隆 transcript variant 2
人 GTF2IRD1 (NM_001199207) cDNA克隆 transcript variant 3

基因简介

The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

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