产品名称
WBSCR11 Rabbit Polyclonal Antibody
别名
GTF2IRD1; CREAM1; GTF3; MUSTRD1; RBAP2; WBSCR11; WBSCR12; General transcription factor II-I repeat domain-containing protein 1; GTF2I repeat domain-containing protein 1; General transcription factor III; MusTRD1/BEN; Muscle TFII-I repeat do
蛋白名称
General transcription factor II-I repeat domain-containing protein 1
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=9569
Human Swissprot No.
Q9UHL9
Human Swissprot Link
http://www.uniprot.org/uniprotkb/Q9UHL9/entry
Mouse Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=57080
Mouse Swissprot No.
Q9JI57
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q9JI57
免疫原
The antiserum was produced against synthesized peptide derived from human GTF2IRD1. AA range:71-120
特异性
WBSCR11 Polyclonal Antibody detects endogenous levels of WBSCR11 protein.
稀释度
WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:20000.. IF 1:50-200
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.
信号通路
Basal transcription factors;
功能
developmental stage:Highly expressed in developing and regenerating muscles, at the time of myofiber diversification.,disease:Haploinsufficiency of GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS), a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.,domain:The N-terminal half may have an activating activity.,function:May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the TFII-I family.,similarity:Contains 5 GTF2I-like repeats.,subunit:Interacts with the retinoblastoma protein (RB1) via its C-terminus.,tissue specificity:Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.