WBSCR11 Polyclonal Antibody
Product details
Background:
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],
Specifications
| Size | 50μL/100μL |
| Target | WBSCR11 |
| Reactivity | Human, Mouse, Rat |
| Applications | WB, IHC, IF, ELISA |
| MW(Calculated) | |
| MW(Observed) | 106kD |
| Host Species | Rabbit |
| Isotype | IgG |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | WB 1:500-1:2000; IHC 1:100-1:300; ELISA 1:20000; IF 1:50-200 / Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0 (Cat#WT1004) |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | 1 mg/ml |
| Clonality | Polyclonal |
| Clone Number | |
| Immunogen | The antiserum was produced against synthesized peptide derived from human GTF2IRD1. AA range:71-120 |
| Specificity | WBSCR11 Polyclonal Antibody detects endogenous levels of WBSCR11 protein. |
| Gene Name | GTF2IRD1 |
| Protein Name | General transcription factor II-I repeat domain-containing protein 1 |
| Other Name | 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 |
| Species | Human |
| Gene ID | 9569 |
| Uniprot | Q9UHL9, |
| Species.1 | Mouse |
| Gene ID.1 | 57080 |
| Uniprot.1 | Q9JI57 |
| Species.2 | |
| Gene ID.2 | |
| Uniprot.2 | |
| Cellular Localization | Nucleus. |
| Tissue Expression | Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested. |
| Signaling_pathway | |
| Research Areas | >>Basal transcription factors; / >>cGMP-PKG signaling pathway |
| Function | 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., |
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