Target:WBSCR11
Fields:Basal transcription factors;cGMP-PKG signaling pathway
Gene Name:GTF2IRD1
Protein Name:General transcription factor II-I repeat domain-containing protein 1
Human Gene Id:9569
Human Swiss Prot No:Q9UHL9
Mouse Gene Id:57080
Mouse Swiss Prot No:Q9JI57
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.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:20000.. IF 1:50-200
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
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
Observed Band(KD):106kD
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],
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 t
Subcellular Location:Nucleus.
Expression:Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.