Description
GTF2IRD1 Transcription Factor Activity Assay
The GTF2IRD1 Transcription Factor Activity Assay Kit is a cutting-edge tool designed for the accurate measurement of GTF2IRD1 transcription factor activity in various biological samples. This kit offers high sensitivity and specificity, allowing for precise and reliable results in a wide range of research applications.GTF2IRD1 is a key transcription factor that regulates gene expression and plays a critical role in various cellular processes. Dysregulation of GTF2IRD1 has been linked to developmental disorders, cognitive impairment, and neurodevelopmental conditions, making it a valuable target for studying these conditions and developing potential therapeutic interventions.
With the GTF2IRD1 Transcription Factor Activity Assay Kit, researchers can gain valuable insights into the function of GTF2IRD1 and its impact on gene expression, providing a deeper understanding of cellular pathways and potential treatment strategies.
| Product Name: | GTF2IRD1 Transcription Factor Activity Assay |
| Product Code: | TFAB00119 |
| Target: | GTF2IRD1 |
| Synonyms: | General transcription factor III, MusTRD1/BEN, Muscle TFII-I repeat domain-containing protein 1, Slow-muscle-fiber enhancer-binding protein, USE B1-binding protein, Williams-Beuren syndrome chromosomal region 11 protein, Williams-Beuren syndrome chromosomal region 12 protein |
| Reactivity: | Human, Mouse, Rat |
| Sample Types: | Nuclear or cell lysates |
The Assay Genie GTF2IRD1 transcription factor activity assay allows for the detection and qualitative analysis of endogenous levels of activated transcription factors in a variety of nuclear and cell lysates
Assay Genie ELISA kits are designed to significantly reduce experiment time and ensure sensitivity and flexibility for high-throughput screening.
| Assay Time: | 4.5 hours |
| Detection Method: | Colorimetric 450 nm |
| Size: | 12 x 8-Well Microstrips |
| Storage: | 4°C for 6 months |
| UniProt Protein Function: | GTF2IRD1: 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. GTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Belongs to the TFII-I family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:DNA-binding Chromosomal Location of Human Ortholog: 7q11.23 Cellular Component: cytoplasm; nucleoplasm; nucleus Molecular Function:DNA binding; RNA polymerase II transcription factor activity, enhancer binding; transcription factor activity Biological Process: multicellular organismal development; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription, DNA-dependent; transition between slow and fast fiber Disease: Williams-beuren Syndrome |
| NCBI Summary: | 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] |
| UniProt Code: | Q9UHL9 |
| NCBI GenInfo Identifier: | 21263630 |
| NCBI Gene ID: | 9569 |
| NCBI Accession: | Q9UHL9.1 |
| UniProt Secondary Accession: | Q9UHL9,O95444, Q6DSU6, Q75MX7, Q86UM3, Q8WVC4, Q9UHK8 Q9UI91, |
| UniProt Related Accession: | Q9UHL9 |
| Molecular Weight: | 107,979 Da |
| NCBI Full Name: | General transcription factor II-I repeat domain-containing protein 1 |
| NCBI Synonym Full Names: | GTF2I repeat domain containing 1 |
| NCBI Official Symbol: | GTF2IRD1 |
| NCBI Official Synonym Symbols: | BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1 |
| NCBI Protein Information: | general transcription factor II-I repeat domain-containing protein 1 |
| UniProt Protein Name: | General transcription factor II-I repeat domain-containing protein 1 |
| UniProt Synonym Protein Names: | General transcription factor III; MusTRD1/BEN; Muscle TFII-I repeat domain-containing protein 1; Slow-muscle-fiber enhancer-binding protein; USE B1-binding protein; Williams-Beuren syndrome chromosomal region 11 protein; Williams-Beuren syndrome chromosomal region 12 protein |
| Protein Family: | General transcription factor II-I repeat domain-containing protein |
| UniProt Gene Name: | GTF2IRD1 |
| UniProt Entry Name: | GT2D1_HUMAN |
