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