Rabbit anti-Human GTF2IRD1 Polyclonal Antibody | anti-GTF2IRD1 antibody

GTF2IRD1, NT (GTF2IRD1, CREAM1, GTF3, MUSTRD1, RBAP2, WBSCR11, WBSCR12, General transcription factor II-I repeat domain-containing protein 1, General transcription factor III, MusTRD1/BEN, Muscle TFII-I repeat domain-containing protein 1, Slow-muscle-fibe

Cat. Num. AAA6304911

• Gene Names: GTF2IRD1; BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: GTF2IRD1; Polyclonal Antibody; NT (GTF2IRD1; CREAM1; GTF3; MUSTRD1; RBAP2; WBSCR11; WBSCR12; General transcription factor II-I repeat domain-containing protein 1; General transcription factor III; MusTRD1/BEN; Muscle TFII-I repeat domain-containing protein 1; Slow-muscle-fibe; Slow-muscle-fiber enhancer-binding protein; USE B1-binding protein; Williams-Beuren syndrome chromosomal region 11 protein; Williams-Beuren syndrome chromosomal region 12 protein; anti-GTF2IRD1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Allophycocyanin (APC).
• Sequence Length: 944

• Applicable Applications for anti-GTF2IRD1 antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: GTF2IRD1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 78-108 amino acids from the N-terminal region of human GTF2IRD1.
• Conjugate: APC
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: APC conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(GTF2IRD1 Antibody (N-term) western blot analysis in Hela cell line lysates (35ug/lane).This demonstrates the GTF2IRD1 antibody detected the GTF2IRD1 protein (arrow).)

Related Product Information for anti-GTF2IRD1 antibody

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].

Product Categories/Family for anti-GTF2IRD1 antibody

Antibodies; Transcription Factors

References

Antonell, A., et al. J. Med. Genet. 47(5):312-320(2010). Palmer, S.J., et al. J. Biol. Chem. 285(7):4715-4724(2010). Trynka, G., et al. Gut 58(8):1078-1083(2009). Dai, L., et al. Am. J. Med. Genet. A 149A (3), 302-314 (2009): Lazebnik, M.B., et al. J. Biol. Chem. 283(17):11078-11082(2008).

NCBI and Uniprot Product Information

• NCBI GI #: 15011924
• NCBI GeneID: 9569
• NCBI Accession #: NP_005676.2
• NCBI GenBank Nucleotide #: NP_005676.2
• UniProt Accession #: Q9UHL9
• NCBI Official Full Name: general transcription factor II-I repeat domain-containing protein 1 isoform 2
• NCBI Official 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
• Protein Family: General transcription factor II-I repeat domain-containing protein
• UniProt Gene Name: GTF2IRD1
• UniProt Synonym Gene Names: CREAM1; GTF3; MUSTRD1; RBAP2; WBSCR11; WBSCR12; GTF2I repeat domain-containing protein 1
• UniProt Entry Name: GT2D1_HUMAN

NCBI Description

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 Description

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.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 7q11.23

Cellular Component: nucleoplasm; cytoplasm; nucleus

Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; DNA binding; transcription factor activity

Biological Process: regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; multicellular organismal development; transition between slow and fast fiber

Disease: Williams-beuren Syndrome