Recombinant Human GTF2IRD1, His-tagged

• Cat.No.: GTF2IRD1-13602H
• Product Overview: Recombinant Human GTF2IRD1 protein, fused to His-tag, was expressed in E.coli and purified by Ni-sepharose.

Specification

• 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.
• Source: E.coli
• Species: Human
• Tag: His
• Protein length: 610-959a.a.
• Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
• Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 300mM Imidazole and 0.7% Sarcosyl, 15%glycerol.

Gene Information

• Gene Name: GTF2IRD1 GTF2I repeat domain containing 1 [ Homo sapiens ]
• Official Symbol: GTF2IRD1
• Synonyms: GTF2IRD1; GTF2I repeat domain containing 1; GTF2I repeat domain containing 1 , WBSCR11; general transcription factor II-I repeat domain-containing protein 1; BEN; binding factor for early enhancer; Cream1; GTF3; MusTRD1; RBAP2; WBSCR12; USE B1-binding protein; general transcription factor 3; general transcription factor III; slow-muscle-fiber enhancer-binding protein; Williams-Beuren syndrome chromosome region 11; williams-Beuren syndrome chromosomal region 12 protein; muscle TFII-I repeat domain-containing protein 1 alpha 1; WBS; CREAM1; MUSTRD1; WBSCR11; hMusTRD1alpha1
• Gene ID: 9569
• mRNA Refseq: NM_001199207
• Protein Refseq: NP_001186136
• MIM: 604318
• UniProt ID: Q9UHL9
• Chromosome Location: 7q11.23
• Pathway: Basal transcription factors, organism-specific biosystem; Basal transcription factors, conserved biosystem; Herpes simplex infection, organism-specific biosystem; Herpes simplex infection, conserved biosystem
• Function: DNA binding; sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; sequence-specific distal enhancer binding RNA polymerase II transcription factor activity