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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. Belongs to the TFII-I family. Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: DNA-binding |
| Chromosomal Location of human Ortholog: 7q11.23 |
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Cellular Component:
cytosol; nucleoplasm; nucleus
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Molecular Function:
DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription repressor activity, RNA polymerase II-specific; protein binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding
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Biological Process:
negative regulation of transcription by RNA polymerase II; regulation of DNA-templated transcription; transcription by RNA polymerase II; transition between slow and fast fiber
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Disease: Williams-beuren Syndrome
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Reference #:
Q9UHL9
(UniProtKB)
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Alt. Names/Synonyms: BEN; binding factor for early enhancer; CREAM1; general transcription factor 3; General transcription factor II-I repeat domain-containing protein 1; General transcription factor III; GT2D1; GTF2I repeat domain containing 1; GTF2I repeat domain-containing 1; GTF2I repeat domain-containing protein 1; GTF2IRD1; GTF3; hMusTRD1alpha1; Muscle TFII-I repeat domain-containing protein 1; muscle TFII-I repeat domain-containing protein 1 alpha 1; MUSTRD1; MusTRD1/BEN; RBAP2; Slow-muscle-fiber enhancer-binding protein; USE B1-binding protein; WBS; WBSCR11; WBSCR12; Williams-Beuren syndrome chromosomal region 11 protein; Williams-Beuren syndrome chromosomal region 12 protein; Williams-Beuren syndrome chromosome region 11
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Gene Symbols: GTF2IRD1
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Molecular weight:
106,057 Da
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Basal Isoelectric point:
6.45
Predict pI for various phosphorylation states
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