General transcription factor II-I is a protein that in humans is encoded by the GTF2I gene. [5] [6] [7]
General transcription factor II-I is a protein that in humans is encoded by the GTF2I gene. [5] [6] [7]
This gene encodes a multifunctional phosphoprotein, TFII-I, with roles in transcription and signal transduction. Haploinsuffiency (deletion of one copy) of the GTF2I gene is noted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. It is duplicated in the 7q11.23 duplication syndrome. [8] The exon(s) encoding 5' UTR has not been fully defined, but this gene is known to contain at least 34 exons, and its alternative splicing generates 4 transcript variants in humans. [7] A single gain-of-function point mutation in GTF2I is also found in certain Thymomas. Single nucleotide polymorphism (SNP) in GTF2I is correlated to autoimmune disorders.
GTF2I has been shown to interact with:
Transcription factor Sp1, also known as specificity protein 1* is a protein that in humans is encoded by the SP1 gene.
Histone deacetylase 1 (HDAC1) is an enzyme that in humans is encoded by the HDAC1 gene.
Histone deacetylase 2 (HDAC2) is an enzyme that in humans is encoded by the HDAC2 gene. It belongs to the histone deacetylase class of enzymes responsible for the removal of acetyl groups from lysine residues at the N-terminal region of the core histones. As such, it plays an important role in gene expression by facilitating the formation of transcription repressor complexes and for this reason is often considered an important target for cancer therapy.
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Histone deacetylase 4, also known as HDAC4, is a protein that in humans is encoded by the HDAC4 gene.
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Upstream stimulatory factor 1 is a protein that in humans is encoded by the USF1 gene.
Recombination signal binding protein for immunoglobulin kappa J region is a protein that in humans is encoded by the RBPJ gene.
Histone deacetylase 5 is an enzyme that in humans is encoded by the HDAC5 gene.
Myocyte-specific enhancer factor 2D is a protein that in humans is encoded by the MEF2D gene.
Alpha-globin transcription factor CP2 is a protein that in humans is encoded by the TFCP2 gene.
Sin3A-associated protein, 30kDa, also known as SAP30, is a protein which in humans is encoded by the SAP30 gene.
General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene.
General transcription factor 3C polypeptide 1 is a protein that in humans is encoded by the GTF3C1 gene.
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General transcription factor IIE subunit 2 (GTF2E2), also known as transcription initiation factor IIE subunit beta (TFIIE-beta), is a protein that in humans is encoded by the GTF2E2 gene.
General transcription factor IIE subunit 1 (GTF2E1), also known as transcription initiation factor IIE subunit alpha (TFIIE-alpha), is a protein that in humans is encoded by the GTF2E1 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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