From Wikipedia, the free encyclopedia
GTF2I
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases GTF2I, BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6, general transcription factor IIi
External IDs OMIM: 601679; MGI: 1202722; HomoloGene: 7748; GeneCards: GTF2I; OMA: GTF2I - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC) Chr 7: 74.65 – 74.76 Mb Chr 5: 134.24 – 134.31 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

General transcription factor II-I is a protein that in humans is encoded by the GTF2I gene. [5] [6] [7]

Function

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.

Interactions

GTF2I has been shown to interact with:

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000263001Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060261Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Grueneberg DA, Henry RW, Brauer A, Novina CD, Cheriyath V, Roy AL, Gilman M (Oct 1997). "A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I". Genes & Development. 11 (19): 2482–93. doi: 10.1101/gad.11.19.2482. PMC  316568. PMID  9334314.
  6. ^ a b Yang W, Desiderio S (Jan 1997). "BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement". Proceedings of the National Academy of Sciences of the United States of America. 94 (2): 604–9. Bibcode: 1997PNAS...94..604Y. doi: 10.1073/pnas.94.2.604. PMC  19560. PMID  9012831.
  7. ^ a b "Entrez Gene: GTF2I general transcription factor II, i".
  8. ^ Roy AL (June 2017). "Pathophysiology of TFII-I: Old Guard Wearing New Hats". Trends in Molecular Medicine. 23 (6): 501–511. doi: 10.1016/j.molmed.2017.04.002. PMC  5504908. PMID  28461154.
  9. ^ Sacristán C, Tussié-Luna MI, Logan SM, Roy AL (Feb 2004). "Mechanism of Bruton's tyrosine kinase-mediated recruitment and regulation of TFII-I". The Journal of Biological Chemistry. 279 (8): 7147–58. doi: 10.1074/jbc.M303724200. PMID  14623887.
  10. ^ Novina CD, Kumar S, Bajpai U, Cheriyath V, Zhang K, Pillai S, Wortis HH, Roy AL (Jul 1999). "Regulation of nuclear localization and transcriptional activity of TFII-I by Bruton's tyrosine kinase". Molecular and Cellular Biology. 19 (7): 5014–24. doi: 10.1128/mcb.19.7.5014. PMC  84330. PMID  10373551.
  11. ^ a b Wen YD, Cress WD, Roy AL, Seto E (Jan 2003). "Histone deacetylase 3 binds to and regulates the multifunctional transcription factor TFII-I". The Journal of Biological Chemistry. 278 (3): 1841–7. doi: 10.1074/jbc.M206528200. PMID  12393887.
  12. ^ Tussié-Luna MI, Bayarsaihan D, Seto E, Ruddle FH, Roy AL (Oct 2002). "Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta". Proceedings of the National Academy of Sciences of the United States of America. 99 (20): 12807–12. Bibcode: 2002PNAS...9912807T. doi: 10.1073/pnas.192464499. PMC  130541. PMID  12239342.
  13. ^ Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes". The Journal of Biological Chemistry. 278 (9): 7234–9. doi: 10.1074/jbc.M208992200. PMID  12493763.
  14. ^ Kim DW, Cochran BH (Feb 2000). "Extracellular signal-regulated kinase binds to TFII-I and regulates its activation of the c-fos promoter". Molecular and Cellular Biology. 20 (4): 1140–8. doi: 10.1128/mcb.20.4.1140-1148.2000. PMC  85232. PMID  10648599.
  15. ^ Roy AL, Carruthers C, Gutjahr T, Roeder RG (Sep 1993). "Direct role for Myc in transcription initiation mediated by interactions with TFII-I". Nature. 365 (6444): 359–61. Bibcode: 1993Natur.365..359R. doi: 10.1038/365359a0. PMID  8377829. S2CID  4354157.
  16. ^ Casteel DE, Zhuang S, Gudi T, Tang J, Vuica M, Desiderio S, Pilz RB (Aug 2002). "cGMP-dependent protein kinase I beta physically and functionally interacts with the transcriptional regulator TFII-I". The Journal of Biological Chemistry. 277 (35): 32003–14. doi: 10.1074/jbc.M112332200. PMID  12082086.
  17. ^ Kim DW, Cheriyath V, Roy AL, Cochran BH (Jun 1998). "TFII-I enhances activation of the c-fos promoter through interactions with upstream elements". Molecular and Cellular Biology. 18 (6): 3310–20. doi: 10.1128/mcb.18.6.3310. PMC  108912. PMID  9584171.
  18. ^ Roy AL, Du H, Gregor PD, Novina CD, Martinez E, Roeder RG (Dec 1997). "Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1". The EMBO Journal. 16 (23): 7091–104. doi: 10.1093/emboj/16.23.7091. PMC  1170311. PMID  9384587.
  19. ^ Roy AL, Meisterernst M, Pognonec P, Roeder RG (Nov 1991). "Cooperative interaction of an initiator-binding transcription initiation factor and the helix-loop-helix activator USF". Nature. 354 (6350): 245–8. Bibcode: 1991Natur.354..245R. doi: 10.1038/354245a0. PMID  1961251. S2CID  4260885.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

From Wikipedia, the free encyclopedia
GTF2I
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases GTF2I, BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6, general transcription factor IIi
External IDs OMIM: 601679; MGI: 1202722; HomoloGene: 7748; GeneCards: GTF2I; OMA: GTF2I - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC) Chr 7: 74.65 – 74.76 Mb Chr 5: 134.24 – 134.31 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

General transcription factor II-I is a protein that in humans is encoded by the GTF2I gene. [5] [6] [7]

Function

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.

Interactions

GTF2I has been shown to interact with:

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000263001Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000060261Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Grueneberg DA, Henry RW, Brauer A, Novina CD, Cheriyath V, Roy AL, Gilman M (Oct 1997). "A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I". Genes & Development. 11 (19): 2482–93. doi: 10.1101/gad.11.19.2482. PMC  316568. PMID  9334314.
  6. ^ a b Yang W, Desiderio S (Jan 1997). "BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement". Proceedings of the National Academy of Sciences of the United States of America. 94 (2): 604–9. Bibcode: 1997PNAS...94..604Y. doi: 10.1073/pnas.94.2.604. PMC  19560. PMID  9012831.
  7. ^ a b "Entrez Gene: GTF2I general transcription factor II, i".
  8. ^ Roy AL (June 2017). "Pathophysiology of TFII-I: Old Guard Wearing New Hats". Trends in Molecular Medicine. 23 (6): 501–511. doi: 10.1016/j.molmed.2017.04.002. PMC  5504908. PMID  28461154.
  9. ^ Sacristán C, Tussié-Luna MI, Logan SM, Roy AL (Feb 2004). "Mechanism of Bruton's tyrosine kinase-mediated recruitment and regulation of TFII-I". The Journal of Biological Chemistry. 279 (8): 7147–58. doi: 10.1074/jbc.M303724200. PMID  14623887.
  10. ^ Novina CD, Kumar S, Bajpai U, Cheriyath V, Zhang K, Pillai S, Wortis HH, Roy AL (Jul 1999). "Regulation of nuclear localization and transcriptional activity of TFII-I by Bruton's tyrosine kinase". Molecular and Cellular Biology. 19 (7): 5014–24. doi: 10.1128/mcb.19.7.5014. PMC  84330. PMID  10373551.
  11. ^ a b Wen YD, Cress WD, Roy AL, Seto E (Jan 2003). "Histone deacetylase 3 binds to and regulates the multifunctional transcription factor TFII-I". The Journal of Biological Chemistry. 278 (3): 1841–7. doi: 10.1074/jbc.M206528200. PMID  12393887.
  12. ^ Tussié-Luna MI, Bayarsaihan D, Seto E, Ruddle FH, Roy AL (Oct 2002). "Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta". Proceedings of the National Academy of Sciences of the United States of America. 99 (20): 12807–12. Bibcode: 2002PNAS...9912807T. doi: 10.1073/pnas.192464499. PMC  130541. PMID  12239342.
  13. ^ Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes". The Journal of Biological Chemistry. 278 (9): 7234–9. doi: 10.1074/jbc.M208992200. PMID  12493763.
  14. ^ Kim DW, Cochran BH (Feb 2000). "Extracellular signal-regulated kinase binds to TFII-I and regulates its activation of the c-fos promoter". Molecular and Cellular Biology. 20 (4): 1140–8. doi: 10.1128/mcb.20.4.1140-1148.2000. PMC  85232. PMID  10648599.
  15. ^ Roy AL, Carruthers C, Gutjahr T, Roeder RG (Sep 1993). "Direct role for Myc in transcription initiation mediated by interactions with TFII-I". Nature. 365 (6444): 359–61. Bibcode: 1993Natur.365..359R. doi: 10.1038/365359a0. PMID  8377829. S2CID  4354157.
  16. ^ Casteel DE, Zhuang S, Gudi T, Tang J, Vuica M, Desiderio S, Pilz RB (Aug 2002). "cGMP-dependent protein kinase I beta physically and functionally interacts with the transcriptional regulator TFII-I". The Journal of Biological Chemistry. 277 (35): 32003–14. doi: 10.1074/jbc.M112332200. PMID  12082086.
  17. ^ Kim DW, Cheriyath V, Roy AL, Cochran BH (Jun 1998). "TFII-I enhances activation of the c-fos promoter through interactions with upstream elements". Molecular and Cellular Biology. 18 (6): 3310–20. doi: 10.1128/mcb.18.6.3310. PMC  108912. PMID  9584171.
  18. ^ Roy AL, Du H, Gregor PD, Novina CD, Martinez E, Roeder RG (Dec 1997). "Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1". The EMBO Journal. 16 (23): 7091–104. doi: 10.1093/emboj/16.23.7091. PMC  1170311. PMID  9384587.
  19. ^ Roy AL, Meisterernst M, Pognonec P, Roeder RG (Nov 1991). "Cooperative interaction of an initiator-binding transcription initiation factor and the helix-loop-helix activator USF". Nature. 354 (6350): 245–8. Bibcode: 1991Natur.354..245R. doi: 10.1038/354245a0. PMID  1961251. S2CID  4260885.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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