GTF2IRD1: Difference between revisions
Jump to navigation
Jump to search
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}})) |
imported>Rjwilmsi m (→top: Journal cites, Added 1 doi to a journal cite) |
||
| (One intermediate revision by one other user not shown) | |||
| Line 1: | Line 1: | ||
{{Infobox_gene}} | |||
{{ | '''General transcription factor II-I repeat domain-containing protein 1''' is a [[protein]] that in humans is encoded by the ''GTF2IRD1'' [[gene]].<ref name="pmid9774679">{{cite journal |vauthors=O'Mahoney JV, Guven KL, Lin J, Joya JE, Robinson CS, Wade RP, Hardeman EC | title = Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1 |journal=[[Molecular and Cellular Biology]] | volume = 18 | issue = 11 | pages = 6641–52 |date=November 1998 | pmid = 9774679 | pmc = 109249 | doi = 10.1128/mcb.18.11.6641}}</ref><ref name="pmid10198167">{{cite journal |vauthors=Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC | title = Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome | journal = Genomics | volume = 57 | issue = 2 | pages = 279–84 |date=May 1999 | pmid = 10198167 | pmc = | doi = 10.1006/geno.1999.5784 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9569| accessdate = }}</ref> | ||
}} | |||
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. --> | <!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. --> | ||
{{PBB_Summary | {{PBB_Summary | ||
| section_title = | | section_title = | ||
| summary_text = 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 is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.<ref name="entrez">{{cite web | title = Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1| url = | | summary_text = 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 is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.<ref name="entrez">{{cite web | title = Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9569| accessdate = }}</ref> | ||
}} | }} | ||
==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal | *{{cite journal |vauthors=Tassabehji M, Carette M, Wilmot C, etal |title=A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. |journal=Eur. J. Hum. Genet. |volume=7 |issue= 7 |pages= 737–47 |year= 2000 |pmid= 10573005 |doi= 10.1038/sj.ejhg.5200396 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Franke Y, Peoples RJ, Francke U |title=Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. |journal=Cytogenet. Cell Genet. |volume=86 |issue= 3-4 |pages= 296–304 |year= 2000 |pmid= 10575229 |doi=10.1159/000015322 }} | ||
*{{cite journal | *{{cite journal |vauthors=Yan X, Zhao X, Qian M, etal |title=Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I. |journal=Biochem. J. |volume=345 Pt 3 |issue= |pages= 749–57 |year= 2000 |pmid= 10642537 |doi=10.1042/0264-6021:3450749 | pmc=1220813 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Tussié-Luna MI, Bayarsaihan D, Ruddle FH, Roy AL |title=Repression of TFII-I-dependent transcription by nuclear exclusion. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 14 |pages= 7789–94 |year= 2001 |pmid= 11438732 |doi= 10.1073/pnas.141222298 | pmc=35420 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Tussie-Luna MI, Michel B, Hakre S, Roy AL |title=The SUMO ubiquitin-protein isopeptide ligase family member Miz1/PIASxbeta /Siz2 is a transcriptional cofactor for TFII-I. |journal=J. Biol. Chem. |volume=277 |issue= 45 |pages= 43185–93 |year= 2003 |pmid= 12193603 |doi= 10.1074/jbc.M207635200 }} | ||
*{{cite journal | *{{cite journal |vauthors=Tussié-Luna MI, Bayarsaihan D, Seto E, etal |title=Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 20 |pages= 12807–12 |year= 2002 |pmid= 12239342 |doi= 10.1073/pnas.192464499 | pmc=130541 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Vullhorst D, Buonanno A |title=Characterization of general transcription factor 3, a transcription factor involved in slow muscle-specific gene expression. |journal=J. Biol. Chem. |volume=278 |issue= 10 |pages= 8370–9 |year= 2003 |pmid= 12475981 |doi= 10.1074/jbc.M209361200 }} | ||
*{{cite journal | *{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }} | ||
*{{cite journal | *{{cite journal |vauthors=Hillier LW, Fulton RS, Fulton LA, etal |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }} | ||
*{{cite journal | *{{cite journal |vauthors=Polly P, Haddadi LM, Issa LL, etal |title=hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer. |journal=J. Biol. Chem. |volume=278 |issue= 38 |pages= 36603–10 |year= 2003 |pmid= 12857748 |doi= 10.1074/jbc.M212814200 }} | ||
*{{cite journal | *{{cite journal |vauthors=Hirota H, Matsuoka R, Chen XN, etal |title=Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. |journal=Genet. Med. |volume=5 |issue= 4 |pages= 311–21 |year= 2004 |pmid= 12865760 |doi= 10.1097/01.GIM.0000076975.10224.67 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Lehner B, Sanderson CM |title=A protein interaction framework for human mRNA degradation. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1315–23 |year= 2004 |pmid= 15231747 |doi= 10.1101/gr.2122004 | pmc=442147 }} | ||
*{{cite journal | *{{cite journal |vauthors=Beausoleil SA, Jedrychowski M, Schwartz D, etal |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130–5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 | pmc=514446 }} | ||
*{{cite journal | *{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }} | ||
*{{cite journal |vauthors=Grimsby S, Jaensson H, Dubrovska A, etal |title=Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity. |journal=FEBS Lett. |volume=577 |issue= 1-2 |pages= 93–100 |year= 2005 |pmid= 15527767 |doi= 10.1016/j.febslet.2004.09.069 }} | |||
*{{cite journal |vauthors=Jackson TA, Taylor HE, Sharma D, etal |title=Vascular endothelial growth factor receptor-2: counter-regulation by the transcription factors, TFII-I and TFII-IRD1. |journal=J. Biol. Chem. |volume=280 |issue= 33 |pages= 29856–63 |year= 2005 |pmid= 15941713 |doi= 10.1074/jbc.M500335200 }} | |||
*{{cite journal | *{{cite journal |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }} | ||
*{{cite journal | *{{cite journal |vauthors=Tassabehji M, Hammond P, Karmiloff-Smith A, etal |title=GTF2IRD1 in craniofacial development of humans and mice. |journal=Science |volume=310 |issue= 5751 |pages= 1184–7 |year= 2005 |pmid= 16293761 |doi= 10.1126/science.1116142 }} | ||
*{{cite journal | |||
*{{cite journal | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
{{PDB Gallery|geneid=9569}} | |||
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. --> | |||
{{PBB_Controls | |||
| update_page = yes | |||
| require_manual_inspection = no | |||
| update_protein_box = yes | |||
| update_summary = yes | |||
| update_citations = yes | |||
}} | |||
{{ | {{gene-7-stub}} | ||
Latest revision as of 16:20, 6 February 2018
| VALUE_ERROR (nil) | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Aliases | |||||||
| External IDs | GeneCards: [1] | ||||||
| Orthologs | |||||||
| Species | Human | Mouse | |||||
| Entrez |
|
| |||||
| Ensembl |
|
| |||||
| UniProt |
|
| |||||
| RefSeq (mRNA) |
|
| |||||
| RefSeq (protein) |
|
| |||||
| Location (UCSC) | n/a | n/a | |||||
| PubMed search | n/a | n/a | |||||
| Wikidata | |||||||
| |||||||
General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene.[1][2][3]
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 is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.[3]
References
- ↑ O'Mahoney JV, Guven KL, Lin J, Joya JE, Robinson CS, Wade RP, Hardeman EC (November 1998). "Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1". Molecular and Cellular Biology. 18 (11): 6641–52. doi:10.1128/mcb.18.11.6641. PMC 109249. PMID 9774679.
- ↑ Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC (May 1999). "Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome". Genomics. 57 (2): 279–84. doi:10.1006/geno.1999.5784. PMID 10198167.
- ↑ 3.0 3.1 "Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1".
Further reading
- Tassabehji M, Carette M, Wilmot C, et al. (2000). "A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome". Eur. J. Hum. Genet. 7 (7): 737–47. doi:10.1038/sj.ejhg.5200396. PMID 10573005.
- Franke Y, Peoples RJ, Francke U (2000). "Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23". Cytogenet. Cell Genet. 86 (3–4): 296–304. doi:10.1159/000015322. PMID 10575229.
- Yan X, Zhao X, Qian M, et al. (2000). "Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I". Biochem. J. 345 Pt 3: 749–57. doi:10.1042/0264-6021:3450749. PMC 1220813. PMID 10642537.
- Tussié-Luna MI, Bayarsaihan D, Ruddle FH, Roy AL (2001). "Repression of TFII-I-dependent transcription by nuclear exclusion". Proc. Natl. Acad. Sci. U.S.A. 98 (14): 7789–94. doi:10.1073/pnas.141222298. PMC 35420. PMID 11438732.
- Tussie-Luna MI, Michel B, Hakre S, Roy AL (2003). "The SUMO ubiquitin-protein isopeptide ligase family member Miz1/PIASxbeta /Siz2 is a transcriptional cofactor for TFII-I". J. Biol. Chem. 277 (45): 43185–93. doi:10.1074/jbc.M207635200. PMID 12193603.
- Tussié-Luna MI, Bayarsaihan D, Seto E, et al. (2002). "Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta". Proc. Natl. Acad. Sci. U.S.A. 99 (20): 12807–12. doi:10.1073/pnas.192464499. PMC 130541. PMID 12239342.
- Vullhorst D, Buonanno A (2003). "Characterization of general transcription factor 3, a transcription factor involved in slow muscle-specific gene expression". J. Biol. Chem. 278 (10): 8370–9. doi:10.1074/jbc.M209361200. PMID 12475981.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
- Polly P, Haddadi LM, Issa LL, et al. (2003). "hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer". J. Biol. Chem. 278 (38): 36603–10. doi:10.1074/jbc.M212814200. PMID 12857748.
- Hirota H, Matsuoka R, Chen XN, et al. (2004). "Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23". Genet. Med. 5 (4): 311–21. doi:10.1097/01.GIM.0000076975.10224.67. PMID 12865760.
- Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC 442147. PMID 15231747.
- Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Grimsby S, Jaensson H, Dubrovska A, et al. (2005). "Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity". FEBS Lett. 577 (1–2): 93–100. doi:10.1016/j.febslet.2004.09.069. PMID 15527767.
- Jackson TA, Taylor HE, Sharma D, et al. (2005). "Vascular endothelial growth factor receptor-2: counter-regulation by the transcription factors, TFII-I and TFII-IRD1". J. Biol. Chem. 280 (33): 29856–63. doi:10.1074/jbc.M500335200. PMID 15941713.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Tassabehji M, Hammond P, Karmiloff-Smith A, et al. (2005). "GTF2IRD1 in craniofacial development of humans and mice". Science. 310 (5751): 1184–7. doi:10.1126/science.1116142. PMID 16293761.
 | This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it. |