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{{ | '''Forkhead box protein G1''' is a [[protein]] that in humans is encoded by the ''FOXG1'' [[gene]].<ref name="pmid7959731">{{cite journal | vauthors = Murphy DB, Wiese S, Burfeind P, Schmundt D, Mattei MG, Schulz-Schaeffer W, Thies U | title = Human brain factor 1, a new member of the fork head gene family | journal = Genomics | volume = 21 | issue = 3 | pages = 551–7 | date = Nov 1994 | pmid = 7959731 | pmc = | doi = 10.1006/geno.1994.1313 }}</ref><ref name="pmid17260156">{{cite journal | vauthors = Bredenkamp N, Seoighe C, Illing N | title = Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation | journal = Dev Genes Evol | volume = 217 | issue = 3 | pages = 227–33 | date = Feb 2007 | pmid = 17260156 | pmc = | doi = 10.1007/s00427-006-0128-x }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: FOXG1B forkhead box G1B| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2290| accessdate = }}</ref> | ||
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== Function == | |||
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and telencephalon. It likely causes problems if it is mutated in children. Mutations cause high levels of mortality.<ref name="entrez" /> | |||
==See also== | Cajal Retzius Cell development is regulated by Foxg1 | ||
==FOXG1 syndrome== | |||
FOXG1 syndrome is characterized by microcephaly and brain malformations. It affects most aspects of development and can cause seizures. FOXG1 syndrome is classified as an [[Autism Spectrum Disorder]] and was previously considered a variant of [[Rett Syndrome]].<ref>http://ghr.nlm.nih.gov/condition/foxg1-syndrome</ref><ref>http://dnatesting.uchicago.edu/blog/foxg1-syndrome-more-congenital-variant-rett-syndrome</ref> | |||
== Interactions == | |||
FOXG1 has been shown to [[Protein-protein interaction|interact]] with [[JARID1B]].<ref name=pmid12657635>{{cite journal | vauthors = Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS | title = Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9 | journal = J. Biol. Chem. | volume = 278 | issue = 23 | pages = 20507–13 | date = Jun 2003 | pmid = 12657635 | doi = 10.1074/jbc.M301994200 }}</ref> | |||
== See also == | |||
* [[FOX proteins]] | * [[FOX proteins]] | ||
==References== | == References == | ||
{{reflist | {{reflist}} | ||
{{Clear}} | |||
==Further reading== | == Further reading == | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
* {{cite journal | vauthors = Li J, Chang HW, Lai E, Parker EJ, Vogt PK | title = The oncogene qin codes for a transcriptional repressor | journal = Cancer Res. | volume = 55 | issue = 23 | pages = 5540–4 | year = 1995 | pmid = 7585630 | doi = }} | |||
* {{cite journal | vauthors = Wiese S, Murphy DB, Schlung A, Burfeind P, Schmundt D, Schnülle V, Mattei MG, Thies U | title = The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q | journal = Biochim. Biophys. Acta | volume = 1262 | issue = 2–3 | pages = 105–12 | year = 1995 | pmid = 7599184 | doi = 10.1016/0167-4781(95)00059-p }} | |||
*{{cite journal | * {{cite journal | vauthors = Pierrou S, Hellqvist M, Samuelsson L, Enerbäck S, Carlsson P | title = Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending | journal = EMBO J. | volume = 13 | issue = 20 | pages = 5002–12 | year = 1994 | pmid = 7957066 | pmc = 395442 | doi = }} | ||
*{{cite journal | * {{cite journal | vauthors = Li J, Vogt PK | title = The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 90 | issue = 10 | pages = 4490–4 | year = 1993 | pmid = 8099441 | pmc = 46537 | doi = 10.1073/pnas.90.10.4490 }} | ||
*{{cite journal | * {{cite journal | vauthors = Kastury K, Li J, Druck T, Su H, Vogt PK, Croce CM, Huebner K | title = The human homologue of the retroviral oncogene qin maps to chromosome 14q13 | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 91 | issue = 9 | pages = 3616–8 | year = 1994 | pmid = 8170957 | pmc = 43631 | doi = 10.1073/pnas.91.9.3616 }} | ||
* {{cite journal | vauthors = Huh S, Hatini V, Marcus RC, Li SC, Lai E | title = Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression | journal = Dev. Biol. | volume = 211 | issue = 1 | pages = 53–63 | year = 1999 | pmid = 10373304 | doi = 10.1006/dbio.1999.9303 }} | |||
*{{cite journal | * {{cite journal | vauthors = Dou CL, Li S, Lai E | title = Dual role of brain factor-1 in regulating growth and patterning of the cerebral hemispheres | journal = Cereb. Cortex | volume = 9 | issue = 6 | pages = 543–50 | year = 1999 | pmid = 10498272 | doi = 10.1093/cercor/9.6.543 }} | ||
*{{cite journal | * {{cite journal | vauthors = Dou C, Lee J, Liu B, Liu F, Massague J, Xuan S, Lai E | title = BF-1 Interferes with Transforming Growth Factor β Signaling by Associating with Smad Partners | journal = Mol. Cell. Biol. | volume = 20 | issue = 17 | pages = 6201–11 | year = 2000 | pmid = 10938097 | pmc = 86095 | doi = 10.1128/MCB.20.17.6201-6211.2000 }} | ||
*{{cite journal | * {{cite journal | vauthors = Yao J, Lai E, Stifani S | title = The Winged-Helix Protein Brain Factor 1 Interacts with Groucho and Hes Proteins To Repress Transcription | journal = Mol. Cell. Biol. | volume = 21 | issue = 6 | pages = 1962–72 | year = 2001 | pmid = 11238932 | pmc = 86788 | doi = 10.1128/MCB.21.6.1962-1972.2001 }} | ||
*{{cite journal | * {{cite journal | vauthors = Rodriguez C, Huang LJ, Son JK, McKee A, Xiao Z, Lodish HF | title = Functional cloning of the proto-oncogene brain factor-1 (BF-1) as a Smad-binding antagonist of transforming growth factor-beta signaling | journal = J. Biol. Chem. | volume = 276 | issue = 32 | pages = 30224–30 | year = 2001 | pmid = 11387330 | doi = 10.1074/jbc.M102759200 }} | ||
*{{cite journal | * {{cite journal | vauthors = Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS | title = Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9 | journal = J. Biol. Chem. | volume = 278 | issue = 23 | pages = 20507–13 | year = 2003 | pmid = 12657635 | doi = 10.1074/jbc.M301994200 }} | ||
*{{cite journal | * {{cite journal | vauthors = Seoane J, Le HV, Shen L, Anderson SA, Massagué J | title = Integration of Smad and forkhead pathways in the control of neuroepithelial and glioblastoma cell proliferation | journal = Cell | volume = 117 | issue = 2 | pages = 211–23 | year = 2004 | pmid = 15084259 | doi = 10.1016/S0092-8674(04)00298-3 }} | ||
*{{cite journal | * {{cite journal | vauthors = Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM | title = Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly | journal = Hum. Genet. | volume = 117 | issue = 6 | pages = 536–44 | year = 2005 | pmid = 16133170 | doi = 10.1007/s00439-005-1310-3 }} | ||
*{{cite journal | |||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
== External links == | == External links == | ||
* {{MeshName|FOXG1B+protein,+human}} | * {{MeshName|FOXG1B+protein,+human}} | ||
* FOXG1 [http://foxg1research.org Research Information] | |||
{{Transcription factors|g3}} | |||
{{NLM content}} | {{NLM content}} | ||
[[Category:Forkhead transcription factors]] | |||
[[Category: | |||
{{ | |||
{{gene-14-stub}} |
Revision as of 02:13, 27 October 2017
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
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Forkhead box protein G1 is a protein that in humans is encoded by the FOXG1 gene.[1][2][3]
Function
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and telencephalon. It likely causes problems if it is mutated in children. Mutations cause high levels of mortality.[3]
Cajal Retzius Cell development is regulated by Foxg1
FOXG1 syndrome
FOXG1 syndrome is characterized by microcephaly and brain malformations. It affects most aspects of development and can cause seizures. FOXG1 syndrome is classified as an Autism Spectrum Disorder and was previously considered a variant of Rett Syndrome.[4][5]
Interactions
FOXG1 has been shown to interact with JARID1B.[6]
See also
References
- ↑ Murphy DB, Wiese S, Burfeind P, Schmundt D, Mattei MG, Schulz-Schaeffer W, Thies U (Nov 1994). "Human brain factor 1, a new member of the fork head gene family". Genomics. 21 (3): 551–7. doi:10.1006/geno.1994.1313. PMID 7959731.
- ↑ Bredenkamp N, Seoighe C, Illing N (Feb 2007). "Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation". Dev Genes Evol. 217 (3): 227–33. doi:10.1007/s00427-006-0128-x. PMID 17260156.
- ↑ 3.0 3.1 "Entrez Gene: FOXG1B forkhead box G1B".
- ↑ http://ghr.nlm.nih.gov/condition/foxg1-syndrome
- ↑ http://dnatesting.uchicago.edu/blog/foxg1-syndrome-more-congenital-variant-rett-syndrome
- ↑ Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS (Jun 2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". J. Biol. Chem. 278 (23): 20507–13. doi:10.1074/jbc.M301994200. PMID 12657635.
Further reading
- Li J, Chang HW, Lai E, Parker EJ, Vogt PK (1995). "The oncogene qin codes for a transcriptional repressor". Cancer Res. 55 (23): 5540–4. PMID 7585630.
- Wiese S, Murphy DB, Schlung A, Burfeind P, Schmundt D, Schnülle V, Mattei MG, Thies U (1995). "The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q". Biochim. Biophys. Acta. 1262 (2–3): 105–12. doi:10.1016/0167-4781(95)00059-p. PMID 7599184.
- Pierrou S, Hellqvist M, Samuelsson L, Enerbäck S, Carlsson P (1994). "Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending". EMBO J. 13 (20): 5002–12. PMC 395442. PMID 7957066.
- Li J, Vogt PK (1993). "The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head". Proc. Natl. Acad. Sci. U.S.A. 90 (10): 4490–4. doi:10.1073/pnas.90.10.4490. PMC 46537. PMID 8099441.
- Kastury K, Li J, Druck T, Su H, Vogt PK, Croce CM, Huebner K (1994). "The human homologue of the retroviral oncogene qin maps to chromosome 14q13". Proc. Natl. Acad. Sci. U.S.A. 91 (9): 3616–8. doi:10.1073/pnas.91.9.3616. PMC 43631. PMID 8170957.
- Huh S, Hatini V, Marcus RC, Li SC, Lai E (1999). "Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression". Dev. Biol. 211 (1): 53–63. doi:10.1006/dbio.1999.9303. PMID 10373304.
- Dou CL, Li S, Lai E (1999). "Dual role of brain factor-1 in regulating growth and patterning of the cerebral hemispheres". Cereb. Cortex. 9 (6): 543–50. doi:10.1093/cercor/9.6.543. PMID 10498272.
- Dou C, Lee J, Liu B, Liu F, Massague J, Xuan S, Lai E (2000). "BF-1 Interferes with Transforming Growth Factor β Signaling by Associating with Smad Partners". Mol. Cell. Biol. 20 (17): 6201–11. doi:10.1128/MCB.20.17.6201-6211.2000. PMC 86095. PMID 10938097.
- Yao J, Lai E, Stifani S (2001). "The Winged-Helix Protein Brain Factor 1 Interacts with Groucho and Hes Proteins To Repress Transcription". Mol. Cell. Biol. 21 (6): 1962–72. doi:10.1128/MCB.21.6.1962-1972.2001. PMC 86788. PMID 11238932.
- Rodriguez C, Huang LJ, Son JK, McKee A, Xiao Z, Lodish HF (2001). "Functional cloning of the proto-oncogene brain factor-1 (BF-1) as a Smad-binding antagonist of transforming growth factor-beta signaling". J. Biol. Chem. 276 (32): 30224–30. doi:10.1074/jbc.M102759200. PMID 11387330.
- Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS (2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". J. Biol. Chem. 278 (23): 20507–13. doi:10.1074/jbc.M301994200. PMID 12657635.
- Seoane J, Le HV, Shen L, Anderson SA, Massagué J (2004). "Integration of Smad and forkhead pathways in the control of neuroepithelial and glioblastoma cell proliferation". Cell. 117 (2): 211–23. doi:10.1016/S0092-8674(04)00298-3. PMID 15084259.
- Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM (2005). "Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly". Hum. Genet. 117 (6): 536–44. doi:10.1007/s00439-005-1310-3. PMID 16133170.
External links
- FOXG1B+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- FOXG1 Research Information
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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