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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''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>
| update_page = yes
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| update_protein_box = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Forkhead box G1B
| HGNCid = 3812
| Symbol = FOXG1B
| AltSymbols =; BF1; FKH2; FKHL1; FKHL4; HBF-1; HFK1; QIN
| OMIM = 164874
| ECnumber = 
| Homologene = 3843
| MGIid = 1347464
| GeneAtlas_image1 = PBB_GE_FOXG1B_206018_at_tn.png
| GeneAtlas_image2 = PBB_GE_FOXG1B_207658_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007346 |text = regulation of progression through mitotic cell cycle}} {{GNF_GO|id=GO:0009953 |text = dorsal/ventral pattern formation}} {{GNF_GO|id=GO:0016199 |text = axon midline choice point recognition}} {{GNF_GO|id=GO:0030900 |text = forebrain development}} {{GNF_GO|id=GO:0042472 |text = inner ear morphogenesis}} {{GNF_GO|id=GO:0045665 |text = negative regulation of neuron differentiation}} {{GNF_GO|id=GO:0045787 |text = positive regulation of progression through cell cycle}} {{GNF_GO|id=GO:0048667 |text = neuron morphogenesis during differentiation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2290
    | Hs_Ensembl = ENSG00000176165
    | Hs_RefseqProtein = NP_005240
    | Hs_RefseqmRNA = NM_005249
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 14
    | Hs_GenLoc_start = 28304801
    | Hs_GenLoc_end = 28308621
    | Hs_Uniprot = P55315
    | Mm_EntrezGene = 15228
    | Mm_Ensembl = ENSMUSG00000020950
    | Mm_RefseqmRNA = XM_992309
    | Mm_RefseqProtein = XP_997403
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 12
    | Mm_GenLoc_start = 50259134
    | Mm_GenLoc_end = 50270254
    | Mm_Uniprot = Q3V1Q8
  }}
}}
'''Forkhead box G1B''', also known as '''FOXG1B''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: FOXG1B forkhead box G1B| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2290| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene belongs to the forkhead family of transcription factors that is characterized by a distinct forkhead domain. The complete function of this gene has not yet been determined; however, it has been shown to play a role in the development of the brain and telencephalon. Mutations of FOXG1 are the cause of FoxG1 Syndrome<ref>https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2443837/</ref>. 
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: FOXG1B forkhead box G1B| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2290| accessdate = }}</ref>
}}


==See also==
==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>{{cite web | url=http://ghr.nlm.nih.gov/condition/foxg1-syndrome | title=FOXG1 syndrome}}</ref><ref>{{cite web | url=http://dnatesting.uchicago.edu/blog/foxg1-syndrome-more-congenital-variant-rett-syndrome | title=FOXG1 Syndrome: More than a congenital variant of Rett Syndrome? &#124; the University of Chicago Genetic Services}}</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|2}}
{{reflist}}
{{Clear}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{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 =  }}
| citations =
* {{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 | author=Li J, Chang HW, Lai E, ''et al.'' |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 = 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 | author=Wiese S, Murphy DB, Schlung A, ''et al.'' |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= }}
* {{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 | author=Pierrou S, Hellqvist M, Samuelsson L, ''et al.'' |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 |doi= }}
* {{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  | author=Murphy DB, Wiese S, Burfeind P, ''et al.'' |title=Human brain factor 1, a new member of the fork head gene family. |journal=Genomics |volume=21 |issue= 3 |pages= 551-7 |year= 1994 |pmid= 7959731 |doi= 10.1006/geno.1994.1313 }}
* {{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 | author=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 |doi= }}
* {{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 | author=Kastury K, Li J, Druck T, ''et al.'' |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 |doi= }}
* {{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 | author=Huh S, Hatini V, Marcus RC, ''et al.'' |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 | 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 | author=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= }}
* {{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 | author=Dou C, Lee J, Liu B, ''et al.'' |title=BF-1 interferes with transforming growth factor beta signaling by associating with Smad partners. |journal=Mol. Cell. Biol. |volume=20 |issue= 17 |pages= 6201-11 |year= 2000 |pmid= 10938097 |doi= }}
* {{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 | author=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 |doi= 10.1128/MCB.21.6.1962-1972.2001 }}
* {{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 | author=Rodriguez C, Huang LJ, Son JK, ''et al.'' |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 | 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 | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{cite journal  | author=Heilig R, Eckenberg R, Petit JL, ''et al.'' |title=The DNA sequence and analysis of human chromosome 14. |journal=Nature |volume=421 |issue= 6923 |pages= 601-7 |year= 2003 |pmid= 12508121 |doi= 10.1038/nature01348 }}
*{{cite journal  | author=Tan K, Shaw AL, Madsen B, ''et al.'' |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 | author=Seoane J, Le HV, Shen L, ''et al.'' |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= }}
*{{cite journal | author=Shoichet SA, Kunde SA, Viertel P, ''et al.'' |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  | author=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 |year= 2007 |pmid= 17260156 |doi= 10.1007/s00427-006-0128-x }}
}}
{{refend}}
{{refend}}


== External links ==
== External links ==
* International FOXG1 Foundation [https://foxg1.org Information on FOXG1 Syndrome and Support ]
* {{MeshName|FOXG1B+protein,+human}}
* {{MeshName|FOXG1B+protein,+human}}
{{Transcription factors|g3}}


{{NLM content}}
{{NLM content}}
{{protein-stub}}
 
{{Transcription factors}}
[[Category:Forkhead transcription factors]]
[[Category:Transcription factors]]
 
{{WikiDoc Sources}}
 
{{gene-14-stub}}

Latest revision as of 06:28, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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 that is characterized by a distinct forkhead domain. The complete function of this gene has not yet been determined; however, it has been shown to play a role in the development of the brain and telencephalon. Mutations of FOXG1 are the cause of FoxG1 Syndrome[4].

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.[5][6]

Interactions

FOXG1 has been shown to interact with JARID1B.[7]

See also

References

  1. ↑ 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.
  2. ↑ 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. ↑ "Entrez Gene: FOXG1B forkhead box G1B".
  4. ↑ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2443837/
  5. ↑ "FOXG1 syndrome".
  6. ↑ "FOXG1 Syndrome: More than a congenital variant of Rett Syndrome? | the University of Chicago Genetic Services".
  7. ↑ 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

External links

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


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