FOXG1

FOXG1
Identifiers
Aliases	FOXG1 , BF1, BF2, FHKL3, FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C, HBF-1, HBF-2, HBF-3, HBF-G2, HBF2, HFK1, HFK2, HFK3, KHL2, QIN, forkhead box G1
External IDs	OMIM: 164874 MGI: 1347464 HomoloGene: 3843 GeneCards: FOXG1
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q12 Start 28,766,787 bp [1] End 28,770,277 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12 B3|12 21.78 cM Start 49,429,443 bp [2] End 49,433,644 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 ganglionic eminence Region I of hippocampus proper middle temporal gyrus orbitofrontal cortex entorhinal cortex Brodmann area 46 postcentral gyrus frontal pole Top expressed in ganglionic eminence medial ganglionic eminence subiculum nucleus accumbens olfactory tubercle prefrontal cortex Region I of hippocampus proper primary motor cortex hippocampus proper barrel cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding sequence-specific DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm Biological process multicellular organism development human ageing brain development negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated transcription, DNA-templated anatomical structure morphogenesis cell differentiation negative regulation of transcription by RNA polymerase II positive regulation of neuroblast proliferation regulation of mitotic cell cycle dorsal/ventral pattern formation regulation of gene expression axon midline choice point recognition pyramidal neuron migration to cerebral cortex central nervous system neuron development cerebral cortex development neurogenesis forebrain development inner ear morphogenesis negative regulation of neuron differentiation positive regulation of neuron differentiation positive regulation of cell cycle neuron fate determination cell morphogenesis involved in neuron differentiation regulation of cell cycle regulation of neural precursor cell proliferation regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2290 15228 Ensembl ENSG00000176165 ENSMUSG00000020950 UniProt P55316 Q60987 RefSeq (mRNA) NM_005249 NM_001160112 NM_008241 RefSeq (protein) NP_005240 NP_001153584 NP_032267 Location (UCSC) Chr 14: 28.77 – 28.77 Mb Chr 12: 49.43 – 49.43 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Forkhead box protein G1 is a protein that in humans is encoded by the FOXG1 gene. ^{[5] [6] [7]}

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. ^[8]

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. ^{[9] [10]}

Interactions

FOXG1 has been shown to interact with JARID1B. ^[11]

See also

• FOX proteins

References

1. GRCh38: Ensembl release 89: ENSG00000176165 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020950 - Ensembl, 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. 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.
6. 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. S2CID   20867411.
7. "Entrez Gene: FOXG1B forkhead box G1B".
8. Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A (2008). "FOXG1 is responsible for the congenital variant of Rett syndrome". Am. J. Hum. Genet. 83 (1): 89–93. doi:10.1016/j.ajhg.2008.05.015. PMC   2443837 . PMID   18571142.
9. "FOXG1 syndrome".
10. "FOXG1 Syndrome: More than a congenital variant of Rett Syndrome? | the University of Chicago Genetic Services".
11. 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. doi:10.1002/j.1460-2075.1994.tb06827.x. 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. Bibcode:1993PNAS...90.4490L. 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. Bibcode:1994PNAS...91.3616K. 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. S2CID   2819134.

External links

• International FoxG1 Foundation Information for FOXG1 families
• FOXG1 Research Foundation Info on FOXG1 Syndrome
• The Children's Rare Disorders Fund Info on FOXG1 Syndrome
• FOXG1B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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