FOXG1
| Forkhead box G1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | 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 | ||||||||||||
| External IDs | OMIM: 164874 MGI: 1347464 HomoloGene: 3843 GeneCards: FOXG1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 2290 | 15228 | |||||||||||
| Ensembl | ENSG00000176165 | ENSMUSG00000020950 | |||||||||||
| UniProt | P55316 | Q60987 | |||||||||||
| RefSeq (mRNA) | NM_005249 | NM_001160112 | |||||||||||
| RefSeq (protein) | NP_005240 | NP_001153584 | |||||||||||
| Location (UCSC) |
Chr 14: 28.77 – 28.77 Mb |
Chr 12: 49.38 – 49.39 Mb | |||||||||||
| PubMed search | |||||||||||||
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.[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.
- 1 2 "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)
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