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]
End	28,770,277 bp[1]
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)[2]
End	49,386,861 bp[2]
RNA expression pattern
	; ;
	More reference expression data
Gene ontology
Molecular function	• GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • DNA binding; • sequence-specific DNA binding; • GO:0001948 protein binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	• cell nucleus; • nucleoplasm;
Biological process	• multicellular organism development; • aging; • 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 from RNA polymerase II promoter; • 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; • 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 from RNA polymerase II promoter;
	Sources:Amigo / QuickGO
Orthologs
	2290
	15228
	ENSG00000176165
	ENSMUSG00000020950
	P55316
	Q60987
	NM_005249
	NM_001160112; NM_008241
	NP_005240
	NP_001153584; NP_032267
	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]

gollark: Also, how does the interface work?

gollark: You also run into the problem that you couldn't cryptographically validate that something was signed by someone's brain-TPM-thing™ and not just a computer running the signature algorithm, unless you have some organization give it a certificate, which then gives them unreasonable amounts of power.

gollark: It's much easier to remember a sequence of random words than a long string of numbers, but if you want to operate on the wordy one you also need to store a big lookup table, which defeats the point.

gollark: Besides, the easy to operate on forms are also annoyingly hard to remember.

gollark: Oh yes, I'll just ??? elliptic curves mentally.

References

GRCh38: Ensembl release 89: ENSG00000176165 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020950 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"Entrez Gene: FOXG1B forkhead box G1B".
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.
"FOXG1 syndrome".
"FOXG1 Syndrome: More than a congenital variant of Rett Syndrome? | the University of Chicago Genetic Services".
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.

External links

International FOXG1 Foundation Information on FOXG1 Syndrome and Support
FOXG1B+protein,+human at the US 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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000176165 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid7959731-5] 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.

[pmid17260156-6] 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.

[entrez-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".

[pmid12657635-11] 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.