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P55316 (FOXG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Forkhead box protein G1
Alternative name(s):
Brain factor 1
Short name=BF-1
Short name=BF1
Brain factor 2
Short name=BF-2
Short name=BF2
Short name=hBF-2
Forkhead box protein G1A
Forkhead box protein G1B
Forkhead box protein G1C
Forkhead-related protein FKHL1
Short name=HFK1
Forkhead-related protein FKHL2
Short name=HFK2
Forkhead-related protein FKHL3
Short name=HFK3
Gene names
Name:FOXG1
Synonyms:FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length489 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon. Ref.6

Subunit structure

Interacts with KDM5B. Ref.6

Subcellular location

Nucleus Ref.8.

Tissue specificity

Expression is restricted to the neurons of the developing telencephalon. Ref.1

Involvement in disease

Rett syndrome congenital variant (RTTCV) [MIM:613454]: A severe neurodevelopmental disorder with features of classic Rett syndrome but earlier onset in the first months of life. Clinical features include progressive microcephaly, hypotonia, irresponsiveness and irritability in the neonatal period, mental retardation, psychomotor regression and stereotypical movements.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9

Sequence similarities

Contains 1 fork-head DNA-binding domain.

Caution

Ref.1 claims that there are 3 different FOXG1 proteins, FOXG1A, FOXG1B, and FOXG1C. It was latter found that there is only one gene and the differences between these three may be sequencing errors since the protein is coded in a unique exon.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Mental retardation
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaging

Inferred from electronic annotation. Source: Ensembl

axon midline choice point recognition

Inferred from electronic annotation. Source: Ensembl

brain development

Traceable author statement Ref.2Ref.1. Source: ProtInc

dorsal/ventral pattern formation

Inferred from electronic annotation. Source: Ensembl

inner ear morphogenesis

Inferred from electronic annotation. Source: Ensembl

negative regulation of neuron differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription, DNA-templated

Inferred from direct assay Ref.6. Source: UniProtKB

neuron fate determination

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell cycle

Inferred from electronic annotation. Source: Ensembl

positive regulation of neuroblast proliferation

Inferred from electronic annotation. Source: Ensembl

pyramidal neuron migration

Inferred from electronic annotation. Source: Ensembl

regulation of mitotic cell cycle

Inferred from electronic annotation. Source: Ensembl

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Traceable author statement PubMed 7957066Ref.1. Source: ProtInc

protein binding

Inferred from physical interaction Ref.6. Source: UniProtKB

sequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 489489Forkhead box protein G1
PRO_0000091835

Regions

DNA binding181 – 27595Fork-head
Region383 – 40624Interaction with KDM5B
Compositional bias33 – 5725His-rich
Compositional bias58 – 11255Pro-rich
Compositional bias118 – 17760Gly-rich

Natural variations

Natural variant1091P → L. Ref.8
VAR_064395
Natural variant2151F → L in RTTCV. Ref.9
VAR_063885
Natural variant2441R → C in RTTCV; the mutant protein extensively, although not fully, localizes in nuclear speckles, while the wild-type is more widely dispersed throughout the nucleus. Ref.8
VAR_064396

Experimental info

Mutagenesis388 – 3892VP → AA: Abolishes interaction with KDM5B.
Mutagenesis394 – 3952VP → AA: Abolishes interaction with KDM5B.
Mutagenesis4041P → A: Abolishes interaction with KDM5B. Ref.6
Sequence conflict27 – 282AV → GL in CAA52239. Ref.1
Sequence conflict27 – 282AV → GL in CAA52240. Ref.1
Sequence conflict27 – 282AV → GL in CAA55038. Ref.2
Sequence conflict69 – 757PQQQQPP → RAAQQQQ in CAA52239. Ref.1
Sequence conflict79 – 13860PPAPQ…PGELA → RRGARRRRRRGPSSCCSAAH AHGAPEGQRQLAQGDRRGRG IC in CAA52240. Ref.1
Sequence conflict79 – 13860PPAPQ…PGELA → RRGARRRRRRGPSSCCSAAH AHGAPEGQRQLAQGDRRGRG IC in CAA55038. Ref.2
Sequence conflict81 – 9616APQPP…AADDD → LAPQAGGAAQSNDE in CAA52239. Ref.1
Sequence conflict1011Q → L in CAA52239. Ref.1
Sequence conflict107 – 11711PPPPPPAAALD → TDHHRPPS in CAA52239. Ref.1
Sequence conflict122 – 13312DGLGG…EPGGG → GGCCR in CAA52239. Ref.1
Sequence conflict1221D → V in AAH50072. Ref.5
Sequence conflict1381A → G in CAA52239. Ref.1
Sequence conflict148 – 1503GAG → AR in CAA52240. Ref.1
Sequence conflict148 – 1503GAG → AR in CAA55038. Ref.2
Sequence conflict1831P → PP in CAA52241. Ref.1
Sequence conflict1941I → M in CAA52240. Ref.1
Sequence conflict1941I → M in CAA55038. Ref.2
Sequence conflict2261Q → H in CAA52241. Ref.1
Sequence conflict2311H → D in CAA52241. Ref.1
Sequence conflict2371K → M in AAH50072. Ref.5
Sequence conflict2741Missing in CAA52240. Ref.1
Sequence conflict2741Missing in CAA55038. Ref.2
Sequence conflict2761Missing in CAA52240. Ref.1
Sequence conflict2761Missing in CAA55038. Ref.2
Sequence conflict2811R → P in CAA52239. Ref.1
Sequence conflict2811R → P in CAA52240. Ref.1
Sequence conflict2811R → P in CAA55038. Ref.2
Sequence conflict2841L → P in CAA52240. Ref.1
Sequence conflict2841L → P in CAA55038. Ref.2
Sequence conflict286 – 2916FKRGAR → AFRWCA in CAA52241. Ref.1
Sequence conflict2911R → A in CAA52239. Ref.1
Sequence conflict2911R → A in CAA52240. Ref.1
Sequence conflict2911R → A in CAA55038. Ref.2
Sequence conflict302 – 32019RAGSL…LHHPR → APAPSTGPCRPSCPCTTP in CAA52240. Ref.1
Sequence conflict302 – 32019RAGSL…LHHPR → APAPSTGPCRPSCPCTTP in CAA55038. Ref.2
Sequence conflict3561F → S in CAA52240. Ref.1
Sequence conflict3561F → S in CAA55038. Ref.2
Sequence conflict3711E → G in CAA52240. Ref.1
Sequence conflict3711E → G in CAA55038. Ref.2
Sequence conflict3851A → T in CAA52240. Ref.1
Sequence conflict3851A → T in CAA55038. Ref.2
Sequence conflict3931S → L in CAA52240. Ref.1
Sequence conflict3931S → L in CAA55038. Ref.2
Sequence conflict4391A → T in AAH50072. Ref.5
Sequence conflict446 – 4505QAPST → AGPPRP in CAA52240. Ref.1
Sequence conflict446 – 4505QAPST → AGPPRP in CAA55038. Ref.2
Sequence conflict4461Q → P in CAA52239. Ref.1
Sequence conflict449 – 4502ST → RP in CAA52239. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P55316 [UniParc].

Last modified July 10, 2007. Version 2.
Checksum: 897945F9CE4F2A71

FASTA48952,352
        10         20         30         40         50         60 
MLDMGDRKEV KMIPKSSFSI NSLVPEAVQN DNHHASHGHH NSHHPQHHHH HHHHHHHPPP 

        70         80         90        100        110        120 
PAPQPPPPPQ QQQPPPPPPP APQPPQTRGA PAADDDKGPQ QLLLPPPPPP PPAAALDGAK 

       130        140        150        160        170        180 
ADGLGGKGEP GGGPGELAPV GPDEKEKGAG AGGEEKKGAG EGGKDGEGGK EGEKKNGKYE 

       190        200        210        220        230        240 
KPPFSYNALI MMAIRQSPEK RLTLNGIYEF IMKNFPYYRE NKQGWQNSIR HNLSLNKCFV 

       250        260        270        280        290        300 
KVPRHYDDPG KGNYWMLDPS SDDVFIGGTT GKLRRRSTTS RAKLAFKRGA RLTSTGLTFM 

       310        320        330        340        350        360 
DRAGSLYWPM SPFLSLHHPR ASSTLSYNGT TSAYPSHPMP YSSVLTQNSL GNNHSFSTAN 

       370        380        390        400        410        420 
GLSVDRLVNG EIPYATHHLT AAALAASVPC GLSVPCSGTY SLNPCSVNLL AGQTSYFFPH 

       430        440        450        460        470        480 
VPHPSMTSQS STSMSARAAS SSTSPQAPST LPCESLRPSL PSFTTGLSGG LSDYFTHQNQ 


GSSSNPLIH 

« Hide

References

« Hide 'large scale' references
[1]"Human brain factor 1, a new member of the fork head gene family."
Murphy D.B., Wiese S., Burfeind P., Schmundt D., Mattei M.-G., Schulz-Schaeffer W., Thies U.
Genomics 21:551-557(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Fetal brain.
[2]"The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q."
Wiese S., Murphy D.B., Schlung A., Burfeind P., Schmundt D., Schnulle V., Mattei M.-G., Thies U.
Biochim. Biophys. Acta 1262:105-112(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[6]"Human PLU-1 has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9."
Tan K., Shaw A.L., Madsen B., Jensen K., Taylor-Papadimitriou J., Freemont P.S.
J. Biol. Chem. 278:20507-20513(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH KDM5B, MUTAGENESIS OF 388-VAL-PRO-389; 394-VAL-PRO-395 AND PRO-404, FUNCTION.
[7]"Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation."
Bredenkamp N., Seoighe C., Illing N.
Dev. Genes Evol. 217:227-233(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION OF FOXG1 AS A SINGLE-COPY GENE.
[8]"A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization."
Guen T.L., Fichou Y., Nectoux J., Bahi-Buisson N., Rivier F., Boddaert N., Diebold B., Heron D., Chelly J., Bienvenu T.
Hum. Mutat. 32:E2026-E2035(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, VARIANT RTTCV CYS-244, VARIANT LEU-109, CHARACTERIZATION OF VARIANT RTTCV CYS-244.
[9]"Novel FOXG1 mutations associated with the congenital variant of Rett syndrome."
Mencarelli M.A., Spanhol-Rosseto A., Artuso R., Rondinella D., De Filippis R., Bahi-Buisson N., Nectoux J., Rubinsztajn R., Bienvenu T., Moncla A., Chabrol B., Villard L., Krumina Z., Armstrong J., Roche A., Pineda M., Gak E., Mari F., Ariani F., Renieri A.
J. Med. Genet. 47:49-53(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RTTCV LEU-215.
+Additional computationally mapped references.

Web resources

Wikipedia

FOXG1 entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X74142 mRNA. Translation: CAA52239.1.
X74143 mRNA. Translation: CAA52240.1.
X74144 mRNA. Translation: CAA52241.1.
X78202 Genomic DNA. Translation: CAA55038.1.
AL049777 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65978.1.
BC050072 mRNA. Translation: AAH50072.1.
CCDSCCDS9636.1.
PIRB54743.
I37451.
RefSeqNP_005240.3. NM_005249.4.
UniGeneHs.632336.
Hs.740590.
Hs.741222.

3D structure databases

ProteinModelPortalP55316.
SMRP55316. Positions 181-269.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108580. 10 interactions.
IntActP55316. 2 interactions.
MINTMINT-1407364.
STRING9606.ENSP00000339004.

PTM databases

PhosphoSiteP55316.

Polymorphism databases

DMDM152031604.

Proteomic databases

PaxDbP55316.
PRIDEP55316.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000313071; ENSP00000339004; ENSG00000176165.
ENST00000382535; ENSP00000371975; ENSG00000176165.
GeneID2290.
KEGGhsa:2290.
UCSCuc001wqe.4. human.

Organism-specific databases

CTD2290.
GeneCardsGC14P029235.
HGNCHGNC:3811. FOXG1.
MIM164874. gene.
613454. phenotype.
neXtProtNX_P55316.
Orphanet261229. 14q11.2 microduplication syndrome.
261144. 14q12 microdeletion syndrome.
3095. Atypical Rett syndrome.
PharmGKBPA162388806.
PA28228.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5025.
HOGENOMHOG000112629.
HOVERGENHBG051645.
InParanoidP55316.
KOK09385.
OMAHPMSYST.
OrthoDBEOG7N37DT.
PhylomeDBP55316.
TreeFamTF316127.

Gene expression databases

BgeeP55316.
CleanExHS_FOXG1.
GenevestigatorP55316.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
InterProIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSPR00053. FORKHEAD.
SMARTSM00339. FH. 1 hit.
[Graphical view]
PROSITEPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFOXG1.
GenomeRNAi2290.
NextBio9307.
PROP55316.
SOURCESearch...

Entry information

Entry nameFOXG1_HUMAN
AccessionPrimary (citable) accession number: P55316
Secondary accession number(s): A6NFY2 expand/collapse secondary AC list , P55315, Q14488, Q86XT7
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 10, 2007
Last modified: July 9, 2014
This is version 121 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM