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Protein

Forkhead box protein G1

Gene

FOXG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi181 – 275Fork-headPROSITE-ProRule annotationAdd BLAST95

GO - Molecular functioni

GO - Biological processi

  • aging Source: Ensembl
  • brain development Source: ProtInc
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000176165-MONOMER.
SIGNORiP55316.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:FOXG1
Synonyms:FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:3811. FOXG1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Rett syndrome congenital variant (RTTCV)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613454
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063885215F → L in RTTCV. 1 PublicationCorresponds to variant rs267606828dbSNPEnsembl.1
Natural variantiVAR_064396244R → 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. 1 PublicationCorresponds to variant rs786205009dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi388 – 389VP → AA: Abolishes interaction with KDM5B. 1 Publication2
Mutagenesisi394 – 395VP → AA: Abolishes interaction with KDM5B. 1 Publication2
Mutagenesisi404P → A: Abolishes interaction with KDM5B. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi2290.
MalaCardsiFOXG1.
MIMi613454. phenotype.
OpenTargetsiENSG00000176165.
Orphaneti261229. 14q11.2 microduplication syndrome.
261144. 14q12 microdeletion syndrome.
3095. Atypical Rett syndrome.
PharmGKBiPA162388806.
PA28228.

Polymorphism and mutation databases

BioMutaiFOXG1.
DMDMi152031604.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000918351 – 489Forkhead box protein G1Add BLAST489

Proteomic databases

MaxQBiP55316.
PaxDbiP55316.
PeptideAtlasiP55316.
PRIDEiP55316.

PTM databases

iPTMnetiP55316.
PhosphoSitePlusiP55316.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000176165.
CleanExiHS_FOXG1.
GenevisibleiP55316. HS.

Interactioni

Subunit structurei

Interacts with KDM5B.1 Publication

Protein-protein interaction databases

BioGridi108580. 75 interactors.
IntActiP55316. 62 interactors.
MINTiMINT-1407364.
STRINGi9606.ENSP00000339004.

Structurei

3D structure databases

ProteinModelPortaliP55316.
SMRiP55316.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni383 – 406Interaction with KDM5B1 PublicationAdd BLAST24

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi33 – 57His-richAdd BLAST25
Compositional biasi58 – 112Pro-richAdd BLAST55
Compositional biasi118 – 177Gly-richAdd BLAST60

Sequence similaritiesi

Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2294. Eukaryota.
COG5025. LUCA.
GeneTreeiENSGT00800000124014.
HOGENOMiHOG000112629.
HOVERGENiHBG051645.
InParanoidiP55316.
KOiK09385.
OMAiQSSTSMT.
OrthoDBiEOG091G0JF7.
PhylomeDBiP55316.
TreeFamiTF316127.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. Fork_head_dom.
IPR018122. TF_fork_head_CS_1.
IPR030456. TF_fork_head_CS_2.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00250. Forkhead. 1 hit.
[Graphical view]
PRINTSiPR00053. FORKHEAD.
SMARTiSM00339. FH. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P55316-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLDMGDRKEV KMIPKSSFSI NSLVPEAVQN DNHHASHGHH NSHHPQHHHH
60 70 80 90 100
HHHHHHHPPP PAPQPPPPPQ QQQPPPPPPP APQPPQTRGA PAADDDKGPQ
110 120 130 140 150
QLLLPPPPPP PPAAALDGAK ADGLGGKGEP GGGPGELAPV GPDEKEKGAG
160 170 180 190 200
AGGEEKKGAG EGGKDGEGGK EGEKKNGKYE KPPFSYNALI MMAIRQSPEK
210 220 230 240 250
RLTLNGIYEF IMKNFPYYRE NKQGWQNSIR HNLSLNKCFV KVPRHYDDPG
260 270 280 290 300
KGNYWMLDPS SDDVFIGGTT GKLRRRSTTS RAKLAFKRGA RLTSTGLTFM
310 320 330 340 350
DRAGSLYWPM SPFLSLHHPR ASSTLSYNGT TSAYPSHPMP YSSVLTQNSL
360 370 380 390 400
GNNHSFSTAN GLSVDRLVNG EIPYATHHLT AAALAASVPC GLSVPCSGTY
410 420 430 440 450
SLNPCSVNLL AGQTSYFFPH VPHPSMTSQS STSMSARAAS SSTSPQAPST
460 470 480
LPCESLRPSL PSFTTGLSGG LSDYFTHQNQ GSSSNPLIH
Length:489
Mass (Da):52,352
Last modified:July 10, 2007 - v2
Checksum:i897945F9CE4F2A71
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti27 – 28AV → GL in CAA52239 (PubMed:7959731).Curated2
Sequence conflicti27 – 28AV → GL in CAA52240 (PubMed:7959731).Curated2
Sequence conflicti27 – 28AV → GL in CAA55038 (PubMed:7599184).Curated2
Sequence conflicti69 – 75PQQQQPP → RAAQQQQ in CAA52239 (PubMed:7959731).Curated7
Sequence conflicti79 – 138PPAPQ…PGELA → RRGARRRRRRGPSSCCSAAH AHGAPEGQRQLAQGDRRGRG IC in CAA52240 (PubMed:7959731).CuratedAdd BLAST60
Sequence conflicti79 – 138PPAPQ…PGELA → RRGARRRRRRGPSSCCSAAH AHGAPEGQRQLAQGDRRGRG IC in CAA55038 (PubMed:7599184).CuratedAdd BLAST60
Sequence conflicti81 – 96APQPP…AADDD → LAPQAGGAAQSNDE in CAA52239 (PubMed:7959731).CuratedAdd BLAST16
Sequence conflicti101Q → L in CAA52239 (PubMed:7959731).Curated1
Sequence conflicti107 – 117PPPPPPAAALD → TDHHRPPS in CAA52239 (PubMed:7959731).CuratedAdd BLAST11
Sequence conflicti122 – 133DGLGG…EPGGG → GGCCR in CAA52239 (PubMed:7959731).CuratedAdd BLAST12
Sequence conflicti122D → V in AAH50072 (PubMed:15489334).Curated1
Sequence conflicti138A → G in CAA52239 (PubMed:7959731).Curated1
Sequence conflicti148 – 150GAG → AR in CAA52240 (PubMed:7959731).Curated3
Sequence conflicti148 – 150GAG → AR in CAA55038 (PubMed:7599184).Curated3
Sequence conflicti183P → PP in CAA52241 (PubMed:7959731).Curated1
Sequence conflicti194I → M in CAA52240 (PubMed:7959731).Curated1
Sequence conflicti194I → M in CAA55038 (PubMed:7599184).Curated1
Sequence conflicti226Q → H in CAA52241 (PubMed:7959731).Curated1
Sequence conflicti231H → D in CAA52241 (PubMed:7959731).Curated1
Sequence conflicti237K → M in AAH50072 (PubMed:15489334).Curated1
Sequence conflicti274Missing in CAA52240 (PubMed:7959731).Curated1
Sequence conflicti274Missing in CAA55038 (PubMed:7599184).Curated1
Sequence conflicti276Missing in CAA52240 (PubMed:7959731).Curated1
Sequence conflicti276Missing in CAA55038 (PubMed:7599184).Curated1
Sequence conflicti281R → P in CAA52239 (PubMed:7959731).Curated1
Sequence conflicti281R → P in CAA52240 (PubMed:7959731).Curated1
Sequence conflicti281R → P in CAA55038 (PubMed:7599184).Curated1
Sequence conflicti284L → P in CAA52240 (PubMed:7959731).Curated1
Sequence conflicti284L → P in CAA55038 (PubMed:7599184).Curated1
Sequence conflicti286 – 291FKRGAR → AFRWCA in CAA52241 (PubMed:7959731).Curated6
Sequence conflicti291R → A in CAA52239 (PubMed:7959731).Curated1
Sequence conflicti291R → A in CAA52240 (PubMed:7959731).Curated1
Sequence conflicti291R → A in CAA55038 (PubMed:7599184).Curated1
Sequence conflicti302 – 320RAGSL…LHHPR → APAPSTGPCRPSCPCTTP in CAA52240 (PubMed:7959731).CuratedAdd BLAST19
Sequence conflicti302 – 320RAGSL…LHHPR → APAPSTGPCRPSCPCTTP in CAA55038 (PubMed:7599184).CuratedAdd BLAST19
Sequence conflicti356F → S in CAA52240 (PubMed:7959731).Curated1
Sequence conflicti356F → S in CAA55038 (PubMed:7599184).Curated1
Sequence conflicti371E → G in CAA52240 (PubMed:7959731).Curated1
Sequence conflicti371E → G in CAA55038 (PubMed:7599184).Curated1
Sequence conflicti385A → T in CAA52240 (PubMed:7959731).Curated1
Sequence conflicti385A → T in CAA55038 (PubMed:7599184).Curated1
Sequence conflicti393S → L in CAA52240 (PubMed:7959731).Curated1
Sequence conflicti393S → L in CAA55038 (PubMed:7599184).Curated1
Sequence conflicti439A → T in AAH50072 (PubMed:15489334).Curated1
Sequence conflicti446 – 450QAPST → AGPPRP in CAA52240 (PubMed:7959731).Curated5
Sequence conflicti446 – 450QAPST → AGPPRP in CAA55038 (PubMed:7599184).Curated5
Sequence conflicti446Q → P in CAA52239 (PubMed:7959731).Curated1
Sequence conflicti449 – 450ST → RP in CAA52239 (PubMed:7959731).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064395109P → L.1 PublicationCorresponds to variant rs398124203dbSNPEnsembl.1
Natural variantiVAR_063885215F → L in RTTCV. 1 PublicationCorresponds to variant rs267606828dbSNPEnsembl.1
Natural variantiVAR_064396244R → 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. 1 PublicationCorresponds to variant rs786205009dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS9636.1.
PIRiB54743.
I37451.
RefSeqiNP_005240.3. NM_005249.4.
UniGeneiHs.632336.
Hs.740590.
Hs.741222.

Genome annotation databases

EnsembliENST00000313071; ENSP00000339004; ENSG00000176165.
GeneIDi2290.
KEGGihsa:2290.
UCSCiuc001wqe.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

FOXG1 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS9636.1.
PIRiB54743.
I37451.
RefSeqiNP_005240.3. NM_005249.4.
UniGeneiHs.632336.
Hs.740590.
Hs.741222.

3D structure databases

ProteinModelPortaliP55316.
SMRiP55316.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108580. 75 interactors.
IntActiP55316. 62 interactors.
MINTiMINT-1407364.
STRINGi9606.ENSP00000339004.

PTM databases

iPTMnetiP55316.
PhosphoSitePlusiP55316.

Polymorphism and mutation databases

BioMutaiFOXG1.
DMDMi152031604.

Proteomic databases

MaxQBiP55316.
PaxDbiP55316.
PeptideAtlasiP55316.
PRIDEiP55316.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313071; ENSP00000339004; ENSG00000176165.
GeneIDi2290.
KEGGihsa:2290.
UCSCiuc001wqe.5. human.

Organism-specific databases

CTDi2290.
DisGeNETi2290.
GeneCardsiFOXG1.
HGNCiHGNC:3811. FOXG1.
MalaCardsiFOXG1.
MIMi164874. gene.
613454. phenotype.
neXtProtiNX_P55316.
OpenTargetsiENSG00000176165.
Orphaneti261229. 14q11.2 microduplication syndrome.
261144. 14q12 microdeletion syndrome.
3095. Atypical Rett syndrome.
PharmGKBiPA162388806.
PA28228.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2294. Eukaryota.
COG5025. LUCA.
GeneTreeiENSGT00800000124014.
HOGENOMiHOG000112629.
HOVERGENiHBG051645.
InParanoidiP55316.
KOiK09385.
OMAiQSSTSMT.
OrthoDBiEOG091G0JF7.
PhylomeDBiP55316.
TreeFamiTF316127.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000176165-MONOMER.
SIGNORiP55316.

Miscellaneous databases

ChiTaRSiFOXG1. human.
GeneWikiiFOXG1.
GenomeRNAii2290.
PROiP55316.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176165.
CleanExiHS_FOXG1.
GenevisibleiP55316. HS.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. Fork_head_dom.
IPR018122. TF_fork_head_CS_1.
IPR030456. TF_fork_head_CS_2.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00250. Forkhead. 1 hit.
[Graphical view]
PRINTSiPR00053. FORKHEAD.
SMARTiSM00339. FH. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFOXG1_HUMAN
AccessioniPrimary (citable) accession number: P55316
Secondary accession number(s): A6NFY2
, P55315, Q14488, Q86XT7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 10, 2007
Last modified: November 2, 2016
This is version 145 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Caution

PubMed:7959731 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.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.