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Entry version 166 (16 Oct 2019)
Sequence version 2 (10 Jul 2007)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi181 – 275Fork-headPROSITE-ProRule annotationAdd BLAST95

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-9022692 Regulation of MECP2 expression and activity
R-HSA-9617828 FOXO-mediated transcription of cell cycle genes

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P55316

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FOXG1
Synonyms:FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3811 FOXG1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
164874 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P55316

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Rett syndrome congenital variant (RTTCV)3 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063885215F → L in RTTCV. 1 PublicationCorresponds to variant dbSNP:rs267606828EnsemblClinVar.1
Natural variantiVAR_078716217 – 489Missing in RTTCV. 1 PublicationAdd BLAST273
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 dbSNP:rs786205009EnsemblClinVar.1
Natural variantiVAR_078718396 – 489Missing in RTTCV. 1 PublicationAdd BLAST94

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
2290

MalaCards human disease database

More...
MalaCardsi
FOXG1
MIMi613454 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000176165

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
261229 14q11.2 microduplication syndrome
261144 14q12 microdeletion syndrome
3095 Atypical Rett syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162388806

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P55316

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FOXG1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
152031604

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000918351 – 489Forkhead box protein G1Add BLAST489

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P55316

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P55316

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P55316

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P55316

PeptideAtlas

More...
PeptideAtlasi
P55316

PRoteomics IDEntifications database

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PRIDEi
P55316

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
56844

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P55316

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P55316

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000176165 Expressed in 89 organ(s), highest expression level in cerebral cortex

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P55316 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with KDM5B.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108580, 81 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P55316

Protein interaction database and analysis system

More...
IntActi
P55316, 65 interactors

Molecular INTeraction database

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MINTi
P55316

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000339004

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P55316

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni383 – 406Interaction with KDM5B1 PublicationAdd BLAST24

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi33 – 57His-richAdd BLAST25
Compositional biasi58 – 112Pro-richAdd BLAST55
Compositional biasi118 – 177Gly-richAdd BLAST60

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2294 Eukaryota
COG5025 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160678

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112629

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P55316

KEGG Orthology (KO)

More...
KOi
K09385

Identification of Orthologs from Complete Genome Data

More...
OMAi
MSYSTML

Database of Orthologous Groups

More...
OrthoDBi
1270467at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P55316

TreeFam database of animal gene trees

More...
TreeFami
TF316127

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00059 FH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001766 Fork_head_dom
IPR018122 TF_fork_head_CS_1
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00250 Forkhead, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00053 FORKHEAD

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00339 FH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46785 SSF46785, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00657 FORK_HEAD_1, 1 hit
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i897945F9CE4F2A71
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 → L1 PublicationCorresponds to variant dbSNP:rs398124203EnsemblClinVar.1
Natural variantiVAR_078715191M → R Found in a patient with developmental delay with seizures and mild developmental delay; unknown pathological significance. 1 Publication1
Natural variantiVAR_063885215F → L in RTTCV. 1 PublicationCorresponds to variant dbSNP:rs267606828EnsemblClinVar.1
Natural variantiVAR_078716217 – 489Missing in RTTCV. 1 PublicationAdd BLAST273
Natural variantiVAR_078717232N → S Probable disease-associated mutation found in a patient with developmental delay. 1 Publication1
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 dbSNP:rs786205009EnsemblClinVar.1
Natural variantiVAR_078718396 – 489Missing in RTTCV. 1 PublicationAdd BLAST94

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS9636.1

Protein sequence database of the Protein Information Resource

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PIRi
B54743
I37451

NCBI Reference Sequences

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RefSeqi
NP_005240.3, NM_005249.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000313071; ENSP00000339004; ENSG00000176165

Database of genes from NCBI RefSeq genomes

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GeneIDi
2290

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2290

UCSC genome browser

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UCSCi
uc001wqe.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

SMRiP55316
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108580, 81 interactors
CORUMiP55316
IntActiP55316, 65 interactors
MINTiP55316
STRINGi9606.ENSP00000339004

PTM databases

iPTMnetiP55316
PhosphoSitePlusiP55316

Polymorphism and mutation databases

BioMutaiFOXG1
DMDMi152031604

Proteomic databases

jPOSTiP55316
MassIVEiP55316
MaxQBiP55316
PaxDbiP55316
PeptideAtlasiP55316
PRIDEiP55316
ProteomicsDBi56844

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2290
DisGeNETi2290

GeneCards: human genes, protein and diseases

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GeneCardsi
FOXG1
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

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2294 Eukaryota
COG5025 LUCA
GeneTreeiENSGT00940000160678
HOGENOMiHOG000112629
InParanoidiP55316
KOiK09385
OMAiMSYSTML
OrthoDBi1270467at2759
PhylomeDBiP55316
TreeFamiTF316127

Enzyme and pathway databases

ReactomeiR-HSA-9022692 Regulation of MECP2 expression and activity
R-HSA-9617828 FOXO-mediated transcription of cell cycle genes
SIGNORiP55316

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
FOXG1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
FOXG1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
2290
PharosiP55316

Protein Ontology

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PROi
PR:P55316

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000176165 Expressed in 89 organ(s), highest expression level in cerebral cortex
GenevisibleiP55316 HS

Family and domain databases

CDDicd00059 FH, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR001766 Fork_head_dom
IPR018122 TF_fork_head_CS_1
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00250 Forkhead, 1 hit
PRINTSiPR00053 FORKHEAD
SMARTiView protein in SMART
SM00339 FH, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS00657 FORK_HEAD_1, 1 hit
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFOXG1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P55316
Secondary accession number(s): A6NFY2
, P55315, Q14488, Q86XT7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 10, 2007
Last modified: October 16, 2019
This is version 166 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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