Homo sapiens Protein: FOXG1
Summary
InnateDB Protein IDBP-4180.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FOXG1
Protein Name forkhead box G1
Synonyms 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;
Species Homo sapiens
Ensembl Protein ENSP00000339004
InnateDB Gene IDBG-4178 (FOXG1)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:12657635}.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00089, ECO:0000269PubMed:21280142}.
Disease Associations 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. {ECO:0000269PubMed:19578037, ECO:0000269PubMed:21280142}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expression is restricted to the neurons of the developing telencephalon. {ECO:0000269PubMed:7959731}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 14 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007420 brain development
GO:0007568 aging
GO:0045892 negative regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR001766 Transcription factor, fork head
PFAM PF00250
PRINTS PR00053
PIRSF
SMART SM00339
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P55316
PhosphoSite PhosphoSite-P55316
TrEMBL
UniProt Splice Variant
Entrez Gene 2290
UniGene Hs.741222
RefSeq NP_005240
HUGO HGNC:3811
OMIM 164874
CCDS CCDS9636
HPRD 01283
IMGT
EMBL AL049777 BC050072 CH471078 X74142 X74143 X74144 X78202
GenPept AAH50072 CAA52239 CAA52240 CAA52241 CAA55038 EAW65978