Human Gene FOXG1 (uc001wqe.4) Description and Page Index
Description: Homo sapiens forkhead box G1 (FOXG1), mRNA. RefSeq Summary (NM_005249): This locus encodes a member of the forked-head transcription factor family. The encoded protein, which functions as a repressor, may play a role in brain development. Mutations at this locus have been associated with Rett syndrome. [provided by RefSeq, Feb 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC035020.2, ERR279867.2446.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr14:29,236,278-29,239,483 Size: 3,206 Total Exon Count: 1 Strand: + Coding Region Position: hg19 chr14:29,236,486-29,237,955 Size: 1,470 Coding Exon Count: 1
ID:FOXG1_HUMAN DESCRIPTION: RecName: Full=Forkhead box protein G1; AltName: Full=Brain factor 1; Short=BF-1; Short=BF1; AltName: Full=Brain factor 2; Short=BF-2; Short=BF2; Short=hBF-2; AltName: Full=Forkhead box protein G1A; AltName: Full=Forkhead box protein G1B; AltName: Full=Forkhead box protein G1C; AltName: Full=Forkhead-related protein FKHL1; Short=HFK1; AltName: Full=Forkhead-related protein FKHL2; Short=HFK2; AltName: Full=Forkhead-related protein FKHL3; Short=HFK3; 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. SUBUNIT: Interacts with KDM5B. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expression is restricted to the neurons of the developing telencephalon. DISEASE: Defects in FOXG1 are the cause of congenital variant of Rett syndrome (RTTCV) [MIM:613454]. RTTCV is 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. SIMILARITY: Contains 1 fork-head DNA-binding domain. 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. WEB RESOURCE: Name=Wikipedia; Note=FOXG1 entry; URL="http://en.wikipedia.org/wiki/FOXG1";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): FOXG1 CDC HuGE Published Literature: FOXG1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P55316
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0043565 sequence-specific DNA binding