InnateDB Protein
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IDBP-4180.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FOXG1
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Protein Name
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forkhead box G1
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Synonyms
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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;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000339004
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InnateDB Gene
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IDBG-4178 (FOXG1)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00089, ECO:0000269PubMed:21280142}.
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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.
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Tissue Specificity |
Expression is restricted to the neurons of the developing telencephalon. {ECO:0000269PubMed:7959731}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
14
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
2
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001766
Transcription factor, fork head
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PFAM |
PF00250
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PRINTS |
PR00053
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PIRSF |
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SMART |
SM00339
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TIGRFAMs |
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Modification |
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SwissProt |
P55316
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PhosphoSite |
PhosphoSite-P55316
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
2290
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UniGene |
Hs.741222
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RefSeq |
NP_005240
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HUGO |
HGNC:3811
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OMIM |
164874
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CCDS |
CCDS9636
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HPRD |
01283
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IMGT |
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EMBL |
AL049777
BC050072
CH471078
X74142
X74143
X74144
X78202
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GenPept |
AAH50072
CAA52239
CAA52240
CAA52241
CAA55038
EAW65978
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