Forkhead box protein E1
| Forkhead box protein E1 | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 371 aa; 37.9 kDa | |
| Identifier | ||
| Gene names | FOXE1 ; FKHL15, TTF-2, TITF2 | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Chordates | |
| Orthologue | ||
| human | mouse | |
| Entrez | 2304 | 110805 |
| Ensemble | ENSG00000178919 | ENSMUSG00000070990 |
| UniProt | O00358 | Q8R2I0 |
| Refseq (mRNA) | NM_004473 | XM_975742 |
| Refseq (protein) | NP_004464 | XP_980836 |
| Gene locus | Chr 9: 99.66 - 99.66 Mb | Chr 4: 46.37 - 46.37 Mb |
| PubMed search | 2304 |
110805
|
The forkhead box protein E1 (FOXE1) , also known as thyroid transcription factor 2 (TTF-2) , is a protein that, as a transcription factor , controls, among other things, the transcription of certain genes in the thyroid . The gene FOXE1 coding for the FOXE1 protein belongs to the family of the forkhead box genes. FOXE1 has been detected not only in humans but also in a wide variety of animal species.
Structure and function
The protein, which is 371 amino acids long in humans and located in the cell nucleus , contains in its amino acid sequence a 95 amino acid long fork head domain through which FOXE1 can bind to specific DNA sequence segments. This DNA binding is a prerequisite for controlling the transcription of other genes; so controlled FOXE1 inter alia, in the thyroid gland, the gene expression of the gene for the enzyme thyroid peroxidase .
Knockout mice completely lacking FOXE1 show a cleft palate and a partially or completely missing thyroid gland; usually these mice die soon after birth. It was concluded that these mice could be a model for congenital hypothyroidism in humans. However, only in rare cases have human geneticists been able to link mutations in the FOXE1 gene with congenital hypothyroidism.
evolution
Within the large Forkheadbox gene family, FOXE1 belongs to the FOXE group, together with the paralog genes FOXE2 and FOXE3 . However, only FOXE1 is active in the thyroid; the other genes are expressed in the eye and in the brain, among others.
FoxE1 was originally identified in the rat, but was soon found in many vertebrate species. Even in simpler chordates such as the lancet fish or the sea squirt , forkheadbox genes related to FOXE1 could be found, which are expressed in these invertebrates in the endostyle ; the endostyle is considered to be homologous to the vertebrate thyroid.
Individual evidence
- ^ I. Cuesta, KS Zaret, P. Santisteban: The forkhead factor FoxE1 binds to the thyroperoxidase promoter during thyroid cell differentiation and modifies compacted chromatin structure. In: Mol Cell Biol. 27 (20), Oct 2007, pp. 7302-7314. PMID 17709379
- ↑ M. De Felice, C. Ovitt, E. Biffali, A. Rodriguez-Mallon, C. Arra, K. Anastassiadis, PE Macchia, MG Mattei, A. Mariano, H. Schöler, V. Macchia, R. Di Lauro : A mouse model for hereditary thyroid dysgenesis and cleft palate. In: Nat Genet. 19 (4), Aug 1998, pp. 395-398. PMID 9697704
- ↑ SM Park, VK Chatterjee: Genetics of congenital hypothyroidism. In: J Med Genet. 42 (5), May 2005, pp. 379-389. PMID 15863666
- ↑ J. Hiruta, F. Mazet, K. Yasui, P. Zhang, M. Ogasawara: Comparative expression analysis of transcription factor genes in the endostyle of invertebrate chordates. In: Dev Dyn. 233 (3), Jul 2005, pp. 1031-1037. PMID 15861404
Web links
- FOXE1 forkhead box E1 [Homo sapiens (human)]. NCBI Entrez Gene