FOXD1
Description
The FOXD1 (forkhead box D1) is a protein-coding gene located on chromosome 5.
FOXD1 is a protein encoded by the FOXD1 gene in humans. It functions as a transcription factor, specifically expressed in the kidney. Located on chromosome 5, at position 5q12—q13, FOXD1 was initially identified in the Drosophila forkhead protein and mammalian HNF3 transcription factor. The name originates from the two spiked head structures observed in the embryos of Drosophila forkhead mutants. FOXD1 belongs to the forkhead transcription factor family, which exhibits remarkable functional diversity across various biological processes. Common synonyms for FOXD1 include FOX D1, FREAC-4, and BF2.
The Forkhead domain within FOXD1 distinguishes it from other members of the family, except for FREAC-9, also known as FOXD2. The amino acid sequence of the DNA-binding forkhead motif in FREAC-4 shares similarities with FREAC-9, with only 12 substitutions at the nucleotide level. The DNA-binding domain, characterized as a winged helix, encompasses around 100 amino acids, consisting of four helices and two beta-sheets. This domain extends from nucleotide 2521 to 4792. The gene itself is estimated to be approximately 2.5 kilo base pairs, likely containing few introns. Notably, the NH2-terminal region of FOXD1 is highly acidic, while the COOH terminal is rich in prolines, a characteristic shared with transcription factors UBF and WT-1.
FOXD1 is also known as FKHL8, FREAC-4, FREAC4.
Associated Diseases
- hereditary breast ovarian cancer syndrome
- pachyonychia congenita
- breast cancer
- ulnar-mammary syndrome
- nonpapillary renal cell carcinoma
- cancer
