DISEASES

Disease-gene associations mined from literature

Literature associating E2F1 and idiopathic generalized epilepsy 3

E2F1 [ENSP00000345571]

Transcription factor E2F1; Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F1 binds preferentially RB1 in a cell-cycle dependent manner. It can mediate both cell proliferation and TP53/p53-dependent apoptosis. Blocks adipocyte differentiation by binding to specific promoters repressing CEBPA binding to its target gene promoters . Positively regulates transcription of RRP1B . ECO:0000269|PubMed:10675335, ECO:0000269|PubMed:12717439, ECO:0000269|PubMed:17704056, ECO:0000269|PubMed:20040599,; Belongs to the E2F/DP family.

Synonyms:  E2F1,  E2F1p,  hE2F1,  Q01094,  Q01094p ...

Linkouts:  STRING  Pharos  UniProt  OMIM