Preferred Label : Transcription Factor E2F1;
NCIt synonyms : RBAP-1; Transcription Factor E2F; PBR3; RBBP-3; Retinoblastoma Binding Protein 3; Retinoblastoma-Associated Protein 1; Retinoblastoma Associated Protein 1; E2F1; E2F Transcription Factor 1; E2F-1; PRB-Binding Protein E2F-1; Retinoblastoma-Binding Protein 3; E2F Transcription Factor-1;
NCIt definition : Transcription factor E2F1 (437 aa, 47 kDa) is encoded by the human E2F1 gene. This
protein is involved in the regulation of apoptosis, gene transcription, cell cycle
progression and cell proliferation.;
NCIt note : Transcription factor E2F1 binds DNA cooperatively with Dp proteins through the E2
recognition site, 5'-TTTC[CG]CGC-3'. It activates p53 and p73 gene expression. MYC-induced
apoptosis involves E2F1. E2F1 can induce apoptosis in a p53-independent manner by
accumulation of p73 or by a death receptor-dependent mechanism via down regulating
TRAF2 and inhibiting activation of NFKB anti-apoptotic signals. E2F1 induces p53-dependent
apoptosis by inducing ARF, which neutralizes MDM2 and stabilizes p53. E2F is a critical
determinant of G1/S transition, activating transcription of genes necessary for DNA
replication. RB interacts with E2F factors to arrest cells in G1 by active transcriptional
repression. RB/E2F repression mediates G1 arrest triggered by TGFB, by p16(INK4A),
and by contact inhibition. Accumulation of G1 cyclins E and D1 is regulated by E2F1.
TCR-AICD, in a p53-independent late G1 phase cell-cycle checkpoint, is dependent on
E2F1 and TP73. (OMIM and UniProt);
Origin ID : C17546;
UMLS CUI : C1506928;
Currated CISMeF NLP mapping
- OMIM relation
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_affected_by_chemical_or_drug
- gene_product_has_associated_anatomy
- gene_product_has_biochemical_function
- gene_product_has_organism_source
- gene_product_is_element_in_pathway
- gene_product_plays_role_in_biological_process
- is_target
