Aliases for HES1 Gene
External Ids for HES1 Gene
Previous HGNC Symbols for HES1 Gene
Previous GeneCards Identifiers for HES1 Gene
This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008]
GeneCards Summary for HES1 Gene
HES1 (Hes Family BHLH Transcription Factor 1) is a Protein Coding gene. Diseases associated with HES1 include Medulloblastoma and Chromosome 3Q29 Microdeletion Syndrome. Among its related pathways are Fanconi anemia pathway and Signaling by NOTCH1. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is HES4.
UniProtKB/Swiss-Prot for HES1 Gene
Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5-CACNAG-3 with high affinity and on E-box motifs: 5-CANNTG-3 with low affinity (By similarity). May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage.