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 Regulation of beta-cell development. 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.