| Gene Symbol |
HES1
|
| Entrez Gene |
3280
|
| Alt Symbol |
HES-1, HHL, HRY, bHLHb39
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
hes family bHLH transcription factor 1
|
| Other Description |
class B basic helix-loop-helix protein 39|hairy homolog|hairy-like protein|transcription factor HES-1
|
| Swissprots |
Q14469 Q6FHB2
|
| Accessions |
AAA65220 EAW78058 Q14469 AF264785 AAF73060 AI370424 AK000415 BAA91149 AK300482 BAG62198 BC005178 AAH05178 BC039152 AAH39152 BC156516 AAI56517 BC172546 AAI72546 CR541843 CAG46641 DQ891328 ABM82254 DQ893354 ABM84280 DQ896673 ABM87672 DW424342 NM_005524 NP_005515
|
| Function |
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. {ECO:0000250, ECO:0000269|PubMed:18550849}.
|
| Subcellular Location |
Nucleus.
|
| Top Pathways |
Notch signaling pathway, Maturity onset diabetes of the young, Fanconi anemia pathway
|