GENE NAME | HES1 |
CHROMOSOME | 3 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000114315 |
UNIPROT ACCESSION NUMBER | Q14469 |
GO MOLECULAR FUNCTION | ['sequence-specific DNA binding', 'chaperone binding', 'chromatin binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'JUN kinase binding', 'E-box binding', 'DNA binding', 'HLH domain binding', 'protein-containing complex binding', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'transcription corepressor binding', 'protein binding', 'sequence-specific double-stranded DNA binding', 'N-box binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'protein homodimerization activity', 'histone deacetylase binding', 'DNA-binding transcription repressor activity, RNA polymerase II-specific'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa03460; hsa04330; hsa04950; hsa05165; hsa05169; hsa05200; hsa05224; R-HSA-1266738; R-HSA-157118; R-HSA-162582; R-HSA-1643685; R-HSA-186712; R-HSA-1980143; R-HSA-1980145; R-HSA-210744; R-HSA-2122947; R-HSA-212436; R-HSA-2197563; R-HSA-2644602; R-HSA-2644603; R-HSA-2644606; R-HSA-2894858; R-HSA-2894862; R-HSA-5663202; R-HSA-73857; R-HSA-74160; R-HSA-8878159; R-HSA-8878166; R-HSA-8940973; R-HSA-8941326; R-HSA-8941856; R-HSA-9012852; R-HSA-9013508; R-HSA-9013694; R-HSA-9013695 |
2 combinations linked to HES1 | OLI1091; OLI1505 |
2 variants linked to HES1 | HES1:c.816C>G, p.Asp272Glu; HES1:c.816C>A, p.Asp272Glu |
1 disease linked to HES1 | Congenital hypothyroidism |