Details for Gene HES1

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

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