Description: Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA. RefSeq Summary (NM_005524): 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]. Transcript (Including UTRs) Position: hg19 chr3:193,853,931-193,856,401 Size: 2,471 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr3:193,854,170-193,856,022 Size: 1,853 Coding Exon Count: 4
ID:HES1_HUMAN DESCRIPTION: RecName: Full=Transcription factor HES-1; AltName: Full=Class B basic helix-loop-helix protein 39; Short=bHLHb39; AltName: Full=Hairy and enhancer of split 1; AltName: Full=Hairy homolog; AltName: Full=Hairy-like protein; Short=hHL; 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. SUBUNIT: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family. Interacts (via WPRW motif) with TLE1, and more weakly with TLE2. Interacts with HES6 (By similarity). Interacts with SIRT1. Interacts with an FA complex, composed of FANCA, FANCF, FANCG and FANCL, but not of FANCC, nor FANCE. INTERACTION: Q96EB6:SIRT1; NbExp=4; IntAct=EBI-2832522, EBI-1802965; SUBCELLULAR LOCATION: Nucleus. DOMAIN: Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG). DOMAIN: The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins (By similarity). DOMAIN: The bHLH, as well as cooperation between the central Orange domain and the C-terminal WRPW motif, is required for transcriptional repressor activity (By similarity). SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain. SIMILARITY: Contains 1 Orange domain.
attention deficit hyperactivity disorder Brookes, K. et al et al. 2006, The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder, Mol Psychiatry 2006 11(10) 934-53.
[PubMed 16894395]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14469
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
