HES1 (hes family bHLH transcription factor 1)

2007-04-01  

Identity

HGNC
LOCATION
3q29
LOCUSID
ALIAS
HES-1,HHL,HRY,bHLHb39

Other Information

Locus ID:

NCBI: 3280
MIM: 139605
HGNC: 5192
Ensembl: ENSG00000114315

Variants:

dbSNP: 3280
ClinVar: 3280
TCGA: ENSG00000114315
COSMIC: HES1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114315ENST00000232424Q14469

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Notch signaling pathwayKEGGko04330
Maturity onset diabetes of the youngKEGGko04950
Notch signaling pathwayKEGGhsa04330
Maturity onset diabetes of the youngKEGGhsa04950
Fanconi anemia pathwayKEGGko03460
Fanconi anemia pathwayKEGGhsa03460
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by NOTCH1 in CancerREACTOMER-HSA-2644603
Signaling by NOTCH1 PEST Domain Mutants in CancerREACTOMER-HSA-2644602
Constitutive Signaling by NOTCH1 PEST Domain MutantsREACTOMER-HSA-2644606
Signaling by NOTCH1 HD+PEST Domain Mutants in CancerREACTOMER-HSA-2894858
Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsREACTOMER-HSA-2894862
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Signaling by NOTCH1REACTOMER-HSA-1980143
NOTCH1 Intracellular Domain Regulates TranscriptionREACTOMER-HSA-2122947
Signaling by NOTCH2REACTOMER-HSA-1980145
NOTCH2 intracellular domain regulates transcriptionREACTOMER-HSA-2197563
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cellsREACTOMER-HSA-210744
Breast cancerKEGGko05224
Breast cancerKEGGhsa05224

References

Pubmed IDYearTitleCitations
168943952006The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.153
182745502008Loss of intestinal crypt progenitor cells owing to inactivation of both Notch1 and Notch2 is accompanied by derepression of CDK inhibitors p27Kip1 and p57Kip2.149
188215652008Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.133
187192872008Control of the reversibility of cellular quiescence by the transcriptional repressor HES1.110
163650482006Target selectivity of vertebrate notch proteins. Collaboration between discrete domains and CSL-binding site architecture determines activation probability.95
208327542010The Notch/Hes1 pathway sustains NF-κB activation through CYLD repression in T cell leukemia.93
211692572010The Notch target Hes1 directly modulates Gli1 expression and Hedgehog signaling: a potential mechanism of therapeutic resistance.66
125356712003Human Sir2-related protein SIRT1 associates with the bHLH repressors HES1 and HEY2 and is involved in HES1- and HEY2-mediated transcriptional repression.55
155361342004Recruitment of IkappaBalpha to the hes1 promoter is associated with transcriptional repression.53
129726102003Hes6 promotes cortical neurogenesis and inhibits Hes1 transcription repression activity by multiple mechanisms.45

Citation

Dessen P

HES1 (hes family bHLH transcription factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47103/hes1-(hes-family-bhlh-transcription-factor-1)