description
Mutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increase in NOTCH1 transcriptional activity and PEST domain mutations alone result in up to ~2-fold increase in NOTCH1 transcriptional activity, in cis mutations of HD and PEST domains act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold (Weng et al. 2004)

external resources
NCBI:1268890
REACTOME:R-HSA-2894858
PUBMED:15472075

genes
ADAM10 , JAG1 , CCNC , CDK8 , CREBBP , EP300 , KAT2A , HDAC1 , HDAC2 , HES1 , RBPJ , JAG2 , MYC , NOTCH1 , PSEN2 , RPS27A , SKP1 , ADAM17 , TBL1X , UBA52 , UBB , UBC , CUL1 , HDAC3 , KAT2B , NEURL1 , NCOR1 , NCOR2 , HDAC9 , HDAC4 , MAML1 , RBX1 , HDAC6 , HDAC5 , MAMLD1 , SNW1 , NCSTN , HEY1 , HEY2 , HEYL , DLL1 , APH1A , HDAC7 , NEURL1B , DLL4 , FBXW7 , MAML3 , PSENEN , HDAC8 , MIB1 , TBL1XR1 , HDAC11 , APH1B , HDAC10 , MAML2 , MIB2 , HES5 , MIR1281 ,