a transcriptional regulator which negatively regulates the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. Modulates nuclear-cytoplasmic shuttling of Gli-1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of FUSED to both SUFU and a GLI protein. Mutations in SUFU predispose to medulloblastoma. Part of a DNA-bound corepressor complex containing SAP18, GLI1 and SIN3. Part of a complex containing CTNNB1. Binds BTRC, GLI2, GLI3, SAP18 and STK36. Binds both free and DNA-bound GLI1. Defects in SUFU are a cause of medulloblastoma (MDB). MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Three alternatively spliced isoforms have been described. Note: This description may include information from UniProtKB.
Protein type: Transcription, coactivator/corepressor; Adaptor/scaffold
Chromosomal Location of Human Ortholog: 10q24.32
Cellular Component: cytoplasm; nucleolus; nucleus
Molecular Function: signal transducer activity; protein binding; beta-catenin binding; protein kinase binding; transcription factor binding; transcription corepressor activity
Biological Process: skin development; cytoplasmic sequestering of transcription factor; negative regulation of transcription factor activity; multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; signal transduction; negative regulation of transcription factor import into nucleus; proteolysis; regulation of transcription, DNA-dependent; negative regulation of smoothened signaling pathway; neural tube closure; negative regulation of osteoblast differentiation; heart looping; skeletal development; smoothened signaling pathway involved in ventral spinal cord interneuron specification; smoothened signaling pathway involved in spinal cord motor neuron cell fate specification
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.