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SUFU 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: Adaptor/scaffold; Transcription, coactivator/corepressor; Tumor suppressor
Chromosomal Location of Human Ortholog: 10q24.32
Cellular Component: cytoplasm; cytosol; nucleus
Molecular Function: protein binding; protein kinase binding; signal transducer activity; transcription corepressor activity; transcription factor binding
Biological Process: cytoplasmic sequestering of transcription factor; multicellular organismal development; negative regulation of osteoblast differentiation; negative regulation of smoothened signaling pathway; negative regulation of transcription factor activity; negative regulation of transcription factor import into nucleus; negative regulation of transcription from RNA polymerase II promoter; proteolysis; regulation of transcription, DNA-dependent; signal transduction; skeletal development
Disease: Basal Cell Nevus Syndrome; Medulloblastoma; Meningioma, Familial, Susceptibility To
Reference #:  Q9UMX1 (UniProtKB)
Alt. Names/Synonyms: PRO1280; SUFU; SUFUH; SUFUXL; Suppressor of fused homolog; suppressor of fused homolog (Drosophila)
Gene Symbols: SUFU
Molecular weight: 53,947 Da
Basal Isoelectric point: 5.16  Predict pI for various phosphorylation states
CST Pathways:  Hedgehog Signaling
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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