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SUFU (human)

Overview 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: Transcription, coactivator/corepressor; Adaptor/scaffold Cellular Component: cytoplasm; nucleolus; nucleus; cilium Molecular Function: signal transducer activity; protein binding; beta-catenin binding; protein kinase binding; transcription corepressor activity; transcription factor binding Biological Process: skin development; cytoplasmic sequestering of transcription factor; multicellular organismal development; negative regulation of transcription factor activity; spinal cord dorsal/ventral patterning; 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 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®

Select Structure to View Below SUFU 1M1L - A/B/C/D=27-262 (human)

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  RCSB PDB  |  Phospho3D  |  DISEASE 155255 607035  |  Source  |  UCSD-Nature  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene

	Sites Implicated In
intracellular localization: S342‑p, S346‑p phosphorylation: S346‑p protein stabilization: S342‑p, S346‑p

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  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.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		T13-p	PSGAPGPtAPPAPGP
0	1		T21-p	APPAPGPtAPPAFAS
0	1		T190	PQMQPVQTPFGVVTF
1	1		K257-u	HLQERVDkGIETDGS
0	1		S267	ETDGSNLSGVSAKCA
0	1		S290-p	EDDEDSRsICIGTQP
0	2		S301-p	GTQPRRLsGkDtEQI
0	1		K303-a	QPRRLsGkDtEQIRE
0	2		T305-p	RRLsGkDtEQIRETL
0	2		K321-u	RGLEINSkPVLPPIN
1	3		S342-p	LAHDRAPsRKDsLEs
1	10		S346-p	RAPsRKDsLEsDSSt
0	3		S349-p	sRKDsLEsDSStAII
0	1		S352	DsLEsDSStAIIPHE
0	2		T353-p	sLEsDSStAIIPHEL
0	4		K457-u	LTSPEEFkLPKEYSW
0	1		S481-p	LPDVVFDsPLH____

	mouse
A13	PSVAPGPAAPPASGP
S21	APPASGPSAPPAFAS
T190-p	PQMQPVRtPFGVVTF
K257	HLQERVDKGIETDGS
S267-p	ETDGSNLsGVSAKCA
S290	EDEEDSRSICLGTQP
S301-p	GTQPRRLsGKDTEQI
K303	QPRRLsGKDTEQIRE
T305	RRLsGKDTEQIRETL
K321	RGLEINSKPVLPPIN
S342-p	LTHDRAPsRKDsLGs
S346-p	RAPsRKDsLGsDSst
S349-p	sRKDsLGsDSstAII
S352-p	DsLGsDSstAIIPHE
T353-p	sLGsDSstAIIPHEL
K457-u	LTSPEEFkLPKEYSW
S481	LPDVVFDSPLH____

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