SUFU (SUFU negative regulator of hedgehog signaling)

2003-02-01  

Identity

HGNC
LOCATION
10q24.32
LOCUSID
ALIAS
JBTS32,PRO1280,SUFUH,SUFUXL
FUSION GENES

Other Information

Locus ID:

NCBI: 51684
MIM: 607035
HGNC: 16466
Ensembl: ENSG00000107882

Variants:

dbSNP: 51684
ClinVar: 51684
TCGA: ENSG00000107882
COSMIC: SUFU

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107882ENST00000369899Q9UMX1
ENSG00000107882ENST00000369902Q9UMX1
ENSG00000107882ENST00000423559Q9UMX1

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Hedgehog signaling pathwayKEGGko04340
Basal cell carcinomaKEGGko05217
Hedgehog signaling pathwayKEGGhsa04340
Pathways in cancerKEGGhsa05200
Basal cell carcinomaKEGGhsa05217
Hedgehog signalingKEGGhsa_M00678
Hedgehog signalingKEGGM00678
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787
GLI3 is processed to GLI3R by the proteasomeREACTOMER-HSA-5610785
Degradation of GLI2 by the proteasomeREACTOMER-HSA-5610783
Degradation of GLI1 by the proteasomeREACTOMER-HSA-5610780
Hedgehog 'on' stateREACTOMER-HSA-5632684

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
180773752007MicroRNA-378 promotes cell survival, tumor growth, and angiogenesis by targeting SuFu and Fus-1 expression.210
120682982002Mutations in SUFU predispose to medulloblastoma.205
119600002002Suppressor of Fused represses Gli-mediated transcription by recruiting the SAP18-mSin3 corepressor complex.75
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
195338012009Identification of a SUFU germline mutation in a family with Gorlin syndrome.50
213172892011Dual Phosphorylation of suppressor of fused (Sufu) by PKA and GSK3beta regulates its stability and localization in the primary cilium.49
254032192014Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.44
229589022012Loss of SUFU function in familial multiple meningioma.35
212099122010Coordinated translocation of mammalian Gli proteins and suppressor of fused to the primary cilium.34
189978152009Hedgehog signaling promotes the degradation of tumor suppressor Sufu through the ubiquitin-proteasome pathway.33

Citation

Dessen P

SUFU (SUFU negative regulator of hedgehog signaling)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42447/sufu