Mutated genes in cancer (39) – SUFU

SUFU

In databases:

● Entrez (http://www.ncbi.nlm.nih.gov/sites/gquery): 51684 or SUFU

● Ensembl (http://www.ensembl.org/index.html): ENSG00000107882

● UniProt (http://www.uniprot.org/): Q9UMX1

● OMIM (http://www.ncbi.nlm.nih.gov/omim):  607035

● GeneCards (http://www.genecards.org/): SUFU

● HGNC (http://www.genenames.org/): 16466 or SUFU

Gene locus:

10q24.32

Protein name:

Suppressor of fused homolog (Drosophila)

Protein Size:

484 amino acids; about 54 kDa

Function:

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. The protein encoded by SUFU is a negative regulator in this Hedgehog signaling pathway.

Cancer-related alterations:

Genetic alterations in SUFU are a cause of medulloblastoma (MDB), which is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Defects in SUFU play a role in predisposition to desmoplastic MDB. These tumors make up about 20 to 30% of medulloblastomas, have a more nodular architecture than 'classical' medulloblastoma, and may have a better prognosis.

References (open access):

The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins. Humke EW, Dorn KV, Milenkovic L, Scott MP, Rohatgi R. Genes Dev. 2010 Apr 1;24(7):670-82.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2849124/pdf/670.pdf

MicroRNA-378 promotes cell survival, tumor growth, and angiogenesis by targeting SuFu and Fus-1 expression. Lee DY, Deng Z, Wang CH, Yang BB. Proc Natl Acad Sci U S A. 2007 Dec 18;104(51):20350-5.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2154434/pdf/zpq20350.pdf

Identification and analysis of tumor suppressor loci at chromosome 10q23.3-10q25.3 in medulloblastoma. Scott DK, Straughton D, Cole M, Bailey S, Ellison DW, Clifford SC. Cell Cycle. 2006 Oct;5(20):2381-9.

http://www.landesbioscience.com/journals/cc/scottCC5-20.pdf