SUFU

SUFU
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1M1L, 4BL8, 4BL9, 4BLA, 4BLB, 4BLD, 4KM8, 4KM9, 4KMD, 4KMH
Identifiers
Aliases	SUFU, PRO1280, SUFUH, SUFUXL, SUFU negative regulator of hedgehog signaling, JBTS32
External IDs	OMIM: 607035; MGI: 1345643; HomoloGene: 9262; GeneCards: SUFU; OMA:SUFU - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	102,633,535 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	46,477,243 bp
RNA expression pattern
	Top expressed in
	skin of arm; ; nipple; ; body of tongue; ; vein; ; stromal cell of endometrium; ; synovial membrane; ; mucosa of pharynx; ; saphenous vein; ; trigeminal ganglion; ; internal globus pallidus;
	Top expressed in
	otic vesicle; ; seminiferous tubule; ; saccule; ; otic placode; ; secondary oocyte; ; zygote; ; primary oocyte; ; spermatogonium; ; epiblast; ; yolk sac;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	beta-catenin binding; transcription corepressor activity; transcription factor binding; signal transducer activity; protein binding; protein kinase binding;
Cellular component	cytosol; cilium; ciliary base; ciliary tip; nucleus; cytoplasm;
Biological process	skeletal system development; regulation of transcription, DNA-templated; ventricular septum development; smoothened signaling pathway involved in ventral spinal cord interneuron specification; negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning; spinal cord dorsal/ventral patterning; negative regulation of transcription by RNA polymerase II; coronary vasculature development; negative regulation of DNA-binding transcription factor activity; negative regulation of osteoblast differentiation; proteolysis; heart looping; aorta development; neural tube closure; determination of left/right symmetry; smoothened signaling pathway involved in spinal cord motor neuron cell fate specification; negative regulation of ubiquitin-dependent protein catabolic process; signal transduction; skin development; multicellular organism development; cytoplasmic sequestering of transcription factor; negative regulation of protein import into nucleus; negative regulation of smoothened signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	51684
	24069
	ENSG00000107882
	ENSMUSG00000025231
	Q9UMX1
	Q9Z0P7
	NM_001178133; NM_016169
	NM_001025391; NM_015752
	NP_001171604; NP_057253
	NP_001020562; NP_056567
	Wikidata
View/Edit Human	View/Edit Mouse

Suppressor of fused homolog is a protein that in humans is encoded by the SUFU gene.^[5]^[6]

Function

SUFU encodes a component of the sonic hedgehog (SHH) / patched (PTCH) signaling pathway. Mutations in genes encoding components of this pathway are deleterious for normal development and are associated with cancer-predisposing syndromes (e.g., holoprosencephaly, HPE3; basal cell nevus syndrome, BCNS; and Greig cephalopolysyndactyly syndrome; GCPS).^[6]

Interactions

SUFU has been shown to interact with GLI1,^[7]^[8]^[9] GLI3^[10] and PEX26.^[11]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000107882 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025231 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Merchant M, Vajdos FF, Ultsch M, Maun HR, Wendt U, Cannon J, Desmarais W, Lazarus RA, de Vos AM, de Sauvage FJ (Sep 2004). "Suppressor of fused regulates Gli activity through a dual binding mechanism". Mol Cell Biol. 24 (19): 8627–41. doi:10.1128/MCB.24.19.8627-8641.2004. PMC 516763. PMID 15367681.
^ ^a ^b "Entrez Gene: SUFU suppressor of fused homolog (Drosophila)".
^ Stone DM, Murone M, Luoh S, Ye W, Armanini MP, Gurney A, Phillips H, Brush J, Goddard A, de Sauvage FJ, Rosenthal A (December 1999). "Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli". J. Cell Sci. 112 (23): 4437–48. PMID 10564661.
^ Kogerman P, Grimm T, Kogerman L, Krause D, Undén AB, Sandstedt B, Toftgård R, Zaphiropoulos PG (September 1999). "Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1". Nat. Cell Biol. 1 (5): 312–9. doi:10.1038/13031. PMID 10559945.
^ Dunaeva M, Michelson P, Kogerman P, Toftgard R (February 2003). "Characterization of the physical interaction of Gli proteins with SUFU proteins". J. Biol. Chem. 278 (7): 5116–22. doi:10.1074/jbc.M209492200. PMID 12426310.{{cite journal}}: CS1 maint: unflagged free DOI (link)
^ Humke EW, Dorn KV, Milenkovic L, Scott MP, Rohatgi R (April 2010). "The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins". Genes Dev. 24 (7): 670–82. doi:10.1101/gad.1902910. PMC 2849124. PMID 20360384.
^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.

Kogerman P, Grimm T, Kogerman L, et al. (1999). "Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1". Nat. Cell Biol. 1 (5): 312–9. doi:10.1038/13031. PMID 10559945.
Stone DM, Murone M, Luoh S, et al. (2000). "Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli". J. Cell Sci. 112 (23): 4437–48. PMID 10564661.
Murone M, Luoh SM, Stone D, et al. (2000). "Gli regulation by the opposing activities of fused and suppressor of fused". Nat. Cell Biol. 2 (5): 310–2. doi:10.1038/35010610. PMID 10806483.
Delattre M, Briand S, Paces-Fessy M, Blanchet-Tournier MF (2001). "The Suppressor of fused gene, involved in Hedgehog signal transduction in Drosophila, is conserved in mammals". Dev. Genes Evol. 209 (5): 294–300. doi:10.1007/s004270050255. PMID 11252182.
Cheng SY, Bishop JM (2002). "Suppressor of Fused represses Gli-mediated transcription by recruiting the SAP18-mSin3 corepressor complex". Proc. Natl. Acad. Sci. U.S.A. 99 (8): 5442–7. doi:10.1073/pnas.082096999. PMC 122788. PMID 11960000.
Taylor MD, Liu L, Raffel C, et al. (2002). "Mutations in SUFU predispose to medulloblastoma". Nat. Genet. 31 (3): 306–10. doi:10.1038/ng916. PMID 12068298.
Dunaeva M, Michelson P, Kogerman P, Toftgard R (2003). "Characterization of the physical interaction of Gli proteins with SUFU proteins". J. Biol. Chem. 278 (7): 5116–22. doi:10.1074/jbc.M209492200. PMID 12426310.{{cite journal}}: CS1 maint: unflagged free DOI (link)
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
Paces-Fessy M, Boucher D, Petit E, et al. (2004). "The negative regulator of Gli, Suppressor of fused (Sufu), interacts with SAP18, Galectin3 and other nuclear proteins". Biochem. J. 378 (Pt 2): 353–62. doi:10.1042/BJ20030786. PMC 1223961. PMID 14611647.
Taylor MD, Zhang X, Liu L, et al. (2004). "Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signaling". Oncogene. 23 (26): 4577–83. doi:10.1038/sj.onc.1207605. PMID 15077159.
Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Lyle R, Radhakrishna U, Blouin JL, et al. (2006). "Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region". Am. J. Med. Genet. A. 140 (13): 1384–95. doi:10.1002/ajmg.a.31247. PMID 16691619.

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000107882 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025231 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid15367681-5] Merchant M, Vajdos FF, Ultsch M, Maun HR, Wendt U, Cannon J, Desmarais W, Lazarus RA, de Vos AM, de Sauvage FJ (Sep 2004). "Suppressor of fused regulates Gli activity through a dual binding mechanism". Mol Cell Biol. 24 (19): 8627–41. doi:10.1128/MCB.24.19.8627-8641.2004. PMC 516763. PMID 15367681.

[entrez-6] "Entrez Gene: SUFU suppressor of fused homolog (Drosophila)".

[pmid10564661-7] Stone DM, Murone M, Luoh S, Ye W, Armanini MP, Gurney A, Phillips H, Brush J, Goddard A, de Sauvage FJ, Rosenthal A (December 1999). "Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli". J. Cell Sci. 112 (23): 4437–48. PMID 10564661.

[pmid10559945-8] Kogerman P, Grimm T, Kogerman L, Krause D, Undén AB, Sandstedt B, Toftgård R, Zaphiropoulos PG (September 1999). "Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1". Nat. Cell Biol. 1 (5): 312–9. doi:10.1038/13031. PMID 10559945.

[pmid12426310-9] Dunaeva M, Michelson P, Kogerman P, Toftgard R (February 2003). "Characterization of the physical interaction of Gli proteins with SUFU proteins". J. Biol. Chem. 278 (7): 5116–22. doi:10.1074/jbc.M209492200. PMID 12426310.{{cite journal}}: CS1 maint: unflagged free DOI (link)

[pmid20360384-10] Humke EW, Dorn KV, Milenkovic L, Scott MP, Rohatgi R (April 2010). "The output of Hedgehog signaling is controlled by the dynamic association between Suppressor of Fused and the Gli proteins". Genes Dev. 24 (7): 670–82. doi:10.1101/gad.1902910. PMC 2849124. PMID 20360384.

[pmid16189514-11] Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.

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Function

Interactions

References

Further reading