SUFU

SUFU
Estructuras disponibles
PDB	Búsqueda ortóloga: PDBe RCSB
Lista de codigos id de PDB
	1M1L, 4BL8, 4BL9, 4BLA, 4BLB, 4BLD, 4KM8, 4KM9, 4KMD, 4KMH
Identificadores
Alias	SUFU, PRO1280, SUFUH, SUFUXL, SUFU negative regulator of hedgehog signaling, JBTS32
IDs externos	OMIM: 607035 MGI: 1345643 HomoloGene: 9262 GeneCards: SUFU
Enfermedades genéticamente relacionadas
	Joubert syndrome 32, cerebellar medulloblastoma
Ontología génica
Función molecular	• beta-catenin binding; • GO:0001106 transcription corepressor activity; • transcription factor binding; • signal transducer activity; • GO:0001948, GO:0016582 unión a proteína plasmática; • protein kinase binding;
Componente celular	• citosol; • cilio; • ciliary base; • ciliary tip; • núcleo celular; • citoplasma;
Proceso biológico	• desarrollo del esqueleto; • GO:0009373 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; • GO:1901227 negative regulation of transcription by RNA polymerase II; • coronary vasculature development; • negative regulation of DNA-binding transcription factor activity; • negative regulation of osteoblast differentiation; • proteólisis; • 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; • GO:0072468 transducción de señal; • skin development; • desarrollo de organismo multicelular; • cytoplasmic sequestering of transcription factor; • negative regulation of protein import into nucleus; • negative regulation of smoothened signaling pathway;
	Fuentes: Amigo / QuickGO
Patrón de la expressión del ARN
	Más referencias a datos de expressión
Ortólogos
	51684
	24069
	ENSG00000107882
	ENSMUSG00000025231
	Q9UMX1
	Q9Z0P7
	NM_001178133; NM_016169
	NM_001025391; NM_015752
	NP_001171604; NP_057253
	NP_001020562; NP_056567
	Wikidata
Ver/Editar Humano	Ver/Editar Ratón

El supresor de homólogo fusionado es una proteína que en humanos está codificada por el gen SUFU.^[4]^[5]

Función

SUFU codifica un componente de la vía de señalización de sonic hedgehog (SHH) / patched (PTCH). Las mutaciones en los genes que codifican los componentes de esta vía son perjudiciales para el desarrollo normal y se asocian con síndromes que predisponen al cáncer (p. ej., holoprosencefalia, síndrome de nevus de células basales y síndrome de cefalopolisíndactilo de Greig).^[5]

Interacciones

Se ha demostrado que SUFU interactúa con GLI1,^[6]^[7]^[8] GLI3^[9] y PEX26.^[10]

Referencias

↑ «Diseases that are genetically associated with SUFU view/edit references on wikidata».
↑ «Human PubMed Reference:».
↑ «Mouse PubMed Reference:».
↑ «Suppressor of fused regulates Gli activity through a dual binding mechanism». Mol Cell Biol 24 (19): 8627-41. Sep 2004. PMC 516763. PMID 15367681. doi:10.1128/MCB.24.19.8627-8641.2004.
1 2 «Entrez Gene: SUFU suppressor of fused homolog (Drosophila)».
↑ «Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli». J. Cell Sci. 112 (23): 4437-48. December 1999. PMID 10564661.
↑ «Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1». Nat. Cell Biol. 1 (5): 312-9. September 1999. PMID 10559945. doi:10.1038/13031.
↑ «Characterization of the physical interaction of Gli proteins with SUFU proteins». J. Biol. Chem. 278 (7): 5116-22. February 2003. PMID 12426310. doi:10.1074/jbc.M209492200.
↑ «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. April 2010. PMC 2849124. PMID 20360384. doi:10.1101/gad.1902910.
↑ «Towards a proteome-scale map of the human protein-protein interaction network». Nature 437 (7062): 1173-8. October 2005. PMID 16189514. doi:10.1038/nature04209.

Otras lecturas

Kogerman P, Grimm T, Kogerman L, etal (1999). «Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1». Nat. Cell Biol. 1 (5): 312-9. PMID 10559945. doi:10.1038/13031.
Stone DM, Murone M, Luoh S, etal (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, etal (2000). «Gli regulation by the opposing activities of fused and suppressor of fused». Nat. Cell Biol. 2 (5): 310-2. PMID 10806483. doi:10.1038/35010610.
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. PMID 11252182. doi:10.1007/s004270050255.
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. PMC 122788. PMID 11960000. doi:10.1073/pnas.082096999.
Taylor MD, Liu L, Raffel C, etal (2002). «Mutations in SUFU predispose to medulloblastoma». Nat. Genet. 31 (3): 306-10. PMID 12068298. doi:10.1038/ng916.
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. PMID 12426310. doi:10.1074/jbc.M209492200.
Strausberg RL, Feingold EA, Grouse LH, etal (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. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899.
Clark HF, Gurney AL, Abaya E, etal (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. PMC 403697. PMID 12975309. doi:10.1101/gr.1293003.
Paces-Fessy M, Boucher D, Petit E, etal (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. PMC 1223961. PMID 14611647. doi:10.1042/BJ20030786.
Taylor MD, Zhang X, Liu L, etal (2004). «Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signaling». Oncogene 23 (26): 4577-83. PMID 15077159. doi:10.1038/sj.onc.1207605.
Deloukas P, Earthrowl ME, Grafham DV, etal (2004). «The DNA sequence and comparative analysis of human chromosome 10». Nature 429 (6990): 375-81. PMID 15164054. doi:10.1038/nature02462.
Gerhard DS, Wagner L, Feingold EA, etal (2004). «The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)». Genome Res. 14 (10B): 2121-7. PMC 528928. PMID 15489334. doi:10.1101/gr.2596504.
Rual JF, Venkatesan K, Hao T, etal (2005). «Towards a proteome-scale map of the human protein-protein interaction network». Nature 437 (7062): 1173-8. PMID 16189514. doi:10.1038/nature04209.
Lyle R, Radhakrishna U, Blouin JL, etal (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. PMID 16691619. doi:10.1002/ajmg.a.31247.

Enlaces externos

En HomoloGene: SUFU

En ‘Genome':SUFU
En MalaCards.Enfermedades que coinciden con:SUFU
En Estudio de asociación del genoma completo (GWAS) SUFU

Esta obra contiene una traducción derivada de «SUFU» de Wikipedia en inglés, concretamente de esta versión del 22 mar 2019, publicada por sus editores bajo la Licencia de documentación libre de GNU y la Licencia Creative Commons Atribución-CompartirIgual 4.0 Internacional.

Datos: Q17145556

[1] «Diseases that are genetically associated with SUFU view/edit references on wikidata».

[2] «Human PubMed Reference:».

[3] «Mouse PubMed Reference:».

[pmid15367681-4] «Suppressor of fused regulates Gli activity through a dual binding mechanism». Mol Cell Biol 24 (19): 8627-41. Sep 2004. PMC 516763. PMID 15367681. doi:10.1128/MCB.24.19.8627-8641.2004.

[entrez-5] 1 2 «Entrez Gene: SUFU suppressor of fused homolog (Drosophila)».

[pmid10564661-6] «Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli». J. Cell Sci. 112 (23): 4437-48. December 1999. PMID 10564661.

[pmid10559945-7] «Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1». Nat. Cell Biol. 1 (5): 312-9. September 1999. PMID 10559945. doi:10.1038/13031.

[pmid12426310-8] «Characterization of the physical interaction of Gli proteins with SUFU proteins». J. Biol. Chem. 278 (7): 5116-22. February 2003. PMID 12426310. doi:10.1074/jbc.M209492200.

[pmid20360384-9] «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. April 2010. PMC 2849124. PMID 20360384. doi:10.1101/gad.1902910.

[pmid16189514-10] «Towards a proteome-scale map of the human protein-protein interaction network». Nature 437 (7062): 1173-8. October 2005. PMID 16189514. doi:10.1038/nature04209.

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