SKI (protéine)

SKI
	Structure de la protéine SKI. Basé sur l'identifiant PDB 1MR1.
Structures disponibles
PDB	Recherche d'orthologue: PDBe RCSB
Identifiants PDB
	1MR1, 1SBX
Identifiants
Aliases	SKI
IDs externes	OMIM: 164780 MGI: 98310 HomoloGene: 31124 GeneCards: SKI
Position du gène (Homme)
Chr.	Chromosome 1 humain
Fin	2,310,213 bp
Position du gène (Souris)
Chr.	Chromosome 4 (souris)
Fin	155,307,049 bp
Expression génétique
	Fortement exprimé dans
	mamelon; ; right hemisphere of cerebellum; ; urètre; ; Caduque basale; ; Descending thoracic aorta; ; artère poplitée; ; Tibial arteries; ; nerf sural; ; aorte ascendante; ; lobe inférieur du poumon;
	Fortement exprimé dans
	aorte ascendante; ; valve aortique; ; primary oocyte; ; secondary oocyte; ; zygote; ; cheville; ; Rostral migratory stream; ; canal déférent; ; efferent ductule; ; molaire;
	Plus de données d'expression de référence
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	transcription corepressor activity; protein domain specific binding; histone deacetylase inhibitor activity; zinc ion binding; liaison protéique; SMAD binding; protein kinase binding; ubiquitin protein ligase binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Composant cellulaire	PML body; centrosome; corps nucléaire; noyau; nucléoplasme; transcription regulator complex; cytoplasme; transcription repressor complex; complexe macromoléculaire;
Processus biologique	roof of mouth development; myotube differentiation; SMAD protein signal transduction; somatic stem cell population maintenance; nose morphogenesis; motilité d'une cellule; bone morphogenesis; negative regulation of transcription by RNA polymerase II; negative regulation of transforming growth factor beta receptor signaling pathway; BMP signaling pathway; negative regulation of osteoblast differentiation; myelination in peripheral nervous system; protein homotrimerization; negative regulation of BMP signaling pathway; positive regulation of Wnt signaling pathway; negative regulation of activin receptor signaling pathway; neural tube closure; lens morphogenesis in camera-type eye; embryonic limb morphogenesis; skeletal muscle fiber development; retina development in camera-type eye; camera-type eye development; positive regulation of DNA binding; olfactory bulb development; prolifération cellulaire; anterior/posterior axis specification; negative regulation of fibroblast proliferation; face morphogenesis; camera-type eye morphogenesis; negative regulation of Schwann cell proliferation; negative regulation of cell population proliferation; positive regulation of transcription by RNA polymerase II; transcription, DNA-templated; negative regulation of histone deacetylation; développement d'un neurone; transforming growth factor beta receptor signaling pathway; negative regulation of cell differentiation;
	Sources:Amigo / QuickGO
Orthologues
	6497
	20481
	ENSG00000157933
	ENSMUSG00000029050
	P12755
	Q60698
	NM_003036
	NM_011385; NM_001357191
	NP_003027
	n/a
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

La protéine SKI est un proto-oncogène dont le gène est SKI situé sur le chromosome 1 humain.

Rôle

Il s'agit d'un répresseur du TGF-β^[5], par l'intermédiaire d'une liaison avec SMAD2 et SMAD3^[6].

En médecine

Une mutation du gène est responsable d'un syndrome de Shprintzen-Goldberg^[7].

Notes et références

↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000157933 - Ensembl, May 2017
↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000029050 - Ensembl, May 2017
↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ Carmignac V, Thevenon J, Adès L et al. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome, Am J Hum Genet, 2012;91:950–957
↑ Xu W, Angelis K, Danielpour D, Haddad MM, Bischof O, Campisi J, Stavnezer E, Medrano EE, Ski acts as a co-repressor with Smad2 and Smad3 to regulate the response to type beta transforming growth factor, Proc Natl Acad Sci U S A, 2000;97:5924–5929
↑ Doyle AJ, Doyle JJ, Bessling SL et al. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm, Nat Genet, 2012;44:1249–1254

[refGRCh38Ensembl-1] {a b et c} GRCh38: Ensembl release 89: ENSG00000157933 - Ensembl, May 2017

[refGRCm38Ensembl-2] {a b et c} GRCm38: Ensembl release 89: ENSMUSG00000029050 - Ensembl, May 2017

[3] « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[4] « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[Carmignac_2012-5] Carmignac V, Thevenon J, Adès L et al. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome, Am J Hum Genet, 2012;91:950–957

[Xu_2000-6] Xu W, Angelis K, Danielpour D, Haddad MM, Bischof O, Campisi J, Stavnezer E, Medrano EE, Ski acts as a co-repressor with Smad2 and Smad3 to regulate the response to type beta transforming growth factor, Proc Natl Acad Sci U S A, 2000;97:5924–5929

[Doyle_2012-7] Doyle AJ, Doyle JJ, Bessling SL et al. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm, Nat Genet, 2012;44:1249–1254

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