ZEB1

ZEB1
	Structure de la protéine ZEB1. Basé sur l'identifiant PDB 2e19.
Structures disponibles
PDB	Recherche d'orthologue : PDBe RCSB
Identifiants PDB
	2E19
Identifiants
Alias	ZEB1
IDs externes	OMIM: 189909 MGI: 1344313 HomoloGene: 31779 GeneCards: ZEB1
Position du gène (humain)
Chr.	Chromosome 10 humain
Fin	31,529,814 bp
Position du gène (souris)
Chr.	Chromosome 18 (souris)
Fin	5,775,467 bp
Expression génique
	Fortement exprimé dans
	tendon calcanéen; ; epithelium of colon; ; Caduque basale; ; nerf optique; ; muscle glutéal; ; cellule endothéliale; ; Skeletal muscle tissue of rectus abdominis; ; muscle biceps brachial; ; tendon of biceps brachii; ; Skeletal muscle tissue of biceps brachii;
	Fortement exprimé dans
	artère carotide interne; ; substantia nigra; ; motoneurone; ; artère carotide externe; ; valve sigmoïde; ; corpuscule carotidien; ; aorte ascendante; ; Rostral migratory stream; ; noyau suprachiasmatique; ; crête génitale;
	Plus de données d'expression de référence
	; ; ; ;
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	liaison ADN; transcription corepressor activity; transcription coactivator activity; zinc ion binding; transcription factor binding; liaison de chromatine; liaison ion métal; liaison protéique; Fixation d'acide nucléique; DNA-binding transcription repressor activity, RNA polymerase II-specific; DNA-binding transcription factor activity; E-box binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Composant cellulaire	transcription regulator complex; noyau; nucléoplasme; cytosol;
Processus biologique	pattern specification process; embryonic skeletal system morphogenesis; regulation of smooth muscle cell differentiation; développement d'un organe animal; différenciation cellulaire; semicircular canal morphogenesis; regulation of transcription, DNA-templated; regulation of transcription by RNA polymerase II; transcription, DNA-templated; neurodéveloppement; regulation of transforming growth factor beta receptor signaling pathway; regulation of T cell differentiation in thymus; central nervous system development; cartilage development; regulation of mesenchymal cell proliferation; embryonic camera-type eye morphogenesis; cochlea morphogenesis; réponse immunitaire; embryonic morphogenesis; cellular response to amino acid stimulus; prolifération cellulaire; negative regulation of epithelial cell differentiation; positive regulation of transcription by RNA polymerase II; negative regulation of cell population proliferation; negative regulation of transcription, DNA-templated; positive regulation of neuron differentiation; negative regulation of transcription by RNA polymerase II; negative regulation of endothelial cell differentiation; cytokine-mediated signaling pathway;
	Sources:Amigo / QuickGO
Orthologues
	6935
	21417
	ENSG00000148516
	ENSMUSG00000024238
	P37275
	Q64318
NM_001128128; NM_001174093; NM_001174094; NM_001174095; NM_001174096;
	NM_030751; NM_001323638; NM_001323641; NM_001323642; NM_001323643; NM_001323644; NM_001323645; NM_001323646; NM_001323647; NM_001323648; NM_001323649; NM_001323650; NM_001323651; NM_001323652; NM_001323653; NM_001323654; NM_001323655; NM_001323656; NM_001323657; NM_001323658; NM_001323659; NM_001323660; NM_001323661; NM_001323662; NM_001323663; NM_001323664; NM_001323665; NM_001323666; NM_001323671; NM_001323672; NM_001323673; NM_001323674; NM_001323675; NM_001323676; NM_001323677; NM_001323678
	NM_011546; NM_001360981; NM_001360982
NP_001121600; NP_001167564; NP_001167565; NP_001167566; NP_001167567;
	NP_001310567; NP_001310570; NP_001310571; NP_001310572; NP_001310573; NP_001310574; NP_001310575; NP_001310576; NP_001310577; NP_001310578; NP_001310579; NP_001310580; NP_001310581; NP_001310582; NP_001310583; NP_001310584; NP_001310585; NP_001310586; NP_001310587; NP_001310588; NP_001310589; NP_001310590; NP_001310591; NP_001310592; NP_001310593; NP_001310594; NP_001310595; NP_001310600; NP_001310601; NP_001310602; NP_001310603; NP_001310604; NP_001310605; NP_001310606; NP_001310607; NP_110378
	NP_035676; NP_001347910; NP_001347911
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

ZEB1 (pour « Zinc finger E-box-binding homeobox 1 »), ou TCF8, est une protéine de type facteur de transcription contenant un homéodomaine. Son gène est ZEB1 porté par le chromosome 10 humain.

Rôles

Il favorise la cancérogenèse et la progression des cancers. Il intervient dans la différenciation des cellules musculaires lisses.

Il augmente l'expression du GUCY1A3 sous-unité de la guanylate cyclase et donc l'activité de cette dernière.

En médecine

Les mutations du gène causent plusieurs maladies : la dystrophie cornéenne postérieure polymorphe ou la dystrophie cornéenne de Fuchs dans sa forme tardive.

Notes et références

1 2 3 GRCh38: Ensembl release 89: ENSG00000148516 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024238 - 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
↑ Sánchez-Tilló E, Siles L, de Barrios O, Cuatrecasas M, Vaquero EC, Castells A, Postigo A, Expanding roles of ZEB factors in tumorigenesis and tumor progression, Am J Cancer Res, 2011;1:897–912
↑ Nishimura G, Manabe I, Tsushima K et al. DeltaEF1 mediates TGF-beta signaling in vascular smooth muscle cell differentiation, Dev Cell, 2006;11:93–104
↑ Kessler T, Wobst J, Wolf B et al. Functional characterization of the GUCY1A3 coronary artery disease risk locus, Circulation, 2017;136:476-489
↑ Krafchak CM, Pawar H, Moroi SE et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells, Am J Hum Genet, 2005;77:694–708
↑ Riazuddin SA, Zaghloul NA, Al-Saif A et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p, Am J Hum Genet, 2010;86:45–53

Portail de la biologie cellulaire et moléculaire

Portail de la médecine

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000148516 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024238 - 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

[Sánchez-Tilló_2011-5] Sánchez-Tilló E, Siles L, de Barrios O, Cuatrecasas M, Vaquero EC, Castells A, Postigo A, Expanding roles of ZEB factors in tumorigenesis and tumor progression, Am J Cancer Res, 2011;1:897–912

[Nishimura_2006-6] Nishimura G, Manabe I, Tsushima K et al. DeltaEF1 mediates TGF-beta signaling in vascular smooth muscle cell differentiation, Dev Cell, 2006;11:93–104

[Kessler_2017-7] Kessler T, Wobst J, Wolf B et al. Functional characterization of the GUCY1A3 coronary artery disease risk locus, Circulation, 2017;136:476-489

[Krafchak_2005-8] Krafchak CM, Pawar H, Moroi SE et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells, Am J Hum Genet, 2005;77:694–708

[Riazuddin_2010-9] Riazuddin SA, Zaghloul NA, Al-Saif A et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p, Am J Hum Genet, 2010;86:45–53