SOX17

SOX17
	Visualisation de la protéine Cristallisée SOX17
Structures disponibles
PDB	Recherche d'orthologue: PDBe RCSB
Identifiants PDB
	2YUL, 4A3N
Identifiants
Aliases	SOX17
IDs externes	OMIM: 610928 MGI: 107543 HomoloGene: 7948 GeneCards: SOX17
Position du gène (Homme)
Chr.	Chromosome 8 humain
Fin	54,460,892 bp
Position du gène (Souris)
Chr.	Chromosome 1 (souris)
Fin	4,567,577 bp
Expression génétique
	Fortement exprimé dans
	cellule endothéliale; ; péricarde; ; muqueuse utérine; ; right uterine tube; ; veine cave; ; left uterine tube; ; nerf tibial; ; subcutaneous adipose tissue; ; endocol; ; muqueuse gastrique;
	Fortement exprimé dans
	left lung lobe; ; artère carotide externe; ; ligne primitive; ; artère carotide interne; ; poumon droit; ; lobe pulmonaire droit; ; utérus; ; corpuscule carotidien; ; substantia nigra; ; muscle digastrique;
	Plus de données d'expression de référence
	n/a
Gene Ontology
Fonction moléculaire	sequence-specific DNA binding; liaison ADN; beta-catenin binding; DNA-binding transcription factor activity; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription coactivator activity; transcription factor binding; liaison protéique; protein heterodimerization activity; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Composant cellulaire	transcription regulator complex; nucléoplasme; noyau;
Processus biologique	renal system development; endoderm development; regulation of embryonic development; regulation of transcription, DNA-templated; positive regulation of protein catabolic process; stem cell fate specification; positive regulation of skeletal muscle tissue development; embryonic foregut morphogenesis; embryonic organ development; endodermal digestive tract morphogenesis; negative regulation of mesodermal cell fate specification; inner cell mass cellular morphogenesis; negative regulation of Wnt signaling pathway; protein stabilization; endocardium formation; outflow tract morphogenesis; signal transduction involved in regulation of gene expression; endodermal cell fate determination; mRNA transcription by RNA polymerase II; regulation of mesodermal cell fate specification; negative regulation of transcription by RNA polymerase II; Voie de signalisation Wnt; endocardial cell differentiation; regulation of cardiac cell fate specification; transcription, DNA-templated; différenciation d'une cellule souche; embryonic heart tube development; vasculogenèse; régulation positive de la transcription dépendante de l'ADN; heart looping; cardiac cell fate determination; common bile duct development; negative regulation of Wnt signaling pathway involved in heart development; rostrocaudal neural tube patterning; positive regulation of gene expression; cardiogenic plate morphogenesis; heart formation; embryonic heart tube morphogenesis; negative regulation of cell growth; protein destabilization; angiogenèse; spermatogenèse; positive regulation of cell differentiation; regulation of stem cell division; gastrulation; gall bladder development; canonical Wnt signaling pathway; régulation de la différenciation cellulaire; cell migration involved in gastrulation; endoderm formation; regulation of stem cell proliferation; negative regulation of canonical Wnt signaling pathway; positive regulation of transcription by RNA polymerase II; cellular response to leukemia inhibitory factor; différenciation cellulaire;
	Sources:Amigo / QuickGO
Orthologues
	64321
	20671
	ENSG00000164736
	ENSMUSG00000025902
	Q9H6I2
	Q61473
	NM_022454
	NM_001289464; NM_001289465; NM_001289466; NM_001289467; NM_011441
	NP_071899
	NP_001276393; NP_001276394; NP_001276395; NP_001276396; NP_035571
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

Le SOX17 fait partie de la famille de protéines SOX. Il s'agit d'un facteur de transcription dont le gène est SOX17 situé sur le chromosome 8 humain.

Rôles modifier

Il permet la transformation de l'endothélium hémogénique en cellules souches hématopoïétiques^[5]. Il intervient également dans l'embryogenèse des vaisseaux sanguins^[6], par l'intermédiaire de la formation de cellules progénitrices de type CD34^[7]. Son expression est inhibé par la voie de signalisation Notch^[8].

En médecine modifier

Une mutation du gène est associée avec certaines malformations du système urinaire^[9].

Notes et références modifier

↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000164736 - Ensembl, May 2017
↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000025902 - 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
↑ Clarke RL, Yzaguirre AD, Yashiro-Ohtani Y et al. The expression of Sox17 identifies and regulates haemogenic endothelium, Nat Cell Biol, 2013;15:502–510
↑ Corada M, Orsenigo F, Morini MF et al. Sox17 is indispensable for acquisition and maintenance of arterial identity, Nat Commun, 2013;4:2609
↑ Zhang L, Jambusaria A, Hong Z et al. SOX17 regulates conversion of human fibroblasts into endothelial cells and erythroblasts by dedifferentiation into CD34+ progenitor cells, Circulation, 2017;135:2505-2523
↑ Lee SH, Lee S, Yang H et al. Notch pathway targets proangiogenic regulator Sox17 to restrict angiogenesis, Circ Res, 2014;115:215–226
↑ Gimelli S, Caridi G, Beri S et al. Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract, Hum Mutat, 2010;31:1352-9

[refGRCh38Ensembl-1] {a b et c} GRCh38: Ensembl release 89: ENSG00000164736 - Ensembl, May 2017

[refGRCm38Ensembl-2] {a b et c} GRCm38: Ensembl release 89: ENSMUSG00000025902 - 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

[Clarke_2013-5] Clarke RL, Yzaguirre AD, Yashiro-Ohtani Y et al. The expression of Sox17 identifies and regulates haemogenic endothelium, Nat Cell Biol, 2013;15:502–510

[Corada_2013-6] Corada M, Orsenigo F, Morini MF et al. Sox17 is indispensable for acquisition and maintenance of arterial identity, Nat Commun, 2013;4:2609

[Zhang_2017-7] Zhang L, Jambusaria A, Hong Z et al. SOX17 regulates conversion of human fibroblasts into endothelial cells and erythroblasts by dedifferentiation into CD34+ progenitor cells, Circulation, 2017;135:2505-2523

[Lee_2014-8] Lee SH, Lee S, Yang H et al. Notch pathway targets proangiogenic regulator Sox17 to restrict angiogenesis, Circ Res, 2014;115:215–226

[Gimelli_2010-9] Gimelli S, Caridi G, Beri S et al. Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract, Hum Mutat, 2010;31:1352-9

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