SMAD3

SMAD3
Structures disponibles
PDB	Recherche d'orthologue: PDBe RCSB
Identifiants PDB
	2LB2, 1MHD, 1MJS, 1MK2, 1OZJ, 1U7F, 2LAJ, 5OD6, 5ODG
Identifiants
Aliases	SMAD3
IDs externes	OMIM: 603109 MGI: 1201674 HomoloGene: 55937 GeneCards: SMAD3
Position du gène (Homme)
Chr.	Chromosome 15 humain
Fin	67,195,173 bp
Position du gène (Souris)
Chr.	Chromosome 9 (souris)
Fin	63,665,276 bp
Expression génétique
	Fortement exprimé dans
	tendon of biceps brachii; ; cartilage tissue; ; muscle de la cuisse; ; mucosa of esophagus; ; epithelium of colon; ; muscle gastrocnémien; ; jointure synoviale; ; Skeletal muscle tissue of biceps brachii; ; mucosa of urinary bladder; ; olfactory zone of nasal mucosa;
	Fortement exprimé dans
	tubercule génital; ; muscle temporal; ; muscle triceps brachial; ; molaire; ; cheville; ; muscle sterno-cléido-mastoïdien; ; tail of embryo; ; artère carotide interne; ; artère carotide externe; ; fosse;
	Plus de données d'expression de référence
	; ; ; ;
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	liaison de phosphatase; DNA-binding transcription factor activity; R-SMAD binding; co-SMAD binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; transcription factor binding; liaison ion métal; RNA polymerase II cis-regulatory region sequence-specific DNA binding; liaison enzymatique; transforming growth factor beta receptor binding; protein homodimerization activity; collagen binding; zinc ion binding; liaison de chromatine; cis-regulatory region sequence-specific DNA binding; liaison protéique; double-stranded DNA binding; protein kinase binding; sequence-specific DNA binding; liaison ADN; bHLH transcription factor binding; ubiquitin binding; identical protein binding; protein heterodimerization activity; chromatin DNA binding; ubiquitin protein ligase binding; beta-catenin binding; RNA polymerase II general transcription initiation factor activity; DEAD/H-box RNA helicase binding; mineralocorticoid receptor binding; glucocorticoid receptor binding; primary miRNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; SMAD binding; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription coregulator activity;
Composant cellulaire	cytoplasme; noyau; heteromeric SMAD protein complex; SMAD protein complex; transcription regulator complex; receptor complex; membrane plasmique; intracellulaire; nucléoplasme; nuclear inner membrane; cytosol; complexe macromoléculaire;
Processus biologique	Somitogenèse; skeletal system development; ureteric bud development; endoderm development; regulation of transforming growth factor beta2 production; embryonic pattern specification; regulation of transcription by RNA polymerase II; negative regulation of osteoblast differentiation; heart looping; positive regulation of chondrocyte differentiation; positive regulation of alkaline phosphatase activity; positive regulation of interleukin-1 beta production; pericardium development; regulation of binding; negative regulation of wound healing; activation of cysteine-type endopeptidase activity involved in apoptotic process; transforming growth factor beta receptor signaling pathway; negative regulation of inflammatory response; positive regulation of positive chemotaxis; negative regulation of cell population proliferation; negative regulation of fat cell differentiation; cell-cell junction organization; regulation of transcription, DNA-templated; extrinsic apoptotic signaling pathway; activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway; signal transduction involved in regulation of gene expression; in utero embryonic development; negative regulation of transforming growth factor beta receptor signaling pathway; nodal signaling pathway; régulation positive de la transcription dépendante de l'ADN; negative regulation of cell growth; regulation of immune response; positive regulation of transforming growth factor beta3 production; T cell activation; activin receptor signaling pathway; regulation of striated muscle tissue development; embryonic foregut morphogenesis; positive regulation of bone mineralization; cicatrisation; negative regulation of apoptotic process; positive regulation of extracellular matrix assembly; negative regulation of transcription by RNA polymerase II; positive regulation of epithelial to mesenchymal transition; mitigation of host defenses by virus; thyroid gland development; developmental growth; lens fiber cell differentiation; gastrulation; réponse immunitaire; osteoblast differentiation; primary miRNA processing; negative regulation of osteoblast proliferation; osteoblast development; embryonic cranial skeleton morphogenesis; transdifférenciation; paraxial mesoderm morphogenesis; response to hypoxia; positive regulation of cell migration; mesoderm formation; regulation of transforming growth factor beta receptor signaling pathway; positive regulation of gene expression; immune system development; positive regulation of focal adhesion assembly; liver development; regulation of epithelial cell proliferation; positive regulation of stress fiber assembly; positive regulation of transcription by RNA polymerase II; negative regulation of mitotic cell cycle; negative regulation of cytosolic calcium ion concentration; canonical Wnt signaling pathway; protein stabilization; transcription, DNA-templated; negative regulation of protein catabolic process; protein deubiquitination; positive regulation of nitric oxide biosynthetic process; negative regulation of lung blood pressure; positive regulation of pri-miRNA transcription by RNA polymerase II; negative regulation of cardiac muscle hypertrophy in response to stress; cellular response to transforming growth factor beta stimulus; cellular response to cytokine stimulus; positive regulation of protein import into nucleus; positive regulation of DNA-binding transcription factor activity; SMAD protein signal transduction; positive regulation of canonical Wnt signaling pathway; SMAD protein complex assembly; adrenal gland development;
	Sources:Amigo / QuickGO
Orthologues
	4088
	17127
	ENSG00000166949
	ENSMUSG00000032402
	P84022
	Q8BUN5
	NM_001145102; NM_001145103; NM_001145104; NM_005902
	NM_016769
	NP_001138574; NP_001138575; NP_001138576; NP_005893
	NP_058049
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

Le SMAD3 (pour « Mothers against decapentaplegic homolog 3 ») est une protéine dont le gène est le SMAD3 situé sur le chromosome 15 humain.

Rôle

Il intervient dans la voie de signalisation des Smad.

En médecine

Une mutation de son gène entraîne un syndrome associant anévrisme aortique thoracique et polyarthrite^[5], pouvant être proche d'un syndrome de Loeys-Dietz^[6].

Notes et références

↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000166949 - Ensembl, May 2017
↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000032402 - 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
↑ (en) van de Laar IM, Oldenburg RA, Pals G et al. « Mutations in smad3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis » Nat Genet, 2011;43:121–126
↑ (en) Pyeritz R, Jondeau G, Moran R, De Backer J, Arbustini E, De Paepe A, Milewicz D, « Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling » Genet Med, 2014;16:641–642

[refGRCh38Ensembl-1] {a b et c} GRCh38: Ensembl release 89: ENSG00000166949 - Ensembl, May 2017

[refGRCm38Ensembl-2] {a b et c} GRCm38: Ensembl release 89: ENSMUSG00000032402 - 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

[van_de_Laar_2011-5] (en) van de Laar IM, Oldenburg RA, Pals G et al. « Mutations in smad3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis » Nat Genet, 2011;43:121–126

[Pyeritz_2014-6] (en) Pyeritz R, Jondeau G, Moran R, De Backer J, Arbustini E, De Paepe A, Milewicz D, « Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling » Genet Med, 2014;16:641–642

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SMAD3

Rôle

En médecine

Notes et références

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