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[1] Locus 15q22.33 Début 67,063,763 bp[1] Fin 67,195,173 bp[1]
Position du gène (Souris) Chr. Chromosome 9 (souris)[2] Locus 9|9 C Début 63,554,049 bp[2] Fin 63,665,276 bp[2]
Expression génétique Bgee Humain Souris (orthologue) 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 BioGPS 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 Espèces Homme Souris Entrez 4088 17127 Ensembl ENSG00000166949 ENSMUSG00000032402 UniProt P84022 Q8BUN5 RefSeq (mRNA) NM_001145102 NM_001145103 NM_001145104 NM_005902 NM_016769 RefSeq (protéine) NP_001138574 NP_001138575 NP_001138576 NP_005893 NP_058049 Localisation (UCSC) Chr 15: 67.06 – 67.2 Mb Chr 9: 63.55 – 63.67 Mb Publication PubMed [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000166949 - Ensembl, May 2017
2. 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
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
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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