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]
Locus	15q22.33	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]
Locus	9\|9 C	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

↑ ^{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

v · m

Voie de signalisation TGF beta

Superfamille TGF beta

Ligand du ACVR ou TGFBR	Famille TGF beta TGF-β1 TGF-β2 TGF-β3 Activine et inhibine INHA INHBA INHBB INHBC NODAL
Ligand de BMPR	Protéines morphogénétique osseuse BMP2 BMP3 BMP4 BMP5 BMP6 BMP7 BMP8a BMP8b BMP10 BMP15 Facteur de différenciation de la croissance GDF1 GDF2 GDF3 GDF5 GDF6 GDF7 Myostatine/GDF8 GDF9 GDF10 GDF11 GDF15 Hormone de régression müllérienne

TGFBR
(ACVR, BMPR, Famille)

TGFBR1:	Récepteurs d'activine de type 1 ACVR1 ACVR1B ACVR1C ACVRL1 BMPR1 BMPR1A BMPR1B
TGFBR2:	Récepteurs d'activine de type 2 ACVR2A ACVR2B AMHR2 BMPR2
TGFBR3:	betaglycan