TGFBR1

TGFBR1
Structure de la protéine TGFBR1. Basé sur l'identifiant PDB 1b6c.
Structures disponibles PDB Recherche d'orthologue: PDBe RCSB Identifiants PDB 1B6C, 1IAS, 1PY5, 1RW8, 1VJY, 2L5S, 2PJY, 2WOT, 2WOU, 2X7O, 3FAA, 3GXL, 3HMM, 3KCF, 3KFD, 3TZM, 4X0M, 4X2J, 4X2K, 4X2N, 4X2G, 4X2F, 5E8W, 5E8X, 5E8U, 5E8T, 5E8S, 5E90, 5E8Z
Identifiants
Aliases	TGFBR1
IDs externes	OMIM: 190181 MGI: 98728 HomoloGene: 3177 GeneCards: TGFBR1
Position du gène (Homme) Chr. Chromosome 9 humain[1] Locus 9q22.33 Début 99,104,038 bp[1] Fin 99,154,192 bp[1]
Position du gène (Souris) Chr. Chromosome 4 (souris)[2] Locus 4 B1|4 26.02 cM Début 47,353,222 bp[2] Fin 47,414,931 bp[2]
Expression génétique Bgee Humain Souris (orthologue) Fortement exprimé dans Veine saphène tibia pleura viscéral tendon calcanéen jointure synoviale canal galactophore ventricular zone mucosa of paranasal sinus éminence ganglionnaire artère temporale superficielle Fortement exprimé dans medullary collecting duct ganglion cervical supérieur cumulus cell medial ganglionic eminence mandibular prominence efferent ductule paroi abdominale tunica media of zone of aorta maxillary prominence molaire Plus de données d'expression de référence BioGPS n/a
Gene Ontology Fonction moléculaire type II transforming growth factor beta receptor binding I-SMAD binding transforming growth factor beta-activated receptor activity activité kinase signaling receptor binding liaison ATP protein kinase activity liaison ion métal protein serine/threonine kinase activity transforming growth factor beta receptor activity, type I activité de transférase growth factor binding transmembrane receptor protein serine/threonine kinase activity liaison protéique SMAD binding liaison nucléotide transforming growth factor beta binding activin binding Composant cellulaire endosome membrane bicellular tight junction surface cellulaire radeau lipidique integral component of membrane receptor complex membrane plasmique jonction cellulaire intracellulaire intracellular membrane-bounded organelle integral component of plasma membrane activin receptor complex noyau Processus biologique skeletal system development response to cholesterol regulation of protein ubiquitination développement postembryonnaire phosphorylation des protéines negative regulation of chondrocyte differentiation mesenchymal cell differentiation angiogenèse transforming growth factor beta receptor signaling pathway positive regulation of filopodium assembly organisation d'une structure extracellulaire pharyngeal system development apoptose cellular response to transforming growth factor beta stimulus pathway-restricted SMAD protein phosphorylation positive regulation of protein kinase B signaling regulation of transcription, DNA-templated kidney development collagen fibril organization thymus development motilité d'une cellule negative regulation of extrinsic apoptotic signaling pathway positive regulation of apoptotic signaling pathway in utero embryonic development negative regulation of transforming growth factor beta receptor signaling pathway régulation positive de la transcription dépendante de l'ADN développement du cœur positive regulation of cell growth parathyroid gland development artery morphogenesis blastocyst development activin receptor signaling pathway roof of mouth development différenciation cellulaire male gonad development phosphorylation skeletal system morphogenesis cicatrisation negative regulation of apoptotic process Transition épithélio-mésenchymateuse régulation de l'expression des gènes embryonic cranial skeleton morphogenesis peptidyl-threonine phosphorylation intracellular signal transduction positive regulation of endothelial cell proliferation positive regulation of cell migration regulation of epithelial to mesenchymal transition positive regulation of pathway-restricted SMAD protein phosphorylation endothelial cell activation negative regulation of endothelial cell proliferation transmembrane receptor protein serine/threonine kinase signaling pathway lens development in camera-type eye peptidyl-serine phosphorylation positive regulation of cell population proliferation régulation de la croissance neuron fate commitment regulation of protein binding endothelial cell migration germ cell migration positive regulation of SMAD protein signal transduction cardiac epithelial to mesenchymal transition transduction de signal anterior/posterior pattern specification proepicardium development ventricular trabecula myocardium morphogenesis ventricular compact myocardium morphogenesis positive regulation of epithelial to mesenchymal transition protein deubiquitination positive regulation of stress fiber assembly regulation of cardiac muscle cell proliferation ventricular septum morphogenesis angiogenesis involved in coronary vascular morphogenesis coronary artery morphogenesis positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of tight junction disassembly epicardium morphogenesis positive regulation of apoptotic process positive regulation of gene expression pattern specification process Sources:Amigo / QuickGO
Orthologues Espèces Homme Souris Entrez 7046 21812 Ensembl ENSG00000106799 ENSMUSG00000007613 UniProt P36897 Q64729 RefSeq (mRNA) NM_001130916 NM_001306210 NM_004612 NM_009370 NM_001312868 NM_001312869 RefSeq (protéine) NP_001124388 NP_001293139 NP_004603 NP_001299797 NP_001299798 NP_033396 Localisation (UCSC) Chr 9: 99.1 – 99.15 Mb Chr 4: 47.35 – 47.41 Mb Publication PubMed [3] [4]
Wikidata
Voir/Editer Humain Voir/Editer Souris

Le TGFBR1 (pour « Transforming growth factor, beta receptor I ») est l'une des deux protéines (avec le TGFBR2) constituant le récepteur au TGF-β. Son gène est le TGFBR1 situé sur le chromosome 9 humain.

Rôle

Il intervient dans la voie de signalisation des Smad.

En médecine

Une mutation de son gène entraîne un syndrome de Loeys-Dietz^[5], associant anévrisme aortique et anomalies du visage. D'autres mutations sont responsables d'une maladie de Ferguson-Smith, avec des kératoacanthomes multiples^[6].

Notes et références

1. GRCh38: Ensembl release 89: ENSG00000106799 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000007613 - 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. Loeys BL, Chen J, Neptune ER et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2, Nat Genet, 2005;37:275–281
6. Goudie DR, D’Alessandro M, Merriman B et al. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1, Nat Genet, 2011;43:365–369

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