RAF1

RAF1
Structures disponibles
PDB	Recherche d'orthologue: PDBe RCSB
Identifiants PDB
	1C1Y, 1FAQ, 1FAR, 1GUA, 1RFA, 3CU8, 3IQJ, 3IQU, 3IQV, 3KUC, 3KUD, 3NKX, 3O8I, 3OMV, 4FJ3, 4G0N, 4G3X, 4IEA, 4IHL
Identifiants
Aliases	RAF1
IDs externes	OMIM: 164760 MGI: 97847 HomoloGene: 48145 GeneCards: RAF1
Position du gène (Souris)
Chr.	Chromosome 6 (souris)[1]
Fin	115,653,596 bp[1]
Expression génétique
	n/a
	Fortement exprimé dans
	epithelium of stomach; ; medullary collecting duct; ; secondary oocyte; ; éminence ganglionnaire; ; Muscle temporal; ; muscle triceps brachial; ; muscle sterno-cléido-mastoïdien; ; muscle vaste latéral; ; medial ganglionic eminence; ; mucous cell of stomach;
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	activité de transférase; protein kinase activity; liaison nucléotide; liaison ion métal; protein serine/threonine kinase activity; small GTPase binding; liaison protéique; identical protein binding; liaison ATP; activité kinase; MAP kinase kinase kinase activity; liaison enzymatique; mitogen-activated protein kinase kinase binding; liaison d'adénylate cyclase; adenylate cyclase activator activity; protein heterodimerization activity;
Composant cellulaire	cytoplasme; cytosol; appareil de Golgi; pseudopode; membrane; membrane plasmique; membrane mitochondrial externe; mitochondrie; noyau; nuclear speck; intracellulaire;
Processus biologique	response to muscle stretch; regulation of apoptotic process; différenciation cellulaire; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of protein phosphorylation; intracellular signal transduction; response to hypoxia; somatic stem cell population maintenance; phosphorylation; thymus development; cellular glucose homeostasis; negative regulation of protein-containing complex assembly; cicatrisation; stimulatory C-type lectin receptor signaling pathway; negative regulation of apoptotic process; MAPK cascade; positive regulation of peptidyl-serine phosphorylation; regulation of cell motility; platelet activation; phosphorylation des protéines; développement du cœur; thyroid gland development; ion transmembrane transport; face development; death-inducing signaling complex assembly; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; intermediate filament cytoskeleton organization; régulation de la différenciation cellulaire; prolifération cellulaire; regulation of Rho protein signal transduction; transduction de signal; negative regulation of cell population proliferation; positive regulation of transcription by RNA polymerase II; insulin secretion involved in cellular response to glucose stimulus; apoptose; neurotrophin TRK receptor signaling pathway; développent d'un organisme multicellulaire; negative regulation of signal transduction; positive regulation of ERK1 and ERK2 cascade; activation of adenylate cyclase activity;
	Sources:Amigo / QuickGO
Orthologues
	5894
	110157
	ENSG00000132155
	ENSMUSG00000000441
	P04049
	Q99N57
	NM_002880
	NM_029780; NM_001356333; NM_001356334
NP_002871; NP_001341618; NP_001341619; NP_001341620; NP_001341621;
	NP_001341622; NP_001341624; NP_001341623
	NP_084056; NP_001343262; NP_001343263
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

Le RAF1 est sérine/thréonine kinase. Son gène, RAF1, est situé sur le chromosome 3 humain. Il appartient à la famille de protéines RAF.

Rôles

Il se fixe et inhibe la kinase MST2[4].

En médecine

Plusieurs mutations du gène ont été décrites, en rapport avec un syndrome de Noonan[5] particulier par la survenue d'une cardiomyopathie hypertrophique parfois grave[6].

Notes et références

GRCm38: Ensembl release 89: ENSMUSG00000000441 - 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
Romano D, Matallanas D, Weitsman G, Preisinger C, Ng T, Kolch W, Proapoptotic kinase MST2 coordinates signaling crosstalk between RASSF1A, Raf-1, and Akt, Cancer Res, 2010;70:1195–1203
Razzaque MA, Nishizawa T, Komoike Y et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome, Nat Genet, 2007;39:1013–1017
Thompson D, Patrick-Esteve J, Surcouf JW et al. RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature, Clin Dysmorphol, 2017;26:195–199

Portail de la biologie cellulaire et moléculaire
Portail de la médecine

Cet article est issu de Wikipedia. Le texte est sous licence Creative Commons – Attribution – Partage à l’identique. Des conditions supplémentaires peuvent s’appliquer aux fichiers multimédias.

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000000441 - Ensembl, May 2017

[2] « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[3] « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[Romano_2010-4] Romano D, Matallanas D, Weitsman G, Preisinger C, Ng T, Kolch W, Proapoptotic kinase MST2 coordinates signaling crosstalk between RASSF1A, Raf-1, and Akt, Cancer Res, 2010;70:1195–1203

[Razzaque_2007-5] Razzaque MA, Nishizawa T, Komoike Y et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome, Nat Genet, 2007;39:1013–1017

[Thompson_2017-6] Thompson D, Patrick-Esteve J, Surcouf JW et al. RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature, Clin Dysmorphol, 2017;26:195–199