Janus-kinase 1

JAK1
	Structure de la protéine JAK1. Basée sur l'identifiant PDB 3EYG.
Structures disponibles
PDB	Recherche d'orthologue : PDBe RCSB
Identifiants PDB
	3EYG, 3EYH, 4E4L, 4E4N, 4E5W, 4EHZ, 4EI4, 4FK6, 4I5C, 4IVB, 4IVC, 4IVD, 4K6Z, 4K77, 4L00, 4L01, 5E1E, 5HX8, 5IXD, 5IXI
Identifiants
Alias	JAK1, Janus kinase 1
IDs externes	OMIM: 147795 MGI: 96628 HomoloGene: 1678 GeneCards: JAK1
Position du gène (humain)
Chr.	Chromosome 1 humain
Fin	65,067,754 bp
Position du gène (souris)
Chr.	Chromosome 4 (souris)
Fin	101,265,282 bp
Expression génique
	Fortement exprimé dans
	cellule bêta; ; skin of hip; ; tendon calcanéen; ; epithelium of nasopharynx; ; ganglion lymphatique; ; cartilage tissue; ; artère temporale superficielle; ; skin of thigh; ; parietal pleura; ; muscle glutéal;
	Fortement exprimé dans
	tibiofemoral joint; ; gastrula; ; ganglion lymphatique; ; muscle triceps brachial; ; granulocyte; ; ganglion mésentérique; ; cheville; ; muscle sterno-cléido-mastoïdien; ; sang; ; muscle temporal;
	Plus de données d'expression de référence
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	activité de transférase; liaison nucléotide; protein kinase activity; CCR5 chemokine receptor binding; growth hormone receptor binding; liaison ion métal; activité kinase; liaison protéique; protein tyrosine kinase activity; protein phosphatase binding; signaling receptor binding; liaison ATP; ubiquitin protein ligase binding; non-membrane spanning protein tyrosine kinase activity;
Composant cellulaire	cytoplasme; cytosol; membrane; focal adhesion; extrinsic component of cytoplasmic side of plasma membrane; cytosquelette; système endomembranaire; noyau; endosome;
Processus biologique	différenciation cellulaire; intracellular signal transduction; phosphorylation; transmembrane receptor protein tyrosine kinase signaling pathway; interferon-gamma-mediated signaling pathway; response to antibiotic; MAPK cascade; positive regulation of sprouting angiogenesis; phosphorylation des protéines; regulation of type I interferon-mediated signaling pathway; regulation of interferon-gamma-mediated signaling pathway; regulation of cell population proliferation; type I interferon signaling pathway; interleukin-2-mediated signaling pathway; peptidyl-tyrosine autophosphorylation; protein autophosphorylation; migration cellulaire; système immunitaire inné; interleukin-12-mediated signaling pathway; interleukin-7-mediated signaling pathway; interleukin-15-mediated signaling pathway; interleukin-9-mediated signaling pathway; regulation of molecular function; peptidyl-tyrosine phosphorylation; cytokine-mediated signaling pathway; interleukin-21-mediated signaling pathway; interleukin-6-mediated signaling pathway; interleukin-27-mediated signaling pathway; interleukin-35-mediated signaling pathway;
	Sources:Amigo / QuickGO
Orthologues
	3716
	16451
	ENSG00000162434
	ENSMUSG00000028530
	P23458
	P52332
NM_002227; NM_001320923; NM_001321852; NM_001321853; NM_001321854;
	NM_001321855; NM_001321856; NM_001321857
	NM_146145; NM_013567
NP_001307852; NP_001308781; NP_001308782; NP_001308783; NP_001308784;
	NP_001308785; NP_001308786; NP_002218
	n/a
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

La Janus-kinase 1 est une tyrosine-kinase, membre de la famille des Janus-kinases. Son gène est le JAK1 situ sur le chromosome 1 humain.

Rôles

Il participe à la voie de transduction de signal JAK-STAT^[5].

En médecine

Une mutation du gène est retrouvée dans un cas sur cinq de leucémie aiguë lymphoblastique^[6].

Le filgotinib est une molécule inhibitrice spécifique de la Janus kinase 1 et en cours de test comme médicament : il a des résultats prometteurs dans la maladie de Crohn^[7]. L'upadacitinib est en cours de test dans la polyarthrite rhumatoïde^[8]. L'abrocitinib semble être efficace dans la dermatite atopique^[9].

Notes et références

GRCh38: Ensembl release 89: ENSG00000162434 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000028530 - 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
↑ Stark GR, Darnell JE Jr, The JAK-STAT pathway at twenty, Immunity, 2012;36:503–514
↑ Flex E, Petrangeli V, Stella L et al. Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia, J Exp Med, 2008;205:751–758.
↑ Vermeire, S, Schreiber, S, Petryka, R et al. Clinical remission in patients with moderate-to-severe Crohn's disease treated with filgotinib (the FITZROY study): results from a phase 2, double-blind, randomised, placebo-controlled trial, Lancet, 2017;389:266–275
↑ Burmester G, Kremer J, Van den Bosch F et al. Safety and efficacy of upadacitinib in patients with rheumatoid arthritis and inadequate response to conventional synthetic disease-modifying anti-rheumatic drugs (SELECT-NEXT): a randomised, double-blind, placebo-controlled phase 3 trial, Lancet, 2018;391:2503–2512
↑ Simpson EL, Sinclair R, Forman S et al. Efficacy and safety of abrocitinib in adults and adolescents with moderate-to-severe atopic dermatitis (JADE MONO-1): a multicentre, double-blind, randomised, placebo-controlled, phase 3 trial, Lancet, 2020;396:255-266

Portail de la biologie cellulaire et moléculaire
Portail de la médecine

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162434 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028530 - 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

[Stark_2012-5] Stark GR, Darnell JE Jr, The JAK-STAT pathway at twenty, Immunity, 2012;36:503–514

[Flex_2008-6] Flex E, Petrangeli V, Stella L et al. Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia, J Exp Med, 2008;205:751–758.

[Vermeire_2017-7] Vermeire, S, Schreiber, S, Petryka, R et al. Clinical remission in patients with moderate-to-severe Crohn's disease treated with filgotinib (the FITZROY study): results from a phase 2, double-blind, randomised, placebo-controlled trial, Lancet, 2017;389:266–275

[Burmester_2018-8] Burmester G, Kremer J, Van den Bosch F et al. Safety and efficacy of upadacitinib in patients with rheumatoid arthritis and inadequate response to conventional synthetic disease-modifying anti-rheumatic drugs (SELECT-NEXT): a randomised, double-blind, placebo-controlled phase 3 trial, Lancet, 2018;391:2503–2512

[Simpson_2020-9] Simpson EL, Sinclair R, Forman S et al. Efficacy and safety of abrocitinib in adults and adolescents with moderate-to-severe atopic dermatitis (JADE MONO-1): a multicentre, double-blind, randomised, placebo-controlled, phase 3 trial, Lancet, 2020;396:255-266

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