PHACTR1

PHACTR1
Identifiants
Aliases	PHACTR1
IDs externes	OMIM: 608723 MGI: 2659021 HomoloGene: 33597 GeneCards: PHACTR1
Position du gène (Homme)
Chr.	Chromosome 6 humain
Fin	13,290,446 bp
Position du gène (Souris)
Chr.	Chromosome 13 (souris)
Fin	43,292,002 bp
Expression génétique
	Fortement exprimé dans
	gyrus postcentral; ; noyau accumbens; ; éminence ganglionnaire; ; cortex préfrontal; ; gyrus frontal supérieur; ; right frontal lobe; ; noyau caudé; ; dorsolateral prefrontal cortex; ; Cortex entorhinal; ; putamen;
	Fortement exprimé dans
	noyau accumbens; ; dorsal striatum; ; gyrus frontal supérieur; ; Tubercule olfactif; ; cortex visuel; ; primary visual cortex; ; lateral septal nucleus; ; Rostral migratory stream; ; cortex préfrontal; ; lobe temporal;
	Plus de données d'expression de référence
	n/a
Gene Ontology
Fonction moléculaire	protein phosphatase inhibitor activity; protein phosphatase 1 binding; actin binding; protein phosphatase regulator activity;
Composant cellulaire	cytoplasme; cytosol; jonction cellulaire; synapse; noyau;
Processus biologique	actin cytoskeleton reorganization; actomyosin structure organization; stress fiber assembly; motilité d'une cellule; negative regulation of phosphoprotein phosphatase activity; regulation of phosphoprotein phosphatase activity;
	Sources:Amigo / QuickGO
Orthologues
	221692
	218194
	ENSG00000112137
	ENSMUSG00000054728
	Q9C0D0
	Q2M3X8
NM_001242648; NM_030948; NM_001322308; NM_001322309; NM_001322310;
	NM_001322311; NM_001322312; NM_001322313; NM_001322314; NM_001374581; NM_001374582; NM_001374583; NM_001374584
	NM_001005740; NM_001005748; NM_198419; NM_001302635; NM_001302636
NP_001229577; NP_001309237; NP_001309238; NP_001309239; NP_001309240;
	NP_001309241; NP_001309242; NP_001309243; NP_112210; NP_001361510; NP_001361511; NP_001361512; NP_001361513
	NP_001005740; NP_001005748; NP_001289564; NP_001289565
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

Le PHACTR1 (pour « Phosphatase and actin regulator 1 » est une protéine dont le gène est situé sur le chromosome 6 humain.

Rôle

Son expression est modulée par la neuropiline 1. Il intervient dans l'angiogenèse^[5] et dans la formation de l'athérome^[6].

En médecine

Un variant du gène est associé avec une augmentation du risque de survenue d'une dissection spontanée d'une artère coronaire^[7], d'une artère carotide^[8] ou d'une dysplasie fibromusculaire^[9]. Ce variant régule l'expression de l'endothéline-1^[10].

Notes et références

↑ ^{a b et c} GRCh38: Ensembl release 89: ENSG00000112137 - Ensembl, May 2017
↑ ^{a b et c} GRCm38: Ensembl release 89: ENSMUSG00000054728 - 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
↑ Allain B, Jarray R, Borriello L et al. Neuropilin-1 regulates a new VEGF-induced gene, Phactr-1, which controls tubulogenesis and modulates lamellipodial dynamics in human endothelial cells, Cell Signal, 2012;24:214-223
↑ Reschen ME, Lin D, Chalisey A, Soilleux EJ, O'Callaghan CA, Genetic and environmental risk factors for atherosclerosis regulate transcription of phosphatase and actin regulating gene PHACTR1, Atherosclerosis, 2016;250:95-105
↑ Adlam D, Olson TM, Combaret N et al. Association of the PHACTR1/EDN1 genetic locus with spontaneous coronary artery dissection, J Am Coll Cardiol, 2019;73:58-66
↑ Debette S, Kamatani Y, Metso TM et al. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection, Nat Genet, 2015;47:78-83
↑ Kiando SR, Tucker NR, Castro-Vega LJ et al. PHACTR1 is a genetic susceptibility locus for fibromuscular dysplasia supporting its complex genetic pattern of inheritance, PLoS Genet, 2016;12:e1006367
↑ Gupta RM, Hadaya J, Trehan A et al. A genetic variant associated with five vascular diseases is a distal regulator of endothelin-1 gene expression, Cell, 2017;170:522-533

[refGRCh38Ensembl-1] {a b et c} GRCh38: Ensembl release 89: ENSG00000112137 - Ensembl, May 2017

[refGRCm38Ensembl-2] {a b et c} GRCm38: Ensembl release 89: ENSMUSG00000054728 - 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

[Allain_2012-5] Allain B, Jarray R, Borriello L et al. Neuropilin-1 regulates a new VEGF-induced gene, Phactr-1, which controls tubulogenesis and modulates lamellipodial dynamics in human endothelial cells, Cell Signal, 2012;24:214-223

[Reschen_2016-6] Reschen ME, Lin D, Chalisey A, Soilleux EJ, O'Callaghan CA, Genetic and environmental risk factors for atherosclerosis regulate transcription of phosphatase and actin regulating gene PHACTR1, Atherosclerosis, 2016;250:95-105

[Adlam_2019-7] Adlam D, Olson TM, Combaret N et al. Association of the PHACTR1/EDN1 genetic locus with spontaneous coronary artery dissection, J Am Coll Cardiol, 2019;73:58-66

[Debette_2015-8] Debette S, Kamatani Y, Metso TM et al. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection, Nat Genet, 2015;47:78-83

[Kiando_2016-9] Kiando SR, Tucker NR, Castro-Vega LJ et al. PHACTR1 is a genetic susceptibility locus for fibromuscular dysplasia supporting its complex genetic pattern of inheritance, PLoS Genet, 2016;12:e1006367

[Gupta_2017-10] Gupta RM, Hadaya J, Trehan A et al. A genetic variant associated with five vascular diseases is a distal regulator of endothelin-1 gene expression, Cell, 2017;170:522-533

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